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Showing results (471-480 of 555) with videos related to

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Science Advances|January 19, 2022
Biallelic <i>BUB1</i> mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregationSara Carvalhal, Ingrid Bader, Martin A Rooimans, et al.
Journal of Inherited Metabolic Disease|August 14, 2021
Congenital disorders of glycosylation with defective fucosylationAndreas Hüllen, Kristina Falkenstein, Corina Weigel, et al.
The Journal of Clinical Investigation|November 9, 2023
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature deathDenisa Weis, Liangguang L Lin, Huilun H Wang, et al.
American Journal of Clinical Oncology|July 20, 2012
ACR Appropriateness Criteria® definitive therapy for early-stage cervical cancerWilliam Small, Jonathan B Strauss, Anuja Jhingran, et al.
Molecular Genetics and Metabolism|December 3, 2014
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutationsSiddharth Banka, Christian de Goede, Wyatt W Yue, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 22, 2020
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementationDaisy Rymen, Martijn Lindhout, Maria Spanou, et al.
American Journal of Human Genetics|September 13, 2016
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early ChildhoodLaura S Kremer, Katharina Danhauser, Diran Herebian, et al.
Genome Medicine|April 13, 2021
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypesZheng Yie Yap, Yo Han Park, Saskia B Wortmann, et al.
Orphanet Journal of Rare Diseases|September 12, 2014
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patientsAlireza Haghighi, Tobias B Haack, Mehnaz Atiq, et al.
Journal of Medical Genetics|March 8, 2024
Biallelic variants in Plexin B2 (<i>PLXNB2</i>) cause amelogenesis imperfecta, hearing loss and intellectual disabilityClaire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, et al.
Pageof 56

Showing results (471-480 of 555) with videos related to

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Pageof 56
Science Advances|January 19, 2022
Biallelic <i>BUB1</i> mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregationSara Carvalhal, Ingrid Bader, Martin A Rooimans, et al.
Journal of Inherited Metabolic Disease|August 14, 2021
Congenital disorders of glycosylation with defective fucosylationAndreas Hüllen, Kristina Falkenstein, Corina Weigel, et al.
The Journal of Clinical Investigation|November 9, 2023
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature deathDenisa Weis, Liangguang L Lin, Huilun H Wang, et al.
American Journal of Clinical Oncology|July 20, 2012
ACR Appropriateness Criteria® definitive therapy for early-stage cervical cancerWilliam Small, Jonathan B Strauss, Anuja Jhingran, et al.
Molecular Genetics and Metabolism|December 3, 2014
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutationsSiddharth Banka, Christian de Goede, Wyatt W Yue, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 22, 2020
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementationDaisy Rymen, Martijn Lindhout, Maria Spanou, et al.
American Journal of Human Genetics|September 13, 2016
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early ChildhoodLaura S Kremer, Katharina Danhauser, Diran Herebian, et al.
Genome Medicine|April 13, 2021
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypesZheng Yie Yap, Yo Han Park, Saskia B Wortmann, et al.
Orphanet Journal of Rare Diseases|September 12, 2014
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patientsAlireza Haghighi, Tobias B Haack, Mehnaz Atiq, et al.
Journal of Medical Genetics|March 8, 2024
Biallelic variants in Plexin B2 (<i>PLXNB2</i>) cause amelogenesis imperfecta, hearing loss and intellectual disabilityClaire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, et al.
Pageof 56