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Showing results (891-900 of 934) with videos related to

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American Journal of Human Genetics|March 5, 2025
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiencyHuw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.
Science (New York, N.Y.)|May 25, 2019
Germline selection shapes human mitochondrial DNA diversityWei Wei, Salih Tuna, Michael J Keogh, et al.
The Lancet. Neurology|December 3, 2013
The genetic basis of DOORS syndrome: an exome-sequencing studyPhilippe M Campeau, Dalia Kasperaviciute, James T Lu, et al.
Journal of the American Society of Nephrology : JASN|August 23, 2014
Urinary tract effects of HPSE2 mutationsHelen M Stuart, Neil A Roberts, Emma N Hilton, et al.
Frontiers in Cell and Developmental Biology|August 28, 2020
<i>SLC20A1</i> Is Involved in Urinary Tract and Urorectal DevelopmentJohanna Magdalena Rieke, Rong Zhang, Doreen Braun, et al.
Nature Genetics|March 28, 2026
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosityHye In Kim, Christopher DeBoever, Klaudia Walter, et al.
Annals of the Rheumatic Diseases|December 15, 2025
Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndromeClémence David, Nadia Nathan, Eslam Al-Abadi, et al.
Breast Cancer Research : BCR|April 13, 2022
Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel lociHongjie Chen, Shaoqi Fan, Jennifer Stone, et al.
Clinical Pharmacology and Therapeutics|September 25, 2013
CYP2D6 genotype and adjuvant tamoxifen: meta-analysis of heterogeneous study populationsM A Province, M P Goetz, H Brauch, et al.
The Lancet. Neurology|July 19, 2025
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case seriesJ Robert Harkness, John H McDermott, Shea Marsden, et al.
Pageof 94

Showing results (891-900 of 934) with videos related to

Sort By:
Pageof 94
American Journal of Human Genetics|March 5, 2025
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiencyHuw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.
Science (New York, N.Y.)|May 25, 2019
Germline selection shapes human mitochondrial DNA diversityWei Wei, Salih Tuna, Michael J Keogh, et al.
The Lancet. Neurology|December 3, 2013
The genetic basis of DOORS syndrome: an exome-sequencing studyPhilippe M Campeau, Dalia Kasperaviciute, James T Lu, et al.
Journal of the American Society of Nephrology : JASN|August 23, 2014
Urinary tract effects of HPSE2 mutationsHelen M Stuart, Neil A Roberts, Emma N Hilton, et al.
Frontiers in Cell and Developmental Biology|August 28, 2020
<i>SLC20A1</i> Is Involved in Urinary Tract and Urorectal DevelopmentJohanna Magdalena Rieke, Rong Zhang, Doreen Braun, et al.
Nature Genetics|March 28, 2026
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosityHye In Kim, Christopher DeBoever, Klaudia Walter, et al.
Annals of the Rheumatic Diseases|December 15, 2025
Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndromeClémence David, Nadia Nathan, Eslam Al-Abadi, et al.
Breast Cancer Research : BCR|April 13, 2022
Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel lociHongjie Chen, Shaoqi Fan, Jennifer Stone, et al.
Clinical Pharmacology and Therapeutics|September 25, 2013
CYP2D6 genotype and adjuvant tamoxifen: meta-analysis of heterogeneous study populationsM A Province, M P Goetz, H Brauch, et al.
The Lancet. Neurology|July 19, 2025
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case seriesJ Robert Harkness, John H McDermott, Shea Marsden, et al.
Pageof 94