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Showing results (431-440 of 453) with videos related to

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Human Molecular Genetics|October 11, 2018
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem diseaseKatie B Williams, Karlla W Brigatti, Erik G Puffenberger, et al.
Plos One|January 27, 2012
Genetic mapping and exome sequencing identify variants associated with five novel diseasesErik G Puffenberger, Robert N Jinks, Carrie Sougnez, et al.
American Journal of Human Genetics|November 5, 2016
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly VariantNataliya Di Donato, Ying Y Jean, A Murat Maga, et al.
Science Translational Medicine|February 26, 2025
<i>BCKDHA-BCKDHB</i> digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine diseaseJiaming Wang, Laura E Poskitt, Jillian Gallagher, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental DelayMarie Morimoto, Helen Waller-Evans, Zineb Ammous, et al.
Brain : a Journal of Neurology|June 14, 2015
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73Robert N Jinks, Erik G Puffenberger, Emma Baple, et al.
Nature|December 20, 2003
A gravitationally lensed quasar with quadruple images separated by 14.62 arcsecondsNaohisa Inada, Masamune Oguri, Bartosz Pindor, et al.
Annals of Neurology|October 11, 2019
Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental DisordersSeok Kyu Kang, Carlos G Vanoye, Sunita N Misra, et al.
American Journal of Human Genetics|December 5, 2017
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 DeletionsTiong Yang Tan, Claudia Gonzaga-Jauregui, Elizabeth J Bhoj, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 14, 2025
A rare variant in <i>GPR156</i> associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in miceBradley R Miller, Claudia Gonzaga-Jauregui, Karlla W Brigatti, et al.
Pageof 46

Showing results (431-440 of 453) with videos related to

Sort By:
Pageof 46
Human Molecular Genetics|October 11, 2018
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem diseaseKatie B Williams, Karlla W Brigatti, Erik G Puffenberger, et al.
Plos One|January 27, 2012
Genetic mapping and exome sequencing identify variants associated with five novel diseasesErik G Puffenberger, Robert N Jinks, Carrie Sougnez, et al.
American Journal of Human Genetics|November 5, 2016
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly VariantNataliya Di Donato, Ying Y Jean, A Murat Maga, et al.
Science Translational Medicine|February 26, 2025
<i>BCKDHA-BCKDHB</i> digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine diseaseJiaming Wang, Laura E Poskitt, Jillian Gallagher, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental DelayMarie Morimoto, Helen Waller-Evans, Zineb Ammous, et al.
Brain : a Journal of Neurology|June 14, 2015
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73Robert N Jinks, Erik G Puffenberger, Emma Baple, et al.
Nature|December 20, 2003
A gravitationally lensed quasar with quadruple images separated by 14.62 arcsecondsNaohisa Inada, Masamune Oguri, Bartosz Pindor, et al.
Annals of Neurology|October 11, 2019
Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental DisordersSeok Kyu Kang, Carlos G Vanoye, Sunita N Misra, et al.
American Journal of Human Genetics|December 5, 2017
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 DeletionsTiong Yang Tan, Claudia Gonzaga-Jauregui, Elizabeth J Bhoj, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 14, 2025
A rare variant in <i>GPR156</i> associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in miceBradley R Miller, Claudia Gonzaga-Jauregui, Karlla W Brigatti, et al.
Pageof 46