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Louise Reilly

Showing results (31-40 of 35) 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.
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|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.
Journal of the American Society of Nephrology : JASN|June 2, 2017
Targeted Exome Sequencing Identifies <i>PBX1</i> as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary TractLaurence Heidet, Vincent Morinière, Charline Henry, et al.
Brain : a Journal of Neurology|October 4, 2017
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cellsMara Cavallin, Maria A Rujano, Nathalie Bednarek, et al.
Pageof 4

Showing results (31-40 of 35) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 35 results.
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.
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|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.
Journal of the American Society of Nephrology : JASN|June 2, 2017
Targeted Exome Sequencing Identifies <i>PBX1</i> as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary TractLaurence Heidet, Vincent Morinière, Charline Henry, et al.
Brain : a Journal of Neurology|October 4, 2017
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cellsMara Cavallin, Maria A Rujano, Nathalie Bednarek, et al.
Pageof 4