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Showing results (401-410 of 430) with videos related to

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American Heart Journal|June 2, 2020
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variantsJohanna C Herkert, Judith M A Verhagen, Raquel Yotti, et al.
American Journal of Human Genetics|November 18, 2023
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalitiesFuad Chowdhury, Lei Wang, Mohammed Al-Raqad, et al.
American Journal of Human Genetics|December 4, 2018
The Genetic Landscape of Diamond-Blackfan AnemiaJacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, et al.
Med (New York, N.Y.)|February 12, 2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locusAnn E Frazier, Alison G Compton, Yoshihito Kishita, et al.
American Journal of Human Genetics|February 9, 2019
The Genetic Landscape of Diamond-Blackfan AnemiaJacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, et al.
Nature Genetics|March 3, 2017
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetranceAshley P L Marsh, Delphine Heron, Timothy J Edwards, et al.
Nature Communications|July 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryAndrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
Nature Communications|October 17, 2024
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryAndrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variantsLucilla Pizzo, Matthew Jensen, Andrew Polyak, et al.
Pageof 43

Showing results (401-410 of 430) with videos related to

Sort By:
Pageof 43
American Heart Journal|June 2, 2020
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variantsJohanna C Herkert, Judith M A Verhagen, Raquel Yotti, et al.
American Journal of Human Genetics|November 18, 2023
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalitiesFuad Chowdhury, Lei Wang, Mohammed Al-Raqad, et al.
American Journal of Human Genetics|December 4, 2018
The Genetic Landscape of Diamond-Blackfan AnemiaJacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, et al.
Med (New York, N.Y.)|February 12, 2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locusAnn E Frazier, Alison G Compton, Yoshihito Kishita, et al.
American Journal of Human Genetics|February 9, 2019
The Genetic Landscape of Diamond-Blackfan AnemiaJacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, et al.
Nature Genetics|March 3, 2017
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetranceAshley P L Marsh, Delphine Heron, Timothy J Edwards, et al.
Nature Communications|July 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryAndrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
Nature Communications|October 17, 2024
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryAndrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variantsLucilla Pizzo, Matthew Jensen, Andrew Polyak, et al.
Pageof 43