Showing results (551-560 of 9,276) with videos related to

Sort By:
Pageof 928
American Journal of Medical Genetics. Part A|May 2, 2015
Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4Brandie Heald, Christina Rigelsky, Rocio Moran, et al.
American Journal of Medical Genetics. Part A|June 11, 2015
Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomaliesMartin Kehrer, Karin Schäferhoff, Michael Bonin, et al.
American Journal of Medical Genetics. Part A|June 11, 2015
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variantMajida Charif, Salah Mohamed Cherif Titah, Agathe Roubertie, et al.
American Journal of Medical Genetics. Part A|June 8, 2020
Characterization of sleep habits and medication outcomes for sleep disturbance in children and adults with Angelman syndromeJoseph A Pereira, Caitlin T Ravichandran, Jennifer Mullett, et al.
American Journal of Medical Genetics. Part A|May 23, 2020
Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndromeCathleen Lawson, Karin J Blakemore, Rebecca Ryan, et al.
American Journal of Medical Genetics. Part A|June 6, 2020
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapyTara L Wenger, Randall A Bly, Natalie Wu, et al.
American Journal of Medical Genetics. Part A|June 12, 2020
Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co-occurrence from ThailandTim Phetthong, Thipwimol Tim-Aroon, Arthaporn Khongkrapan, et al.
American Journal of Medical Genetics. Part A|April 23, 2020
Neural and behavioral measures suggest that cognitive and affective functioning interactions mediate risk for psychosis-proneness symptoms in youth with chromosome 22q11.2 deletion syndromeSamantha R Linton, Abbie M Popa, Steven J Luck, et al.
American Journal of Medical Genetics. Part A|April 23, 2020
4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotypeEline A Verberne, Lotje Dalen Meurs, Nicole I Wolf, et al.
American Journal of Medical Genetics. Part A|April 23, 2020
Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defectAnwar Baban, Nicole Olivini, Nicoletta Cantarutti, et al.
Pageof 928