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Results 1 - 10 of 101 for robert syndrome 18
  1. Roberts syndrome 
    ... 10.1038/emboj.2011.381. Epub 2011 Nov 18. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  2. Warsaw breakage syndrome 
    ... Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome. Anemia. 2010;2010:565268. doi: 10.1155/2010/565268. Epub 2010 Jul 18. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/condition/warsaw-breakage-syndrome - Genetics
  3. ESCO2 gene 
    ... Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no ... Spectrum Disorder. 2006 Apr 18 [updated 2020 Mar 26]. In: Adam MP, Feldman ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  4. PRKAG2 gene 
    ... Gollob TN, Tapscott T, Gonzales O, Bachinski L, Roberts R. Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy. Circulation. 2001 Dec 18;104(25):3030-3. doi: 10.1161/hc5001. ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  5. SMARCA4 gene 
    ... of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219. Citation on PubMed Wilson BG, Roberts CW. SWI/SNF nucleosome remodellers and cancer. Nat ...
    https://medlineplus.gov/genetics/gene/smarca4 - Genetics
  6. CAV3 gene 
    ... of CAV3 PubMed CAVEOLIN 3; ... D, Eagle M, Bushby K, Straub V. Caveolinopathy--new mutations and additional symptoms. Neuromuscul Disord. 2008 Jul;18(7):572-8. doi: 10.1016/j.nmd. ...
    https://medlineplus.gov/genetics/gene/cav3 - Genetics
  7. FTL gene 
    ... hyperferritinaemia. Best Pract Res Clin Haematol. 2005 Jun;18(2):251-63. doi: ... syndrome: prevalence, lens morphology, spectrum of mutations, and clinical ...
    https://medlineplus.gov/genetics/gene/ftl - Genetics
  8. Cleft Lip and Palate (National Library of Medicine)  
    ... months, and cleft palate surgery is done before 18 months. Many children have other complications. They may ...
    https://medlineplus.gov/cleftlipandpalate.html - Health Topics
  9. Videos from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Video From the National Institutes of Health (Eunice Kennedy Shriver National Institute of Child Health and Human Development)  
    ... Audiodescripciones NICHD: On the Road to Recovery (09/18/2018) Audio Descriptions The Human Placenta Project (07/ ...
    https://www.nichd.nih.gov/newsroom/digital-media/videos - Videos
  10. TNXB gene 
    ... cases. Clin Dysmorphol. 2012 Jan;21(1):15-18. doi: 10.1097/MCD.0b013e32834c4bb7. Citation on PubMed ... X deficiency. N Engl J Med. 2001 Oct 18;345(16):1167-75. doi: 10.1056/NEJMoa002939. ...
    https://medlineplus.gov/genetics/gene/tnxb - Genetics
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