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Susan Blaser

Showing results (161-170 of 178) with videos related to

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The Journal of Pediatrics|August 28, 2019
Brain Injury in Infants with Critical Congenital Heart Disease: Insights from Two Clinical Cohorts with Different Practice ApproachesNathalie H P Claessens, Vann Chau, Linda S de Vries, et al.
American Journal of Medical Genetics. Part A|June 23, 2021
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challengesSusan Walker, Sylvia Lamoureux, Tayyaba Khan, et al.
Human Molecular Genetics|January 30, 2013
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndromeKaren Buysse, Moniek Riemersma, Gareth Powell, et al.
Brain : a Journal of Neurology|March 14, 2013
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathySietske H Kevelam, Marianna Bugiani, Gajja S Salomons, et al.
Clinical Genetics|September 5, 2020
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiencyMaian Roifman, Kirsten M Niles, Lauren MacNeil, et al.
Neurology|September 22, 2017
<i>UFM1</i> founder mutation in the Roma population causes recessive variant of H-ABCEline M C Hamilton, Enrico Bertini, Luba Kalaydjieva, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
De novo missense variants in RAC3 cause a novel neurodevelopmental syndromeGregory Costain, Bert Callewaert, Heinz Gabriel, et al.
American Journal of Medical Genetics. Part A|April 9, 2023
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature reviewAmanda Thomas-Wilson, John P Schacht, David Chitayat, et al.
Brain : a Journal of Neurology|March 27, 2015
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxiaRebekah K Jobling, Mirna Assoum, Oleksandr Gakh, et al.
American Journal of Human Genetics|May 7, 2013
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticityRyan J Taft, Adeline Vanderver, Richard J Leventer, et al.
Pageof 18

Showing results (161-170 of 178) with videos related to

Sort By:
Pageof 18
The Journal of Pediatrics|August 28, 2019
Brain Injury in Infants with Critical Congenital Heart Disease: Insights from Two Clinical Cohorts with Different Practice ApproachesNathalie H P Claessens, Vann Chau, Linda S de Vries, et al.
American Journal of Medical Genetics. Part A|June 23, 2021
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challengesSusan Walker, Sylvia Lamoureux, Tayyaba Khan, et al.
Human Molecular Genetics|January 30, 2013
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndromeKaren Buysse, Moniek Riemersma, Gareth Powell, et al.
Brain : a Journal of Neurology|March 14, 2013
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathySietske H Kevelam, Marianna Bugiani, Gajja S Salomons, et al.
Clinical Genetics|September 5, 2020
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiencyMaian Roifman, Kirsten M Niles, Lauren MacNeil, et al.
Neurology|September 22, 2017
<i>UFM1</i> founder mutation in the Roma population causes recessive variant of H-ABCEline M C Hamilton, Enrico Bertini, Luba Kalaydjieva, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
De novo missense variants in RAC3 cause a novel neurodevelopmental syndromeGregory Costain, Bert Callewaert, Heinz Gabriel, et al.
American Journal of Medical Genetics. Part A|April 9, 2023
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature reviewAmanda Thomas-Wilson, John P Schacht, David Chitayat, et al.
Brain : a Journal of Neurology|March 27, 2015
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxiaRebekah K Jobling, Mirna Assoum, Oleksandr Gakh, et al.
American Journal of Human Genetics|May 7, 2013
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticityRyan J Taft, Adeline Vanderver, Richard J Leventer, et al.
Pageof 18