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Alexandre Benmerah

Showing results (71-80 of 82) with videos related to

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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|June 24, 2022
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic DysplasiaMadeline Louise Reilly, Noor Ul Ain, Mari Muurinen, et al.
American Journal of Human Genetics|January 21, 2014
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humansCamille Humbert, Flora Silbermann, Bharti Morar, et al.
Genome Medicine|March 25, 2026
COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohortsAntoine Favier, Stefania Chounta, Alejandro Garcia, et al.
Human Molecular Genetics|October 28, 2017
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical developmentLoïc Broix, Laure Asselin, Carla G Silva, et al.
Human Molecular Genetics|May 2, 2019
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesionMarie Alice Dupont, Camille Humbert, Céline Huber, et al.
Human Molecular Genetics|November 3, 2018
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafishMadeline Louise Reilly, Marijn F Stokman, Virginie Magry, et al.
American Journal of Human Genetics|June 3, 2014
Mutations of CEP83 cause infantile nephronophthisis and intellectual disabilityMarion Failler, Heon Yung Gee, Pauline Krug, et al.
Plos Genetics|March 12, 2016
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP DysregulationValentina Grampa, Marion Delous, Mohamad Zaidan, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 28, 2022
Agonists of prostaglandin E<sub>2</sub> receptors as potential first in class treatment for nephronophthisis and related ciliopathiesHugo Garcia, Alice S Serafin, Flora Silbermann, et al.
Nature Communications|October 22, 2015
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilizationAlbane A Bizet, Anita Becker-Heck, Rebecca Ryan, et al.
Pageof 9

Showing results (71-80 of 82) with videos related to

Sort By:
Pageof 9
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|June 24, 2022
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic DysplasiaMadeline Louise Reilly, Noor Ul Ain, Mari Muurinen, et al.
American Journal of Human Genetics|January 21, 2014
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humansCamille Humbert, Flora Silbermann, Bharti Morar, et al.
Genome Medicine|March 25, 2026
COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohortsAntoine Favier, Stefania Chounta, Alejandro Garcia, et al.
Human Molecular Genetics|October 28, 2017
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical developmentLoïc Broix, Laure Asselin, Carla G Silva, et al.
Human Molecular Genetics|May 2, 2019
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesionMarie Alice Dupont, Camille Humbert, Céline Huber, et al.
Human Molecular Genetics|November 3, 2018
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafishMadeline Louise Reilly, Marijn F Stokman, Virginie Magry, et al.
American Journal of Human Genetics|June 3, 2014
Mutations of CEP83 cause infantile nephronophthisis and intellectual disabilityMarion Failler, Heon Yung Gee, Pauline Krug, et al.
Plos Genetics|March 12, 2016
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP DysregulationValentina Grampa, Marion Delous, Mohamad Zaidan, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 28, 2022
Agonists of prostaglandin E<sub>2</sub> receptors as potential first in class treatment for nephronophthisis and related ciliopathiesHugo Garcia, Alice S Serafin, Flora Silbermann, et al.
Nature Communications|October 22, 2015
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilizationAlbane A Bizet, Anita Becker-Heck, Rebecca Ryan, et al.
Pageof 9