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American Journal of Medical Genetics. Part A|September 30, 2022
Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotypeSchaida Schirwani, Emily Woods, David A Koolen, et al.
American Journal of Medical Genetics. Part A|February 12, 2021
Germ cell mosaicism for AUTS2 exon 6 deletionLaura Gieldon, Anna Jauch, Katharina Obeid, et al.
American Journal of Medical Genetics. Part A|March 12, 2021
The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1Mine Koprulu, Aneeta Kumare, Anisa Bibi, et al.
American Journal of Medical Genetics. Part A|March 2, 2021
Sleep and behavior in children and adolescents with tuberous sclerosis complexElena Zambrelli, Katherine Turner, Angela Peron, et al.
American Journal of Medical Genetics. Part A|February 15, 2021
Intraperitoneal bladder rupture in a young child with vascular Ehlers-Danlos syndromeRahul Nanduri, Eric Jones, Wanda Miller-Hance, et al.
American Journal of Medical Genetics. Part A|March 8, 2021
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys)Jirat Chenbhanich, Yan Hu, Steven Hetts, et al.
American Journal of Medical Genetics. Part A|February 5, 2021
Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening programAnna I Jarmolowicz, Emma K Baker, Essra Bartlett, et al.
American Journal of Medical Genetics. Part A|December 31, 2021
Congenital heart defects in molecularly confirmed KBG syndrome patientsMaria Cristina Digilio, Giulio Calcagni, Maria Gnazzo, et al.
American Journal of Medical Genetics. Part A|September 13, 2022
Broadening the genotypic and phenotypic spectrum of MAF in three Chinese Han congenital cataracts familiesQiwei Wang, Tingfeng Qin, Haowen Tan, et al.
American Journal of Medical Genetics. Part A|December 24, 2021
Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individualsJasmine Knoll, Burak Altintas, William A Gahl, et al.
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