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Martin J Larsen

Showing results (31-40 of 45) with videos related to

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Breast Cancer Research : BCR|June 14, 2023
Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAnessLars V B Andersen, Martin J Larsen, Helen Davies, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 17, 2015
Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65)Anja L Frederiksen, Martin J Larsen, Klaus Brusgaard, et al.
American Journal of Human Genetics|December 9, 2017
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait AbnormalitiesSonja Martin, Adam Chamberlin, Deepali N Shinde, et al.
Clinical Genetics|November 13, 2018
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movementsBitten Schönewolf-Greulich, Anne-Marie Bisgaard, Morten Dunø, et al.
Brain : a Journal of Neurology|December 20, 2019
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegenerationChristina R Fagerberg, Adrian Taylor, Felix Distelmaier, et al.
American Journal of Human Genetics|April 11, 2020
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac AbnormalitiesAlison M Muir, Jennifer L Cohen, Sarah E Sheppard, et al.
Breast Cancer Research : BCR|January 9, 2024
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variantInes Block, Àngels Mateu-Regué, Thi Tuyet Nhu Do, et al.
Clinical Genetics|July 23, 2021
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteinsSmrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, et al.
American Journal of Medical Genetics. Part A|September 12, 2025
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental DisorderSamuel M Bradbrook, Gail Graham, Melissa T Carter, et al.
European Journal of Human Genetics : EJHG|December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencySandra Jansen, Alexander Hoischen, Bradley P Coe, et al.
Pageof 5

Showing results (31-40 of 45) with videos related to

Sort By:
Pageof 5
Breast Cancer Research : BCR|June 14, 2023
Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAnessLars V B Andersen, Martin J Larsen, Helen Davies, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 17, 2015
Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65)Anja L Frederiksen, Martin J Larsen, Klaus Brusgaard, et al.
American Journal of Human Genetics|December 9, 2017
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait AbnormalitiesSonja Martin, Adam Chamberlin, Deepali N Shinde, et al.
Clinical Genetics|November 13, 2018
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movementsBitten Schönewolf-Greulich, Anne-Marie Bisgaard, Morten Dunø, et al.
Brain : a Journal of Neurology|December 20, 2019
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegenerationChristina R Fagerberg, Adrian Taylor, Felix Distelmaier, et al.
American Journal of Human Genetics|April 11, 2020
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac AbnormalitiesAlison M Muir, Jennifer L Cohen, Sarah E Sheppard, et al.
Breast Cancer Research : BCR|January 9, 2024
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variantInes Block, Àngels Mateu-Regué, Thi Tuyet Nhu Do, et al.
Clinical Genetics|July 23, 2021
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteinsSmrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, et al.
American Journal of Medical Genetics. Part A|September 12, 2025
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental DisorderSamuel M Bradbrook, Gail Graham, Melissa T Carter, et al.
European Journal of Human Genetics : EJHG|December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencySandra Jansen, Alexander Hoischen, Bradley P Coe, et al.
Pageof 5