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American Journal of Medical Genetics. Part A|August 17, 2018
Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndromeRoger E Stevenson, Victoria Vincent, Catherine J Spellicy, et al.American Journal of Medical Genetics. Part A|January 26, 2022
Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathwaysElin Tønne, Bernt Johan Due-Tønnessen, Magnus Dehli Vigeland, et al.American Journal of Medical Genetics. Part A|January 18, 2006
A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutationPaulien Terhal, Bernd Rösler, Jürgen KohlhaseAmerican Journal of Medical Genetics. Part A|January 18, 2006
Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cystsMarie Luise Bisgaard, Steffen BülowAmerican Journal of Medical Genetics. Part A|March 9, 2006
Dural ectasia in children with Marfan syndrome: a prospective, multicenter, patient-control studyWalter Knirsch, Claudia Kurtz, Nicole Häffner, et al.American Journal of Medical Genetics. Part A|March 9, 2006
Research on stored biological samples: views of African American and White American cancer patientsRebecca D Pentz, Laurent Billot, David WendlerAmerican Journal of Medical Genetics. Part A|March 9, 2006
Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes?Alasdair G W HunterAmerican Journal of Medical Genetics. Part A|March 15, 2006
Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinicDinah Yaeger, Jennifer McCallum, Kathy Lewis, et al.American Journal of Medical Genetics. Part A|March 15, 2006
Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndromePeter Kannu, Ravi Savarirayan, Linda Ozoemena, et al.American Journal of Medical Genetics. Part A|December 13, 2007
Major gene and multifactorial inheritance of mandibular prognathismRicardo Machado Cruz, Henrique Krieger, Ricardo Ferreira, et al.Pageof 929