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         Jacobsen Syndrome:     more detail
  1. Asperger Syndrome and Psychotherapy: Understanding Asperger Perspectives by Paula Jacobsen, 2003-03
  2. Jacobsen syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Dawn, MS, CGC Cardeiro, 2005
  3. Understanding How Asperger Children and Adolescents Think and Learn: Creating Manageable Environments for AS Students by Paula Jacobsen, 2005-06-15

21. Conditions And Diseases - Jacobsen Syndrome Top Links
jacobsen syndrome Web Site Links. Danny s 11q Information Page A mother shares her story about having a son with jacobsen syndrome.
http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Rare_Disorde
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Related Healthcare Subjects Disabilities Environmental Health Fitness Health Insurance ... Men's Health
Jacobsen Syndrome Web Site Links The Fragile WEB Site Information on Jacobsen syndrome, the chromosome deletion syndrome, for the families and carers of JS patients. Reference databaase, family support groups and clinical information.
Danny's 11q Information Page
A mother shares her story about having a son with Jacobsen Syndrome.
Institute of Child Health
An article with an explanation of Jacobsen Syndrome.
NORD - Jacobsen Syndrome
A look at the alternate names, a general discussion and resources.
Other Useful Health Web Links National Institutes of Health (NIH) US Government department in charge of medical research.
AHRQ: Clinical Information
Clinical information on evidence-based practice, clinical guidelines, medical effectiveness, pharmaceutical therapy, new technology, screening and preventive services, outcomes research, and the National Guideline Clearinghouse.
The UK Health Technology Assessment Programme
Site contains details of program's many projects and publications; an NHS national research and development initiative.
U.S. Preventive Services Task Force (USPSTF)

22. JACOBSEN SYNDROME: Contact A Family - For Families With Disabled Children: Infor
printer friendly, jacobsen syndrome, jacobsen syndrome was first described in 1973 by a Danish geneticist, Dr Petrea Jacobsen. It
http://www.cafamily.org.uk/Direct/j10.html
printer friendly JACOBSEN SYNDROME home more about us in your area conditions information ... how you can help search this site Did you find this page
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yes no Jacobsen syndrome was first described in 1973 by a Danish geneticist, Dr Petrea Jacobsen. It is a rare chromosomal condition which affects about one in every 100,000 births. Jacobsen syndrome is associated with a recognisable pattern of features. The children are usually of a pleasant disposition with a characteristic face, somewhat more pear shaped than normal. However, there is also some developmental delay which basically means learning difficulties (see entry, Learning Disability ) varying from mild to more severe; speech and language may also be slow to develop and growth may be slower. However, heart problems such as an enlarged left heart syndrome (see entry, Heart Defects ) can be more debilitating, sometimes requiring surgery. Blood disorders, mainly in the form of easy bruising and prolonged bleeding due to low numbers of platelets (thrombocytopenia - reduction in the number of platelets present in the blood and refered to as Paris-Trousseau syndrome) are common. Gastrointestinal problems including a narrowing of the outlet from the stomach to the small intestine (pyloric stenosis) and frequent respiratory problems also are seen. Individuals with Jacobsen syndrome may show some or all of these features although there is great variability in the number and severity of symptoms.

23. Rare Disorders: Jacobsen Syndrome
Rare Disorders jacobsen syndrome. Includes photos. Institute of Child Health jacobsen syndrome. Clinical synopsis, plus research summaries.
http://www.puredirectory.com/Health/Conditions-and-Diseases/Rare-Disorders/Jacob
Rare Disorders: Jacobsen Syndrome
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Standard Listings
Danny's 11q Information Page
A mother shares her son's story. Includes photos.
Institute of Child Health: Jacobsen Syndrome
Clinical synopsis, plus research summaries.
The Fragile WEB Site
Includes a reference database, family support groups and clinical information.
Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor PureDirectory.com uses a modified version of the Open Directory.

