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American Journal of Medical Genetics. Part A|October 11, 2023
Vissers-Bodmer syndrome caused by a novel de novo CNOT1 frameshift variantTingting Wu, Xi Chen, Xingxing ZhangAmerican Journal of Medical Genetics. Part A|October 25, 2023
Indian patients with CHST3-related chondrodysplasia with congenital joint dislocationsSwati Singh, Prince Jacob, Siddaramappa J Patil, et al.American Journal of Medical Genetics. Part A|October 24, 2023
Clinical relevance of genetic variants in the von Willebrand factor according to in-silico methodsAdriana Inés Woods, Débora Marina Primrose, Juvenal Paiva, et al.American Journal of Medical Genetics. Part A|October 6, 2023
Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndromeMahmoud Y Issa, Mona A Hafez, Samir M Mounir, et al.American Journal of Medical Genetics. Part A|October 10, 2023
Growth reference charts for children with hypochondroplasiaMoira S Cheung, Tim J Cole, Paul Arundel, et al.American Journal of Medical Genetics. Part A|October 9, 2023
Adapting a quality of life scale for children and young people with Down syndrome in ChileMacarena Jofré Urrutia, Paula Bedregal, Macarena LizamaAmerican Journal of Medical Genetics. Part A|September 29, 2023
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathiesCarolyn R Serbinski, April Vanderwal, Sarah E Chadwell, et al.American Journal of Medical Genetics. Part A|September 25, 2023
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalitiesScott K Ward, Alexandrea Wadley, Chun-Hui Anne Tsai, et al.American Journal of Medical Genetics. Part A|July 19, 2023
Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular eventLouiza Toutouna, Stefanie Beck-Woedl, Ursula Feige, et al.American Journal of Medical Genetics. Part A|July 17, 2023
A case of LSS-associated congenital nuclear cataract with hypotrichosis and literature reviewDongwei Guo, Qingjiong ZhangPageof 928