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Sadaf Naz

Showing results (81-90 of 89) with videos related to

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BMC Musculoskeletal Disorders|August 30, 2022
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindredsMehran Kausar, Noor Ul Ain, Farzana Hayat, et al.
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.
Journal of Neurology|February 14, 2016
The role of mutations in COL6A3 in isolated dystoniaKatja Lohmann, Felix Schlicht, Marina Svetel, et al.
Human Mutation|July 15, 2021
Variants of human CLDN9 cause mild to profound hearing lossMemoona Ramzan, Christophe Philippe, Inna A Belyantseva, et al.
Nature Genetics|February 19, 2002
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell functionKiyoto Kurima, Linda M Peters, Yandan Yang, et al.
Scientific Reports|May 5, 2026
Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from PakistanMemoona Ramzan, Hafiza Idrees, Hina Khan, et al.
Human Molecular Genetics|January 3, 2018
CDC14A phosphatase is essential for hearing and male fertility in mouse and humanAyesha Imtiaz, Inna A Belyantseva, Alisha J Beirl, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, et al.
Brain : a Journal of Neurology|December 18, 2024
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorderGabriel N Aughey, Elisa Cali, Reza Maroofian, et al.
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Showing results (81-90 of 89) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 89 results.
BMC Musculoskeletal Disorders|August 30, 2022
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindredsMehran Kausar, Noor Ul Ain, Farzana Hayat, et al.
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.
Journal of Neurology|February 14, 2016
The role of mutations in COL6A3 in isolated dystoniaKatja Lohmann, Felix Schlicht, Marina Svetel, et al.
Human Mutation|July 15, 2021
Variants of human CLDN9 cause mild to profound hearing lossMemoona Ramzan, Christophe Philippe, Inna A Belyantseva, et al.
Nature Genetics|February 19, 2002
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell functionKiyoto Kurima, Linda M Peters, Yandan Yang, et al.
Scientific Reports|May 5, 2026
Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from PakistanMemoona Ramzan, Hafiza Idrees, Hina Khan, et al.
Human Molecular Genetics|January 3, 2018
CDC14A phosphatase is essential for hearing and male fertility in mouse and humanAyesha Imtiaz, Inna A Belyantseva, Alisha J Beirl, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, et al.
Brain : a Journal of Neurology|December 18, 2024
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorderGabriel N Aughey, Elisa Cali, Reza Maroofian, et al.
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