24. Jacobsen Syndrome Right Side
jacobsen syndrome 11q terminal deletion disorder. 1. jacobsen syndrome. The European Chromosome 11q Network officially started 11 June 1997.
http://www.11q.org/jacobsen_syndrome_r.htm
JACOBSEN SYNDROME
11q terminal deletion disorder
This page provides information about Jacobsen Syndrome, a deletion of the long arm of chromosome 11, also called the 11q terminal deletion disorder. Other disorders on the long arm can be found at the page with characteristics
  • Jacobsen Syndrome Behaviour research Other information
  • 1. Jacobsen Syndrome The European Chromosome 11q Network officially started 11 June 1997. Over the years it is shown that about 50 % of the children who became member of the Network are missing the last part of the long arm of chromosome 11 ; this is called 11q terminal deletion disorder or Jacobsen Syndrome. In 1997 the Network found contact to Dr Paul Grossfeld (San Diego, USA) who became the expert on children with a 11q terminal deletion disorder. On this page the 11q Network collects data on the 11q terminal deletion supported by Paul Grossfeld.

    25. Jacobsen Syndrome - Data - 1999 - Nederlands
    Data jacobsen syndrome patients, by Dr. Paul Grossfeld, 1998/1999. Recent data can be found here. Gegevens van 70 JS patiënten, inclusief
    http://www.11q.org/DataJS99_ned.htm
    Data Jacobsen Syndrome patients, by Dr. Paul Grossfeld, 1998/1999. Recent data can be found here Gegevens van 70 JS patiënten, inclusief de kinderen van de conferenties in Europa (Ede/Lunteren, maart 98) en San Diego (augustus 1998) (51 vrouwen/19 mannen) Ocular Coloboma (colomboom van het oog) Ptosis (afhangende oogleden) Carp Mouth ("karpermond", "vissenmond" High Palate (hooggewelfd gehemelte) Heart Defect (hartafwijking) Pyloric Stenosis (in Nederland bekend als Pyforus Hypertroifie, vernauwing van de uitgang van de maag door een verdikte sluitspier) Chronic Constipation (chronische opstipatie) Undescended Testes (niet ingedaalde testikels) Decreased Platelets (te weinig bloedplaatjes) Recurrent Infections (recidiverende, terugkerende infecties) Eczema (eczeem) Fam Hx Heterochromia (het in de familie voorkomen van ogen in twee verschillende kleuren) San Diego, September 3, 1999

    26. Chromosome 11, Partial Monosomy 11q
    Colocalisation of CCG repeats and chromosome deletion breakpoints in jacobsen syndrome evidence for a common mechanism of chromosome breakage.
    http://www.bchealthguide.org/kbase/nord/nord641.htm
    document.write(''); var hwPrint=1; var hwDocHWID="nord641"; var hwDocTitle="Chromosome 11, Partial Monosomy 11q"; var hwRank="1"; var hwSectionHWID="nord641"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD";
    National Organization for Rare Disorders, Inc.
    Chromosome 11, Partial Monosomy 11q
    Important
    It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
    Synonyms
    • Jacobsen Syndrome JBS Deletion 11q Syndrome, Partial Distal 11q- Syndrome Distal 11q Monosomy 11q- Syndrome, Partial Monosomy 11q, Partial Partial Monosomy of Long Arm of Chromosome 11
    Disorder Subdivisions
    • None
    Related Disorders List
    Information on the following diseases can be found in the Related Disorders section of this report:
    • Chromosome 11 Ring C Syndrome Chromosomal Disorders (General)
    General Discussion
    Chromosome 11, Partial Monosomy 11q is a rare chromosomal disorder in which a portion of the long arm (q) of chromosome 11 is missing (deleted or monosomic). The range and severity of symptoms may vary, depending upon the exact size and location of the deletion on 11q. Chromosome 11, Partial Monosomy 11q may be characterized by abnormally slow growth before and after birth (prenatal and postnatal growth retardation), mental retardation, and/or moderate to severe delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation). Characteristic physical abnormalities may include malformations of the head and facial (craniofacial) area, abnormalities of the eyes, malformations of the hands and/or feet, and/or defects of the heart. The exact cause of Chromosome 11, Partial Monosomy 11q is not fully understood.

