Showing results (451-460 of 9,275) with videos related to

Sort By:
Pageof 928
American Journal of Medical Genetics. Part A|December 11, 2021
Clinical and molecular response to dasatinib in an adult patient with Penttinen syndromeHelena Iznardo, Cecilie Bredrup, Sara Bernal, et al.
American Journal of Medical Genetics. Part A|December 11, 2021
Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2Irene Valenzuela, Elena Guillén Benítez, Angel Sanchez-Montanez, et al.
American Journal of Medical Genetics. Part A|December 15, 2021
Prenatal diagnosis of a likely pathogenic variant in ZBTB18: Natural evolution of fetal phenotype including the long bones and corpus callosumRoee Birnbaum, Ofer Markovitch, Tal Biron-Shental, et al.
American Journal of Medical Genetics. Part A|December 15, 2021
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variantMartin Schwarz, Lukáš Ryba, Anna Křepelová, et al.
American Journal of Medical Genetics. Part A|December 15, 2021
An examination of adaptive behavior and functional outcomes in adults with 22q11.2 deletion syndrome: A parental perspectiveAndrea Curtin, Arlene Mannion, Robert J Shprintzen, et al.
American Journal of Medical Genetics. Part A|December 16, 2021
A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish familyMaria Asif, Ionut Dragos Mocanu, Uzma Abdullah, et al.
American Journal of Medical Genetics. Part A|November 9, 2021
A new case of Turnpenny-Fry syndromePelin Ercoskun, Cigdem Yuce Kahraman, Kübra Adanur Saglam, et al.
American Journal of Medical Genetics. Part A|November 11, 2021
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease traitGhada M H Abdel-Salam, Ruizhi Duan, Mohamed S Abdel-Hamid, et al.
American Journal of Medical Genetics. Part A|November 13, 2021
Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter studyEmma N M M von Scheibler, Emy S van der Valk Bouman, Myrthe A Nuijts, et al.
American Journal of Medical Genetics. Part A|January 18, 2022
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse modelsChunyan Wang, Steve Seltzsam, Bixia Zheng, et al.
Pageof 928