المؤلفون: Kalantari, Silvia, Carlston, Colleen, Alsaleh, Norah, Abdel‐Salam, Ghada M. H., Alkuraya, Fowzan, Kato, Mitsuhiro, Matsumoto, Naomichi, Miyatake, Satoko, Yamamoto, Tatsuya, Fares‐Taie, Lucas, Rozet, Jean‐Michel, Chassaing, Nicolas, Vincent‐Delorme, Catherine, Kang‐Bellin, Anjeung, McWalter, Kirsty, Bupp, Caleb, Palen, Emily, Wagner, Monisa D., Niceta, Marcello, Cesario, Claudia

المصدر: American Journal of Medical Genetics. Part A; Dec2021, Vol. 185 Issue 12, p3728-3739, 12p

المؤلفون: Hampshire, Karly, Martin, Pierre‐Marie, Carlston, Colleen, Slavotinek, Anne

المصدر: American Journal of Medical Genetics. Part A; Aug2020, Vol. 182 Issue 8, p1923-1932, 10p

المؤلفون: Carlston, Colleen M., Bleyl, Steven B., Andrews, Ashley, Meyers, Lindsay, Brown, Sara, Bayrak‐Toydemir, Pinar, Bale, James F., Botto, Lorenzo D.

المصدر: American Journal of Medical Genetics. Part A; May2019, Vol. 179 Issue 5, p792-796, 5p

المؤلفون: DeMille, Desiree, Carlston, Colleen M., Tam, Oliver H., Palumbos, Janice C., Stalker, Heather J., Mao, Rong, Zori, Roberto T., Viskochil, David H., Park, Albert H., Carey, John C.

المصدر: American Journal of Medical Genetics. Part A; Apr2018, Vol. 176 Issue 4, p945-950, 6p

المؤلفون: Shen, Wei, Heeley, Jennifer M., Carlston, Colleen M., Acuna‐Hidalgo, Rocio, Nillesen, Willy M., Dent, Karin M., Douglas, Ganka V., Levine, Kara L., Bayrak‐Toydemir, Pinar, Marcelis, Carlo L., Shinawi, Marwan, Carey, John C.

المصدر: American Journal of Medical Genetics. Part A; Nov2017, Vol. 173 Issue 11, p3022-3028, 7p

المؤلفون: Carlston, Colleen M., Afify, Zeinab A., Palumbos, Janice C., Bagley, Heidi, Barbagelata, Carlos, Wooderchak‐Donahue, Whitney L., Mao, Rong, Carey, John C.

المصدر: American Journal of Medical Genetics. Part A; Oct2017, Vol. 173 Issue 10, p2622-2627, 6p

المؤلفون: DeMille D; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah., Carlston CM; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.; Department of Pathology, University of Utah, Salt Lake City, Utah., Tam OH; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah., Palumbos JC; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah., Stalker HJ; Division of Pediatric Genetics and Metabolism, University of Florida, Gainesville, Florida., Mao R; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.; Department of Pathology, University of Utah, Salt Lake City, Utah., Zori RT; Division of Pediatric Genetics and Metabolism, University of Florida, Gainesville, Florida., Viskochil DH; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah., Park AH; Division of Otolaryngology - Head and Neck Surgery, University of Utah, Salt Lake City, Utah., Carey JC; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Apr; Vol. 176 (4), pp. 945-950.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Genes, Dominant* , Genetic Association Studies* , Genetic Variation*, Connexin 26/*genetics , Deafness/*genetics, Child ; Child, Preschool ; Computational Biology/methods ; Connexin 26/chemistry ; Deafness/diagnosis ; Female ; Humans ; Inheritance Patterns ; Male ; Models, Molecular ; Phenotype ; Protein Conformation ; Tandem Repeat Sequences

SCR Disease Name: Nonsyndromic Deafness