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American Journal of Human Genetics|March 5, 2013
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromesMaria Delio, Tingwei Guo, Donna M McDonald-McGinn, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 22, 2009
TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosisSheila Santín, Elisabet Ars, Sandro Rossetti, et al.Human Mutation|July 17, 2015
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationKitiwan Rojnueangnit, Jing Xie, Alicia Gomes, et al.American Journal of Hematology|November 20, 2024
Prognostic significance of mutation type and chromosome fragility in Fanconi anemiaMaría José Ramírez, Roser Pujol, Jordi Minguillón, et al.Molecular Psychiatry|February 5, 2020
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletionIsabelle Cleynen, Worrawat Engchuan, Matthew S Hestand, et al.Pageof 8