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Showing results (811-820 of 835) with videos related to

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The New England Journal of Medicine|January 13, 2012
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletionsMichael J Ombrello, Elaine F Remmers, Guangping Sun, et al.
The New England Journal of Medicine|October 11, 2018
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed DiseaseKimberly Splinter, David R Adams, Carlos A Bacino, et al.
American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.
American Journal of Human Genetics|December 12, 2018
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial DysmorphismJoshi Stephen, Sateesh Maddirevula, Sheela Nampoothiri, et al.
American Journal of Human Genetics|August 6, 2024
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorderMarie Morimoto, Eunjin Ryu, Benjamin J Steger, et al.
Nature Genetics|August 4, 2009
Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.
American Journal of Human Genetics|July 31, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
Nature Genetics|July 31, 2007
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophyAnna Richards, Arn M J M van den Maagdenberg, Joanna C Jen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
Nature Genetics|February 13, 2007
High-throughput oncogene mutation profiling in human cancerRoman K Thomas, Alissa C Baker, Ralph M Debiasi, et al.
Pageof 84

Showing results (811-820 of 835) with videos related to

Sort By:
Pageof 84
The New England Journal of Medicine|January 13, 2012
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletionsMichael J Ombrello, Elaine F Remmers, Guangping Sun, et al.
The New England Journal of Medicine|October 11, 2018
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed DiseaseKimberly Splinter, David R Adams, Carlos A Bacino, et al.
American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.
American Journal of Human Genetics|December 12, 2018
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial DysmorphismJoshi Stephen, Sateesh Maddirevula, Sheela Nampoothiri, et al.
American Journal of Human Genetics|August 6, 2024
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorderMarie Morimoto, Eunjin Ryu, Benjamin J Steger, et al.
Nature Genetics|August 4, 2009
Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.
American Journal of Human Genetics|July 31, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
Nature Genetics|July 31, 2007
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophyAnna Richards, Arn M J M van den Maagdenberg, Joanna C Jen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
Nature Genetics|February 13, 2007
High-throughput oncogene mutation profiling in human cancerRoman K Thomas, Alissa C Baker, Ralph M Debiasi, et al.
Pageof 84