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G Riley

Showing results (381-390 of 522) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 22, 2020
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial diseaseLisa G Riley, Mark J Cowley, Velimir Gayevskiy, et al.
Human Molecular Genetics|January 4, 2015
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemiaMinal J Menezes, Yiran Guo, Jianguo Zhang, et al.
Cold Spring Harbor Molecular Case Studies|April 3, 2021
A description of novel variants and review of phenotypic spectrum in <i>UBA5</i>-related early epileptic encephalopathyLauren C Briere, Melissa A Walker, Frances A High, et al.
Journal of Clinical Medicine|November 23, 2019
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> VariantsRocio Rius, Nicole J Van Bergen, Alison G Compton, et al.
Human Mutation|May 23, 2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathyLisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, et al.
American Journal of Human Genetics|June 19, 2018
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol BiosynthesisDavid Coman, Lisenka E L M Vissers, Lisa G Riley, et al.
Journal of Medicinal Chemistry|May 9, 1998
The selective 5-HT1B receptor inverse agonist 1'-methyl-5-[[2'-methyl-4'-(5-methyl-1,2, 4-oxadiazol-3-yl)biphenyl-4-yl]carbonyl]-2,3,6,7-tetrahydro- spiro[furo[2,3-f]indole-3,4'-piperidine] (SB-224289) potently blocks terminal 5-HT autoreceptor function both in vitro and in vivoL M Gaster, F E Blaney, S Davies, et al.
Neurology|February 10, 2019
Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophyMarjo S van der Knaap, Marianna Bugiani, Marisa I Mendes, et al.
Journal of Animal Science|October 7, 2015
Technical note: Digital quantification of eye pigmentation of cattle with white facesK M Davis, T Smith, B Bolt, et al.
Genetics and Molecular Research : GMR|March 25, 2017
SNP detection using RNA-sequences of candidate genes associated with puberty in cattleM M Dias, A Cánovas, C Mantilla-Rojas, et al.
Pageof 53

Showing results (381-390 of 522) with videos related to

Sort By:
Pageof 53
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 22, 2020
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial diseaseLisa G Riley, Mark J Cowley, Velimir Gayevskiy, et al.
Human Molecular Genetics|January 4, 2015
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemiaMinal J Menezes, Yiran Guo, Jianguo Zhang, et al.
Cold Spring Harbor Molecular Case Studies|April 3, 2021
A description of novel variants and review of phenotypic spectrum in <i>UBA5</i>-related early epileptic encephalopathyLauren C Briere, Melissa A Walker, Frances A High, et al.
Journal of Clinical Medicine|November 23, 2019
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> VariantsRocio Rius, Nicole J Van Bergen, Alison G Compton, et al.
Human Mutation|May 23, 2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathyLisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, et al.
American Journal of Human Genetics|June 19, 2018
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol BiosynthesisDavid Coman, Lisenka E L M Vissers, Lisa G Riley, et al.
Journal of Medicinal Chemistry|May 9, 1998
The selective 5-HT1B receptor inverse agonist 1'-methyl-5-[[2'-methyl-4'-(5-methyl-1,2, 4-oxadiazol-3-yl)biphenyl-4-yl]carbonyl]-2,3,6,7-tetrahydro- spiro[furo[2,3-f]indole-3,4'-piperidine] (SB-224289) potently blocks terminal 5-HT autoreceptor function both in vitro and in vivoL M Gaster, F E Blaney, S Davies, et al.
Neurology|February 10, 2019
Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophyMarjo S van der Knaap, Marianna Bugiani, Marisa I Mendes, et al.
Journal of Animal Science|October 7, 2015
Technical note: Digital quantification of eye pigmentation of cattle with white facesK M Davis, T Smith, B Bolt, et al.
Genetics and Molecular Research : GMR|March 25, 2017
SNP detection using RNA-sequences of candidate genes associated with puberty in cattleM M Dias, A Cánovas, C Mantilla-Rojas, et al.
Pageof 53