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American Journal of Human Genetics|March 5, 2013
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasiaNaiara Akizu, Nuri M Shembesh, Tawfeg Ben-Omran, et al.
Human Mutation|January 16, 2007
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot regionElke M Botzenhart, Gabriella Bartalini, Edward Blair, et al.
Genes|March 29, 2023
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion SyndromeMarta Smyk, Maciej Geremek, Kamila Ziemkiewicz, et al.
American Journal of Medical Genetics. Part A|November 16, 2007
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literatureEmily S Doherty, Felicitas Lacbawan, Donald W Hadley, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new casesTara L Wenger, Margaret Harr, Stefania Ricciardi, et al.
American Journal of Medical Genetics. Part A|October 14, 2003
Toriello-Carey syndrome: delineation and reviewHelga V Toriello, John C Carey, Marie-Claude Addor, et al.
Genetic Testing|January 1, 1997
The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patientsD M McDonald-McGinn, D LaRossa, E Goldmuntz, et al.
American Journal of Medical Genetics. Part A|November 15, 2007
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patientsRobert L Conway, Barry D Pressman, William B Dobyns, et al.
American Journal of Medical Genetics. Part A|February 6, 2019
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutationsKatheryn Grand, Christina Gonzalez-Gandolfi, Amanda M Ackermann, et al.
American Journal of Medical Genetics. Part A|March 15, 2016
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findingsMadeleine Tooley, Danielle Lynch, Francois Bernier, et al.
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