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Thomas Haaf

Showing results (181-190 of 190) with videos related to

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Genome Medicine|November 30, 2023
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneitySheng-Jia Lin, Barbara Vona, Tracy Lau, et al.
Molecular Medicine (Cambridge, Mass.)|April 7, 2026
Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimicsAsuman Koparir, Paulina Bahena Carbajal, Mina Zamini, et al.
American Journal of Human Genetics|April 30, 2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityHiromi Hirata, Indrajit Nanda, Anne van Riesen, et al.
Cancer Medicine|March 10, 2018
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian CancerJan Hauke, Judit Horvath, Eva Groß, et al.
American Journal of Human Genetics|May 19, 2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulationAlban Ziegler, Rémi Duclaux-Loras, Céline Revenu, et al.
American Journal of Human Genetics|December 14, 2020
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signalingYuh-Charn Lin, Marcello Niceta, Valentina Muto, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 26, 2021
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafishSheng-Jia Lin, Barbara Vona, Patricia G Barbalho, et al.
American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
Cytogenetic and Genome Research|August 19, 2015
Third Report on Chicken Genes and Chromosomes 2015Michael Schmid, Jacqueline Smith, David W Burt, et al.
Human Mutation|May 28, 2019
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationMichael T Parsons, Emma Tudini, Hongyan Li, et al.
Pageof 19

Showing results (181-190 of 190) with videos related to

Sort By:
Pageof 19
You have reached the last page of results.This site can display upto 190 results.
Genome Medicine|November 30, 2023
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneitySheng-Jia Lin, Barbara Vona, Tracy Lau, et al.
Molecular Medicine (Cambridge, Mass.)|April 7, 2026
Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimicsAsuman Koparir, Paulina Bahena Carbajal, Mina Zamini, et al.
American Journal of Human Genetics|April 30, 2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityHiromi Hirata, Indrajit Nanda, Anne van Riesen, et al.
Cancer Medicine|March 10, 2018
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian CancerJan Hauke, Judit Horvath, Eva Groß, et al.
American Journal of Human Genetics|May 19, 2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulationAlban Ziegler, Rémi Duclaux-Loras, Céline Revenu, et al.
American Journal of Human Genetics|December 14, 2020
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signalingYuh-Charn Lin, Marcello Niceta, Valentina Muto, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 26, 2021
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafishSheng-Jia Lin, Barbara Vona, Patricia G Barbalho, et al.
American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
Cytogenetic and Genome Research|August 19, 2015
Third Report on Chicken Genes and Chromosomes 2015Michael Schmid, Jacqueline Smith, David W Burt, et al.
Human Mutation|May 28, 2019
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationMichael T Parsons, Emma Tudini, Hongyan Li, et al.
Pageof 19