    27. Triploid Syndrome
    search term in the Rare Disease Database.) Chromosome 11, Monosomy 11q (jacobsen syndrome) is a rare genetic disorder affecting the long arm of chromosome 11.
    http://www.bchealthguide.org/kbase/nord/nord710.htm
    document.write(''); var hwPrint=1; var hwDocHWID="nord710"; var hwDocTitle="Triploid Syndrome"; var hwRank="1"; var hwSectionHWID="nord710"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD";
    National Organization for Rare Disorders, Inc.
    Triploid Syndrome
    Important
    It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
    Synonyms
    • Chromosome Triploidy Syndrome Triploidy Triploidy Syndrome 3n Syndrome Diploid/Triploid Mixoploidy 2n/3n Mixoploidy
    Disorder Subdivisions
    • None
    Related Disorders List
    Information on the following diseases can be found in the Related Disorders section of this report:
    • Trisomy Down Syndrome Chromosome 11, Monosomy 11q 18p Syndrome
    General Discussion
    Triploid Syndrome is an extremely rare chromosomal disorder. Individuals with triploid syndrome have three of every chromosome for a total of sixty-nine rather than the normal forty-six chromosomes. Babies with Triploid Syndrome usually are lost through early miscarriage. However, some infants have been born and survived as long as five months. Affected infants are usually small and have multiple birth defects. Those that survive are usually mosaic, meaning that some cells have the normal number of 46 chromosomes and some cells have a complete extra set of chromosomes.
    Symptoms
    Triploid Syndrome may include larger than normal size placenta, lack of prenatal skeletal growth, widely spaced eyes (ocular hypertelorism), low nasal bridge, low-set malformed ears and a smaller than normal sized jaw. The third and fourth fingers of the hands may be connected and the hands may have unusual simian creases. The infant may have congenital heart defects and genital abnormalities may be present in males. There may be abnormal brain development, lack of development of the adrenal glands and cystic kidneys. Growth of the brain or spinal cord outside of the body (neural tube defects), openings in the abdominal wall, an unusually shaped skull and cleft lip and/or palate have also been observed. There may also be liver and gallbladder deformities, twisted colon and finger and toe deformities. Individuals who are mosaic will survive longer than those with complete triploidy but usually have mental retardation.

    28. Jacobsen Syndrome
    Home Health Conditions and Diseases Rare Disorders jacobsen syndrome (4) Institute of Child Health An article with an explanation of jacobsen syndrome.
    http://www.thenewhealthfind.com/Health/ConditionsandDiseases/RareDisorders/Jacob
    Directory Home Health Conditions and Diseases Rare Disorders : Jacobsen Syndrome (4)
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    29. Hydrocephalus
    Hereditary Spastic Paraplegia (6) Homocystinuria@ (4) Huntington s@ (28) Hydrocephalus@ (54) Incontinentia Pigmenti (7) jacobsen syndrome@ (4) Joubert ..
    http://www.thenewhealthfind.com/health/hydrocephalus
    hydrocephalus
    Hydrocephalus rank:
          Directory   Home: Health: Conditions and Diseases: Neurological Disorders: Hydrocephalus (54) Associations (5) Personal Pages (18) Support Groups (3) Treatments (12) See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Neurological Disorders: Brain Diseases Health: Conditions and Diseases: Neurological Disorders: Congenital Anomalies Health: Conditions and Diseases: Neurological Disorders: Congenital Anomalies: Dandy Walker Syndrome Health: Conditions and Diseases: Neurological Disorders: Trauma and Injuries: Brain Injury Health: Conditions and Diseases: Rare Disorders Hydrocephalus Center - Patient centered guide to hydrocephalus information, resources, and reading material. H-Tx Rat - Hydrocephalus
    Personal Pages rank:
          Directory   Home: Health: Conditions and Diseases: Neurological Disorders: Hydrocephalus : Personal Pages (18) Mafalda's Homepage - Experiences with hydrocephalic daughter, information, photos and updates on progress. (English/Portuguese) The Riccio Boys - Photos and family updates on the Riccio brothers. Family updates and hydrocephalus treatment information. Sarah's Story - Accounts a parents' experiences with their daughter through diagnosis and treatments during her first two years. Steve Drake's

