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133 results
  1. Schaaf-Yang Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK567492
    ... Search Help < Prev Next > Schaaf-Yang Syndrome Synonym: Chitayat-Hall Syndrome Christian P Schaaf , MD, PhD and ... been described in an individual diagnosed clinically with Chitayat-Hall syndrome [ Jobling et al 2018 ] (see Nomenclature ). ...
  2. MYRF-Related Cardiac Urogenital Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK586169
    ... a pathogenic variant in MYRF [Authors, personal observation; Chitayat et al 2018 ; Pinz et al 2018 ; Qi ... three individuals have been reported with intestinal malrotation [ Chitayat et al 2018 ; Authors, personal observation]. There are ...
  3. 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 and Affiliations Maian Roifman , MD ... Brasília, Brazil Email: rb.qpnc.qp@uezzamanailuj David Chitayat , MD Prenatal Diagnosis and Medical Genetics Program Department ...
  4. Aicardi-Goutières Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1475
    ... Mitochondrial Disorders Overview . 3-hydroxyisobutyric aciduria (OMIM 236795 ). Chitayat et al [1992] described monozygotic male twins, born ... A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss ...
  5. PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK573670
    ... Brain Malformation Syndrome Ebba Alkhunaizi , MD and David Chitayat , MD. Author Information and Affiliations Ebba Alkhunaizi , MD ... Canada Email: ac.lligcm.liam@izianuhkla.abbe David Chitayat , MD The Prenatal Diagnosis and Medical Genetics Program ...
  6. Dyskeratosis Congenita and Related Telomere Biology Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK22301
    ... A, Bonafé 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 ...
  7. 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 and Affiliations Ebba Alkhunaizi , MD ... Saudi Arabia Email: as.ude.crhsfk@ayaruklaf David Chitayat , MD The Prenatal Diagnosis and Medical Genetics Program ...
  8. Chondrodysplasia Punctata 1, X-Linked - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1544
    ... al 2020 ], mixed connective tissue disease, and scleroderma [ Chitayat et al 2008 , Schulz et al 2010 ] can ... Unger S, Shannon P, Nishimura G, Blaser S, Chitayat D. Maternal SLE and brachytelephalangic chondrodysplasia punctata in ...
  9. Beckwith-Wiedemann Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1394
    ... PMC free article : PMC6284780 ] [ PubMed : 30221575 ] Gardiner K, Chitayat D, Choufani S, Shuman C, Blaser S, Terespolsky ... Atkin J, Pauli R, Smith A, Nishikawa J, Chitayat D, Weksberg R. Imprinting status of 11p15 genes ...
  10. McKusick-Kaufman Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1502
    ... one had genital abnormalities comprising cryptorchidism and hypospadias [ Chitayat et al 1987 ]; however, the incidence of BBS ... 193–7. [ PMC free article : PMC7375842 ] [ PubMed : 32714621 ] Chitayat D, Hahm SY, Marion RW, Sachs GS, Goldman ...
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