Showing results (3521-3530 of 5,826) with videos related to

Sort By:
Pageof 583
Human Mutation|August 21, 2019
De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseasesJia Li, Jin Zhang, Weiting Tang, et al.
Human Mutation|September 11, 2019
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformationsAnne-Sophie Jourdain, Florence Petit, Marie-Françoise Odou, et al.
Human Mutation|March 1, 2019
RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibilityAlejandra Tavera-Tapia, Miguel de la Hoya, Oriol Calvete, et al.
Human Mutation|March 1, 2019
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported IndividualsBobby G Ng, Paulina Sosicka, Satish Agadi, et al.
Human Mutation|March 3, 2019
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlationsDiana Carli, Elisa Giorgio, Francesca Pantaleoni, et al.
Human Mutation|March 3, 2019
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disordersChristina Zeitz, Christelle Michiels, Marion Neuillé, et al.
Human Mutation|October 27, 2018
Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signaturesEster Castellsagué, Rui Li, Rosa Aligue, et al.
Human Mutation|October 30, 2018
The role of translation elongation factor eEF1 subunits in neurodevelopmental disordersFiona McLachlan, Anna Martinez Sires, Catherine M Abbott
Human Mutation|December 17, 2021
Distinct sequence features underlie microdeletions and gross deletions in the human genomeMengling Qi, Peter D Stenson, Edward V Ball, et al.
Human Mutation|December 19, 2021
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitisShin Hamada, Emmanuelle Masson, Jian-Min Chen, et al.
Pageof 583