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Results 1 - 10 of 378 for Roberts syndrome
  1. Roberts syndrome 
    Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth. Mild to ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  2. Lissencephaly with cerebellar hypoplasia 
    ... Lissencephaly 3 Lissencephaly syndrome, Norman-Roberts type Norman-Roberts syndrome Genetic Testing Registry: Lissencephaly type 3 Genetic Testing Registry: Norman-Roberts syndrome Cobblestone lissencephaly National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  3. ESCO2 gene 
    ... ESCO2 gene mutations have been found to cause Roberts syndrome, which is characterized by limb and facial abnormalities ... around the chromosome's constriction point (centromere). In Roberts syndrome, cells respond to abnormal sister chromatid attachment by ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  4. Cleft Lip and Palate (National Library of Medicine)  
    Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during pregnancy. A baby can have ...
    https://medlineplus.gov/cleftlipandpalate.html - Health Topics
  5. Warsaw breakage syndrome 
    ... Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome. Anemia. 2010;2010:565268. ...
    https://medlineplus.gov/genetics/condition/warsaw-breakage-syndrome - Genetics
  6. PRKAG2 gene 
    ... on PubMed Gollob MH, Green MS, Tang AS, Roberts R. PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  7. Short QT syndrome 
    ... 038. Citation on PubMed Gollob MH, Redpath CJ, Roberts JD. The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol. 2011 ...
    https://medlineplus.gov/genetics/condition/short-qt-syndrome - Genetics
  8. Noonan syndrome 
    ... 37657. Epub 2016 Apr 25. Citation on PubMed Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet. 2013 Jan 26;381(9863):333-42. ... Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto ... clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  9. Extremity x-ray 
    ... PA: Elsevier; 2017:chap 45. Laoteppitaks C. Compartment syndrome evaluation. In: Roberts JR, Custalow CB, Thomsen TW, eds. Roberts and ...
    https://medlineplus.gov/ency/article/003461.htm - Medical Encyclopedia
  10. SOS1 gene 
    ... Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
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