Showing results (211-220 of 386) with videos related to

Sort By:
Pageof 39
American Journal of Human Genetics|February 21, 2025
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing dataMeltem Ece Kars, David Stein, Peter D Stenson, et al.
Human Mutation|January 4, 2020
Elucidation of de novo small insertion/deletion biology with parent-of-origin phasingAllison H Seiden, Felix Richter, Nihir Patel, et al.
Human Molecular Genetics|March 29, 2008
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromesSimone Martinelli, Paola Torreri, Michele Tinti, et al.
European Journal of Human Genetics : EJHG|March 17, 2019
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patientsRoser Urreizti, Klaus Mayer, Gilad D Evrony, et al.
European Journal of Human Genetics : EJHG|September 4, 2019
Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patientsRoser Urreizti, Klaus Mayer, Gilad D Evrony, et al.
Blood|February 26, 2004
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemiaMarco Tartaglia, Simone Martinelli, Giovanni Cazzaniga, et al.
The Journal of Biological Chemistry|June 20, 2012
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndromeSimone Martinelli, Aurelio P Nardozza, Silvia Delle Vigne, et al.
The Journal of Clinical Investigation|March 13, 1999
Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosisW S Hou, D Brömme, Y Zhao, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 21, 2022
The heart in RASopathiesAngelica Bibiana Delogu, Giuseppe Limongelli, Paolo Versacci, et al.
Pediatrics|July 20, 2023
Parent-Reported Clinical Utility of Pediatric Genomic SequencingHadley Stevens Smith, Bart S Ferket, Bruce D Gelb, et al.
Pageof 39