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M Baig

Showing results (171-180 of 184) with videos related to

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Clinical Genetics|December 23, 2016
Genetic heterogeneity in Pakistani microcephaly families revisitedI Ahmad, S M Baig, A R Abdulkareem, et al.
Heredity|December 6, 2012
Chicken domestication: an updated perspective based on mitochondrial genomesY-W Miao, M-S Peng, G-S Wu, et al.
American Journal of Medical Genetics. Part A|October 26, 2021
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigreesKamal Khan, Sarmad Mehmood, Chunyu Liu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2024
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotoniaMaria Asif, Arwa Ishaq A Khayyat, Salem Alawbathani, et al.
Nature Communications|November 17, 2020
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesisMuhammad Farooq, Louise Lindbæk, Nicolai Krogh, et al.
American Journal of Human Genetics|March 4, 2022
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsyAmbrin Fatima, Jan Hoeber, Jens Schuster, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 4, 2021
Clinical, histopathologic and molecular features of idiopathic and diabetic nodular mesangial sclerosis in humansMichael T Eadon, Sam Lampe, Mirza M Baig, et al.
American Journal of Human Genetics|March 12, 2021
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsyAmbrin Fatima, Jan Hoeber, Jens Schuster, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and <i>PEX26</i> mutated in Heimler syndromeChristine Neuhaus, Tobias Eisenberger, Christian Decker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystoniaKamal Khan, Michael Zech, Angela T Morgan, et al.
Pageof 19

Showing results (171-180 of 184) with videos related to

Sort By:
Pageof 19
Clinical Genetics|December 23, 2016
Genetic heterogeneity in Pakistani microcephaly families revisitedI Ahmad, S M Baig, A R Abdulkareem, et al.
Heredity|December 6, 2012
Chicken domestication: an updated perspective based on mitochondrial genomesY-W Miao, M-S Peng, G-S Wu, et al.
American Journal of Medical Genetics. Part A|October 26, 2021
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigreesKamal Khan, Sarmad Mehmood, Chunyu Liu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2024
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotoniaMaria Asif, Arwa Ishaq A Khayyat, Salem Alawbathani, et al.
Nature Communications|November 17, 2020
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesisMuhammad Farooq, Louise Lindbæk, Nicolai Krogh, et al.
American Journal of Human Genetics|March 4, 2022
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsyAmbrin Fatima, Jan Hoeber, Jens Schuster, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 4, 2021
Clinical, histopathologic and molecular features of idiopathic and diabetic nodular mesangial sclerosis in humansMichael T Eadon, Sam Lampe, Mirza M Baig, et al.
American Journal of Human Genetics|March 12, 2021
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsyAmbrin Fatima, Jan Hoeber, Jens Schuster, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and <i>PEX26</i> mutated in Heimler syndromeChristine Neuhaus, Tobias Eisenberger, Christian Decker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystoniaKamal Khan, Michael Zech, Angela T Morgan, et al.
Pageof 19