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Jan M Friedman

Showing results (131-140 of 165) with videos related to

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American Journal of Medical Genetics. Part A|September 13, 2017
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathyMy Linh Thibodeau, Colin H Peters, Katelin N Townsend, et al.
Cold Spring Harbor Molecular Case Studies|October 26, 2021
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implicationsCourtney B Cook, Linlea Armstrong, Cornelius F Boerkoel, et al.
BMC Medical Genomics|March 29, 2011
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardationTracy Tucker, Alexandre Montpetit, David Chai, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine|February 26, 2019
Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathyAndreas Brodehl, Saman Rezazadeh, Tatjana Williams, et al.
American Journal of Medical Genetics. Part A|December 17, 2019
Renpenning syndrome in a femaleRaymond Y Cho, Maria S Peñaherrera, Christele Du Souich, et al.
Journal of Medical Genetics|August 16, 2015
Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patientsAdam Hexter, Adrian Jones, Harry Joe, et al.
Neurogenetics|July 2, 2021
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effectsClara D van Karnebeek, Ingrid Blydt-Hansen, Allison M Matthews, et al.
European Journal of Human Genetics : EJHG|February 28, 2013
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutationCristina Dias, Allison McDonald, Murat Sincan, et al.
Human Molecular Genetics|September 24, 2020
A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiencyHilal H Al-Shekaili, Terri L Petkau, Izabella Pena, et al.
BMC Genomics|May 26, 2017
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual DisabilityFarah R Zahir, Jill C Mwenifumbo, Hye-Jung E Chun, et al.
Pageof 17

Showing results (131-140 of 165) with videos related to

Sort By:
Pageof 17
American Journal of Medical Genetics. Part A|September 13, 2017
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathyMy Linh Thibodeau, Colin H Peters, Katelin N Townsend, et al.
Cold Spring Harbor Molecular Case Studies|October 26, 2021
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implicationsCourtney B Cook, Linlea Armstrong, Cornelius F Boerkoel, et al.
BMC Medical Genomics|March 29, 2011
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardationTracy Tucker, Alexandre Montpetit, David Chai, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine|February 26, 2019
Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathyAndreas Brodehl, Saman Rezazadeh, Tatjana Williams, et al.
American Journal of Medical Genetics. Part A|December 17, 2019
Renpenning syndrome in a femaleRaymond Y Cho, Maria S Peñaherrera, Christele Du Souich, et al.
Journal of Medical Genetics|August 16, 2015
Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patientsAdam Hexter, Adrian Jones, Harry Joe, et al.
Neurogenetics|July 2, 2021
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effectsClara D van Karnebeek, Ingrid Blydt-Hansen, Allison M Matthews, et al.
European Journal of Human Genetics : EJHG|February 28, 2013
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutationCristina Dias, Allison McDonald, Murat Sincan, et al.
Human Molecular Genetics|September 24, 2020
A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiencyHilal H Al-Shekaili, Terri L Petkau, Izabella Pena, et al.
BMC Genomics|May 26, 2017
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual DisabilityFarah R Zahir, Jill C Mwenifumbo, Hye-Jung E Chun, et al.
Pageof 17