Showing results (521-530 of 9,276) with videos related to

Sort By:
Pageof 928
American Journal of Medical Genetics. Part A|August 18, 2021
Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal statureHugh J McMillan, Jorge Davila, Matt Osmond, et al.
American Journal of Medical Genetics. Part A|August 23, 2021
Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutationsMirko Uljarević, Thomas W Frazier, Gaëlle Rached, et al.
American Journal of Medical Genetics. Part A|May 26, 2020
The burden of chronic disease, multimorbidity, and polypharmacy in adults with Down syndromeAngelo Carfì, Allegra Romano, Giulia Zaccaria, et al.
American Journal of Medical Genetics. Part A|May 26, 2020
Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypesShelley Gibson, Mahshid S Azamian, Seema R Lalani, et al.
American Journal of Medical Genetics. Part A|May 26, 2020
Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndromeJenny Patterson, Caroline Coats, Ruth McGowan
American Journal of Medical Genetics. Part A|May 29, 2020
Ectopia lentis in Loeys-Dietz syndrome type 4Alan C Braverman, Kevin J Blinder, Sangeeta Khanna, et al.
American Journal of Medical Genetics. Part A|August 6, 2021
Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 childrenGeorgia Pitsava, Marcia L Feldkamp, Nathan Pankratz, et al.
American Journal of Medical Genetics. Part A|May 18, 2021
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorderCaroline Dias, Rolph Pfundt, Tjitske Kleefstra, et al.
American Journal of Medical Genetics. Part A|August 2, 2022
Case report of mild TCIRG1-associated autosomal recessive osteopetrosis in VietnamLong Hoang Luong, Hieu Dinh Nguyen, Tuyen Nguyen Trung, et al.
American Journal of Medical Genetics. Part A|August 4, 2022
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndromeJessica A Cooley Coleman, Timothy Fee, Renee Bend, et al.
Pageof 928