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92 results
  1. Potocki-Lupski syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome
    ... LUPSKI SYNDROME; PTLS Scientific Articles on PubMed PubMed References Goh ES, Perez IC, Canales CP, Ruiz P, Agatep R, Yoon G, Chitayat D, Dror Y, Shago M, Goobie S, Sgro M, ...
  2. Branchiooculofacial Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK55063
    ... lead to the phenotypic variability characteristic of BOFS References Published Guidelines / Consensus Statements Milunsky JM, Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch ...
  3. Opitz G/BBB syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome
    ... GBBB SYNDROME; GBBB Scientific Articles on PubMed PubMed References De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodriguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco ...
  4. MID1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mid1
    ... MID1 Gene and Variant Databases NCBI Gene ClinVar References De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodriguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco ...
  5. EZH2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ezh2
    ... EZH2 Gene and Variant Databases NCBI Gene ClinVar References Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA; FORGE Canada Consortium; Chitayat D, Boycott KM, Weaver DD, Jones SJ. Mutations ...
  6. Warsaw Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK541972
    ... See Quick Reference for an explanation of nomenclature. ... RM Jr, Alkuraya FS, Chitayat D. Warsaw breakage syndrome: further clinical and genetic ...
  7. Coats plus syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/coats-plus-syndrome
    ... CYSTS 1; CRMCC1 Scientific Articles on PubMed PubMed ... L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss ...
  8. CTC1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ctc1
    ... CTC1 Gene and Variant Databases NCBI Gene ... A, Bonafe L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss ...
  9. PYCR1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/pycr1
    ... PYCR1 Gene and Variant Databases NCBI Gene ... M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem ...
  10. FMR1 Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1384
    ... alleles range from 55 to 200 CGG repeats. References Published Guidelines / ... 25227148 ] Chitayat D, Wyatt PR, et al. Fragile X testing ...
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