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Muhammad Ansar

Showing results (181-190 of 191) with videos related to

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NPJ Genomic Medicine|November 25, 2021
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole bloodMichael A Levy, David B Beck, Kay Metcalfe, et al.
Cell|May 14, 2011
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathwaysLiyun Sang, Julie J Miller, Kevin C Corbit, et al.
NPJ Genomic Medicine|November 9, 2021
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole bloodMichael A Levy, David B Beck, Kay Metcalfe, et al.
Iscience|May 21, 2026
The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasisHirotaka Ariyama, Atsushi Tsukamura, Satoko Miyatake, et al.
American Journal of Human Genetics|January 25, 2011
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, et al.
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.
American Journal of Human Genetics|August 27, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expressionSamantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
Nature Communications|April 11, 2023
FOXI3 pathogenic variants cause one form of craniofacial microsomiaKe Mao, Christelle Borel, Muhammad Ansar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorderDaniel L Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, et al.
American Journal of Human Genetics|December 31, 2022
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotypeSusan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, et al.
Pageof 20

Showing results (181-190 of 191) with videos related to

Sort By:
Pageof 20
NPJ Genomic Medicine|November 25, 2021
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole bloodMichael A Levy, David B Beck, Kay Metcalfe, et al.
Cell|May 14, 2011
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathwaysLiyun Sang, Julie J Miller, Kevin C Corbit, et al.
NPJ Genomic Medicine|November 9, 2021
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole bloodMichael A Levy, David B Beck, Kay Metcalfe, et al.
Iscience|May 21, 2026
The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasisHirotaka Ariyama, Atsushi Tsukamura, Satoko Miyatake, et al.
American Journal of Human Genetics|January 25, 2011
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, et al.
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.
American Journal of Human Genetics|August 27, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expressionSamantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
Nature Communications|April 11, 2023
FOXI3 pathogenic variants cause one form of craniofacial microsomiaKe Mao, Christelle Borel, Muhammad Ansar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorderDaniel L Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, et al.
American Journal of Human Genetics|December 31, 2022
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotypeSusan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, et al.
Pageof 20