    30. Chromosome 11, Partial Monosomy 11q
    disorder subdivision(s) covered by this report. Synonyms jacobsen syndrome; JBS; Deletion 11q Syndrome, Partial; Distal 11q Syndrome;
    http://my.webmd.com/hw/parenting_and_pregnancy/nord641.asp
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    Health Topics Symptoms ... For a Complete Report Chromosome 11, Partial Monosomy 11q Important It is possible that the main title of the report Chromosome 11, Partial Monosomy 11q is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms
    • Jacobsen Syndrome JBS Deletion 11q Syndrome, Partial Distal 11q- Syndrome Distal 11q Monosomy 11q- Syndrome, Partial Monosomy 11q, Partial Partial Monosomy of Long Arm of Chromosome 11
    Disorder Subdivisions
    • None
    General Discussion Chromosome 11, Partial Monosomy 11q is a rare chromosomal disorder in which a portion of the long arm (q) of chromosome 11 is missing (deleted or monosomic). The range and severity of symptoms may vary, depending upon the exact size and location of the deletion on 11q. Chromosome 11, Partial Monosomy 11q may be characterized by abnormally slow growth before and after birth (prenatal and postnatal growth retardation), mental retardation, and/or moderate to severe delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation). Characteristic physical abnormalities may include malformations of the head and facial (craniofacial) area, abnormalities of the eyes, malformations of the hands and/or feet, and/or defects of the heart. The exact cause of Chromosome 11, Partial Monosomy 11q is not fully understood.

    31. :: Ez2Find :: Jacobsen Syndrome
    Guide jacobsen syndrome, Global Metasearch Any Language Guides, jacobsen syndrome. ez2Find Home Directory Health
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    Guide : Jacobsen Syndrome Global Metasearch
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    32. Chromosome 11, Partial Monosomy 11q - Quest Diagnostics Patient Health Library
    s) covered by this report. Synonyms. jacobsen syndrome; JBS; Deletion 11q Syndrome, Partial; Distal 11q Syndrome; Distal 11q Monosomy;
    http://www.questdiagnostics.com/kbase/nord/nord641.htm
    document.write(''); var hwPrint=1; var hwDocHWID="nord641"; var hwDocTitle="Chromosome 11, Partial Monosomy 11q"; var hwRank="1"; var hwSectionHWID="nord641"; var hwSectionTitle=""; var hwSource="us6.0"; var hwProdCfgSerNo="wsh_html_059_c"; var hwDocType="NORD";
    National Organization for Rare Disorders, Inc.
    Chromosome 11, Partial Monosomy 11q
    Important
    It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
    Synonyms
    • Jacobsen Syndrome JBS Deletion 11q Syndrome, Partial Distal 11q- Syndrome Distal 11q Monosomy 11q- Syndrome, Partial Monosomy 11q, Partial Partial Monosomy of Long Arm of Chromosome 11
    Disorder Subdivisions
    • None
    General Discussion
    Chromosome 11, Partial Monosomy 11q is a rare chromosomal disorder in which a portion of the long arm (q) of chromosome 11 is missing (deleted or monosomic). The range and severity of symptoms may vary, depending upon the exact size and location of the deletion on 11q. Chromosome 11, Partial Monosomy 11q may be characterized by abnormally slow growth before and after birth (prenatal and postnatal growth retardation), mental retardation, and/or moderate to severe delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation). Characteristic physical abnormalities may include malformations of the head and facial (craniofacial) area, abnormalities of the eyes, malformations of the hands and/or feet, and/or defects of the heart. The exact cause of Chromosome 11, Partial Monosomy 11q is not fully understood.

    33. Chromosome 11 Partial Monosomy 11q,Jacobsen Syndrome,JBS,Deletion 11q Syndrome P
    Chromosome 11 Partial Monosomy 11q,jacobsen syndrome,JBS,Deletion 11q Syndrome Partial,Distal 11q Syndrome,Distal 11q Monosomy,11q- Syndrome Partial,Monosomy
    http://www.icomm.ca/geneinfo/ch11pm.htm
    Chromosome 11 Partial Monosomy 11q,Jacobsen Syndrome,JBS,Deletion 11q Syndrome Partial,Distal 11q- Syndrome,Distal 11q Monosomy,11q- Syndrome Partial,Monosomy 11q Partial, Partial Monosomy of Long Arm of Chromosome 11
    For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX
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    HOME
    DISORDERS GLOSSARY Chromosome 11, Partial Monosomy 11q
    (as defined by the
    National Organization for Rare Disorders

    also known as:
    Jacobsen Syndrome
    JBS
    Deletion 11q Syndrome, Partial Distal 11q- Syndrome Distal 11q Monosomy 11q- Syndrome, Partial Monosomy 11q, Partial Partial Monosomy of Long Arm of Chromosome 11
    Chromosome 11, Partial Monosomy 11q is a rare chromosomal disorder in which a portion of the long arm (q) of chromosome 11 is missing (deleted or monosomic). The range and severity of symptoms may vary, depending upon the exact size and location of the deletion on 11q. Chromosome 11, Partial Monosomy 11q may be characterized by abnormally slow growth before and after birth (prenatal and postnatal growth retardation), mental retardation, and/or moderate to severe delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation). Characteristic physical abnormalities may include malformations of the head and facial (craniofacial) area, abnormalities of the eyes, malformations of the hands and/or feet, and/or defects of the heart.

