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American Journal of Medical Genetics. Part A|September 29, 2021
Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two familiesHagit Daum, Mythily Ganapathi, Yoel Hirsch, et al.
American Journal of Medical Genetics. Part A|February 2, 2022
Patient-reported prevalence of gastrointestinal issues in the adult skeletal dysplasia population with a concentration on osteogenesis imperfectaHolly M LoTurco, Erin M Carter, Deborah E McInerney, et al.
American Journal of Medical Genetics. Part A|July 15, 2022
Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 geneMargarita Sharova, Darya Guseva, Alexey Kurenkov, et al.
American Journal of Medical Genetics. Part A|May 2, 2022
MYH7 variants cause complex congenital heart diseaseAlyssa Ritter, Jacqueline Leonard, Christopher Gray, et al.
American Journal of Medical Genetics. Part A|October 15, 2021
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndromeEriko Nishi, Toshiki Takenouchi, Fuyuki Miya, et al.
American Journal of Medical Genetics. Part A|March 3, 2022
Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS)Ezgi Gökpınar İli, Elifcan Taşdelen, Ceren Damla Durmaz, et al.
American Journal of Medical Genetics. Part A|March 4, 2022
Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literatureErika Solansh Apuril Velgara, Milena Mariani, Annalaura Torella, et al.
American Journal of Medical Genetics. Part A|September 21, 2021
Paternal retraction of a fragile X allele to normal size, showing normal function over two generationsEssra Bartlett, Alison D Archibald, David Francis, et al.
American Journal of Medical Genetics. Part A|September 21, 2021
Nicotinamide nucleotide transhydrogenase mutation analysis in Chinese patients with thyroid dysgenesisMiaomiao Li, Weibing Tian, Fengqi Wang, et al.
American Journal of Medical Genetics. Part A|March 29, 2022
A novel GNAS variant presents with disorders of GNAS inactivation and cardiomyopathyEmily Shelkowitz, Christine M Chan, Tonya Jones, et al.
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