Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help
96 results
  1. Autosomal Dominant Robinow Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK268648
    ... Jamie Lohr , MD, Juliana Mazzeu , PhD, and David Chitayat , MD. Author Information Maian Roifman , MD Division of ... Brasília, Brazil Email: rb.qpnc.qp@uezzamanailuj David Chitayat , MD Prenatal Diagnosis and Medical Genetics Program Department ...
  2. Beckwith-Wiedemann Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1394
    ... onset of both features has also been observed [ Chitayat et al 1990 , Brioude et al 2013 , Ibrahim ... 3115–24. [ PMC free article : PMC317182 ] [ PubMed : 10601037 ] Chitayat D, Rothchild A, Ling E, Friedman JM, Couch ...
  3. Chondrodysplasia Punctata 1, X-Linked - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1544
    ... identify a pathogenic variant [ Eash et al 2003 , Chitayat et al 2008 , Nino et al 2008 , Matos- ... Kirkland et al 2006 , Shanske et al 2007 , Chitayat et al 2008 , Nino et al 2008 , Schulz ...
  4. Warsaw Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK541972
    ... Jr , PhD, Fowzan S Alkuraya , MD, and David Chitayat , MD. Author Information Ebba Alkhunaizi , MD The Prenatal ... Saudi Arabia Email: as.ude.crhsfk@ayaruklaf David Chitayat , MD The Prenatal Diagnosis and Medical Genetics Program ...
  5. Robinow syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/robinow-syndrome
    ... Roifman M, Brunner H, Lohr J, Mazzeu J, Chitayat D. Autosomal Dominant Robinow Syndrome. 2015 Jan 8 [ ... B, Seaward G; FORGE Canada Consortium; Brunner HG, Chitayat D. De novo WNT5A-associated autosomal dominant Robinow ...
  6. Branchiooculofacial Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK55063
    ... Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch ... Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch ...
  7. MID1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mid1
    ... O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco ... article on PubMed Central Ferrentino R, Bassi MT, Chitayat D, Tabolacci E, Meroni G. MID1 mutation screening ...
  8. SALL4-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1373
    ... PMC free article : PMC1785342 ] [ PubMed : 17236129 ] Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs ... renal-ocular syndrome, and related disorders. Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs ...
  9. Coats plus syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/coats-plus-syndrome
    ... A, Bonafe L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss ... Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes ...
  10. Schimke Immunoosseous Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1376
    ... 173–6. [ PubMed : 10955476 ] Roifman CM, Zhang J, Chitayat D, Sharfe N. A partial deficiency of interleukin- ... Riazi S, Seidl TL, Katahira J, Smoot LB, Chitayat D, Boyd CD, Hinek A. Connection between elastin ...
first · previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next · last