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Mohnish Suri

Showing results (31-40 of 123) with videos related to

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Archives of Disease in Childhood|August 31, 2016
Growth and nutrition in children with ataxia telangiectasiaEmma Stewart, Andrew P Prayle, Alison Tooke, et al.
American Journal of Medical Genetics. Part A|January 19, 2006
A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindredLilei Zhang, Tao Wang, Alan F Wright, et al.
Orphanet Journal of Rare Diseases|June 20, 2025
Quantification of liver fat fraction using T1-weighted mDixon MRI in young patients with ataxia telangiectasia undergoing whole-body MRI: an exploratory studySoma Kumasaka, Rafal Panek, Renata Neves, et al.
American Journal of Medical Genetics. Part A|August 14, 2012
17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrumAbhijit Dixit, Chirag Patel, Rachel Harrison, et al.
American Journal of Medical Genetics. Part A|June 10, 2024
Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survivalEmma M Wade, Tim Morgan, Gregory Gimenez, et al.
Clinical Dysmorphology|March 26, 2009
Griscelli syndrome type 1: a report of two cases and review of the literatureEllen R Thomas, Lisa J Walker, Sunil Pullaperuma, et al.
American Journal of Human Genetics|October 22, 2019
Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like SyndromeHessa S Alsaif, Mohammad Al-Owain, Martin E Barrios-Llerena, et al.
Journal of Human Genetics|March 21, 2014
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalitiesToshiyuki Yamamoto, Anna Wilsdon, Shelagh Joss, et al.
American Journal of Medical Genetics. Part A|May 3, 2016
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple eventsChristine M Armour, Amanda Smith, Taila Hartley, et al.
Scientific Reports|March 26, 2022
Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecanEva-Lena Stattin, Karin Lindblom, André Struglics, et al.
Pageof 13

Showing results (31-40 of 123) with videos related to

Sort By:
Pageof 13
Archives of Disease in Childhood|August 31, 2016
Growth and nutrition in children with ataxia telangiectasiaEmma Stewart, Andrew P Prayle, Alison Tooke, et al.
American Journal of Medical Genetics. Part A|January 19, 2006
A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindredLilei Zhang, Tao Wang, Alan F Wright, et al.
Orphanet Journal of Rare Diseases|June 20, 2025
Quantification of liver fat fraction using T1-weighted mDixon MRI in young patients with ataxia telangiectasia undergoing whole-body MRI: an exploratory studySoma Kumasaka, Rafal Panek, Renata Neves, et al.
American Journal of Medical Genetics. Part A|August 14, 2012
17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrumAbhijit Dixit, Chirag Patel, Rachel Harrison, et al.
American Journal of Medical Genetics. Part A|June 10, 2024
Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survivalEmma M Wade, Tim Morgan, Gregory Gimenez, et al.
Clinical Dysmorphology|March 26, 2009
Griscelli syndrome type 1: a report of two cases and review of the literatureEllen R Thomas, Lisa J Walker, Sunil Pullaperuma, et al.
American Journal of Human Genetics|October 22, 2019
Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like SyndromeHessa S Alsaif, Mohammad Al-Owain, Martin E Barrios-Llerena, et al.
Journal of Human Genetics|March 21, 2014
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalitiesToshiyuki Yamamoto, Anna Wilsdon, Shelagh Joss, et al.
American Journal of Medical Genetics. Part A|May 3, 2016
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple eventsChristine M Armour, Amanda Smith, Taila Hartley, et al.
Scientific Reports|March 26, 2022
Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecanEva-Lena Stattin, Karin Lindblom, André Struglics, et al.
Pageof 13