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Beiraghi S, Leon‐Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL. Craniofacial and intraoral phenotype of Robinow syndrome forms. Robinow syndrome (RS) is a rare genetic condition with two inheritance forms, autosomal dominant RS (DRS) and autosomal recessive RS (RRS). The...
Carrier testing for severe childhood recessive diseases by next‐generation sequencing Bell et al. (2011) Science Translational Medicine 3:65ra4
Lin Z, Hegarty JP, Cappel JA, Yu W, Chen X, Faber P, Wang Y, Kelly AA, Poritz LS, Peterson BZ, Schreiber S, Fan J‐B, Koltun WA. Identification of disease‐associated DNA methylation in intestinal tissues from patients with inflammatory bowel disease. Overwhelming evidence supports the theory...
Genetic deficiency of tartrate‐resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity Lausch et al. (2011) Nature Genetics 43(2):132–137
Ginsburg OM, Dinh NV, To TV, Quang LH, Linh ND, Duong BTH, Royer R, Llacuachaqui M, Tulman A, Vichodez G, Li S, Love RR, Narod SA. Family history, BRCA mutations and breast cancer in Vietnamese women. The purpose of this report is to estimate the proportions of familial and hereditary breast...
Kibar Z, Salem S, Bosoi CM, Pauwels E, De Marco P, Merello E, Bassuk AG, Capra V, Gros P. Contribution of VANGL2 mutations to isolated neural tube defects. Vangl2 was identified as the gene defective in the Looptail (Lp) mouse model for neural tube defects (NTDs). This gene forms part of the...
Al‐Owain M, Wakil S, Shareef F, Al‐Fatani A, Hamadah E, Haider M, Al‐Hindi H, Awaji A, Khalifa O, Baz B, Ramadhan R, Meyer B. Novel homozygous mutation in DSP causing skin fragility–woolly hair syndrome: report of a large family and review of the desmoplakin‐related phenotypes....
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