    34. Definitions Of Genetic Disorders-J
    west.htm JacksonWeiss Craniosynostosis jacksonweiss.htm Jackson-Weiss Syndrome jacksonweiss.htm Jacksonian Epilepsy epilepsy.htm jacobsen syndrome ch11pm.htm
    http://www.icomm.ca/geneinfo/def-j.htm
    For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX
    to Information on the Internet about Genetic Disorders and Birth Defects

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    HOME
    DISORDERS GLOSSARY
    Definitions of Genetic Disorders beginning with the letter J Click on the link next to the disorder to view its definition. Jackknife Convulsion west.htm
    Jackson-Weiss Craniosynostosis jacksonweiss.htm
    Jackson-Weiss Syndrome jacksonweiss.htm
    Jacksonian Epilepsy epilepsy.htm
    Jacobsen Syndrome ch11pm.htm
    Jadassohn-Lewandowsky Syndrome pachcon.html
    Jaffe-Lichenstein Disease fibdysp.htm Jakob's Disease cjd.htm Jakob-Creutzfeldt Disease cjd.htm Janeway I agamprim.htm Janeway Dysgammaglobulinemia agamprim.htm Jansen Metaphyseal Dysostosis jansen.htm Jansen Type Metaphyseal Chondrodysplasia jansen.htm Jarcho-Levin Syndrome jarcholevin.htm Jaw-Winking marcusgunn.htm JBS jbs.htm JBS ch11pm.htm

    35. Jacobsen Syndrome Reference Database (by Author)

    http://web.ukonline.co.uk/c.jones/11q/frauth.htm

    36. OMIM Entries For Jacobsen Syndrome
    OMIM entries for jacobsen syndrome. Brief description of jacobsen syndrome and research to date, and the clinical synopsis. OMIM
    http://web.ukonline.co.uk/c.jones/frames/omim.htm
    Online Mendelian Inheritance In Man (OMIM) is the online version of the famous catalogue of genetic disease. For your convenience, I have mirrored the OMIM entries for Jacobsen syndrome and Paris Trousseau thrombocytopenia on this WEB site. Links to publications cited in these texts will also allow you to view the abstracts where available.
    OMIM entries for Jacobsen syndrome
    Brief description of Jacobsen syndrome and research to date, and the clinical synopsis.
    OMIM entries for Thrombocytopenia, Paris-Trousseau type
    Brief description of this related condition and its clinical synopsis.
    OMIM search page at NCBI
    Perform your own searches of the OMIM database for information on other genetic conditions.

    37. Jacobsen Syndrome : Meddie Health Search
    ITEMS LINKS Institute of Child Health An article with an explanation of jacobsen syndrome. (Rating 0.00 Votes 0) Rate It. The
    http://www.meddie.com/Conditions_and_Diseases/Rare_Disorders/Jacobsen_Syndrome/
    Search Meddie: the entire directory only this category More search options Home Conditions and Diseases Rare Disorders : Jacobsen Syndrome ITEMS: LINKS:
    • Institute of Child Health
      An article with an explanation of Jacobsen Syndrome.
      (Rating: 0.00 Votes: 0) Rate It
    • The Fragile WEB Site
      Information on Jacobsen syndrome, the chromosome deletion syndrome, for the families and carers of JS patients. Reference databaase, family support groups and clinical information.
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    38. OMIM - JACOBSEN SYNDROME; JBS

    http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147791

    39. PillSupplier.com - Conditions And Diseases/Rare Disorders/Jacobsen Syndrome
    Category jacobsen syndrome. HOME ABOUT US ORDER STATUS BMI CALCULATOR FAQ CONTACT US. Conditions and Diseases/Rare Disorders/jacobsen syndrome. Links
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    40. PillSupplier.com - Detailed View " Institute Of Child Health: Jacobsen Syndrome
    Home Conditions and Diseases Rare Disorders jacobsen syndrome Institute of Child Health jacobsen syndrome. Title Institute
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