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American Journal of Medical Genetics. Part A|October 10, 2020
Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin-twin transfusion syndromeAnna M Armitage, Monica A Kundra, Neda Ghiam, et al.American Journal of Medical Genetics. Part A|October 12, 2020
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literatureSheri A Poskanzer, Matthew J Schultz, Coleman T Turgeon, et al.American Journal of Medical Genetics. Part A|October 8, 2020
The goniomaxillar length/goniomandibular length ratio in normal newborn infants: A clinical tool for defining chin position abnormalitiesGalit Mimouni, Paul Merlob, Francis B Mimouni, et al.American Journal of Medical Genetics. Part A|July 30, 2021
Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register-based cohort studyLine Kenborg, Elisabeth W Andersen, Anne Katrine Duun-Henriksen, et al.American Journal of Medical Genetics. Part A|July 31, 2021
Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A)Alessandro Iannaccone, Carmen C Brewer, Peiyao Cheng, et al.American Journal of Medical Genetics. Part A|July 30, 2021
Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathwaysHéctor Hugo Manzanilla-Romero, Denisa Weis, Simon Schnaiter, et al.American Journal of Medical Genetics. Part A|July 27, 2021
The recurrent p.(Pro540Ser) MEN1 genetic variant should be considered nonpathogenic: A case reportCarles Villabona, Josep Oriola, Teresa Serrano, et al.American Journal of Medical Genetics. Part A|June 15, 2021
Never quit on hills: John M. Graham, Jr. MD, ScD, as mentorDeepika D BurkardtAmerican Journal of Medical Genetics. Part A|July 29, 2021
5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndromeAllan Bayat, Michael Bayat, Chantal Broers, et al.American Journal of Medical Genetics. Part A|June 14, 2022
PIEZO2-related distal arthrogryposis type 5: Longitudinal follow-up of a three-generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient groupCharlotte A Sherlaw-Sturrock, Tracey Willis, Nigel Kiely, et al.Pageof 928