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Mohnish Suri

Showing results (61-70 of 123) with videos related to

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The Journal of Clinical Investigation|May 15, 2025
Genetic variants predisposing to increased risk of kidney stone diseaseCatherine E Lovegrove, Michelle Goldsworthy, Jeremy Haley, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Pierpont syndrome: a collaborative studyEmma M M Burkitt Wright, Mohnish Suri, Susan M White, et al.
American Journal of Medical Genetics. Part A|November 19, 2016
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformationsNicola Dennert, Hartmut Engels, Kirsten Cremer, et al.
American Journal of Human Genetics|August 5, 2017
De Novo Mutations in YWHAG Cause Early-Onset EpilepsyIlaria Guella, Marna B McKenzie, Daniel M Evans, et al.
Brain Communications|March 5, 2025
Biallelic variants in <i>GTF3C3</i> encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafishMohamed S Abdel-Hamid, Adeline Paimboeuf, Maha S Zaki, et al.
European Journal of Human Genetics : EJHG|May 1, 2014
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humansA Gulhan Ercan-Sencicek, Samira Jambi, Daniel Franjic, et al.
Medrxiv : the Preprint Server for Health Sciences|September 16, 2024
Mutations in the U2 snRNA gene <i>RNU2-2P</i> cause a severe neurodevelopmental disorder with prominent epilepsyDaniel Greene, Koenraad De Wispelaere, Jon Lees, et al.
Annals of Neurology|December 15, 2018
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasiaKatherine Schon, Nienke J H van Os, Nicholas Oscroft, et al.
Nature Genetics|March 4, 2003
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humansStephen P Robertson, Stephen R F Twigg, Andrew J Sutherland-Smith, et al.
Brain : a Journal of Neurology|December 21, 2023
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamicsRaffaella De Pace, Reza Maroofian, Adeline Paimboeuf, et al.
Pageof 13

Showing results (61-70 of 123) with videos related to

Sort By:
Pageof 13
The Journal of Clinical Investigation|May 15, 2025
Genetic variants predisposing to increased risk of kidney stone diseaseCatherine E Lovegrove, Michelle Goldsworthy, Jeremy Haley, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Pierpont syndrome: a collaborative studyEmma M M Burkitt Wright, Mohnish Suri, Susan M White, et al.
American Journal of Medical Genetics. Part A|November 19, 2016
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformationsNicola Dennert, Hartmut Engels, Kirsten Cremer, et al.
American Journal of Human Genetics|August 5, 2017
De Novo Mutations in YWHAG Cause Early-Onset EpilepsyIlaria Guella, Marna B McKenzie, Daniel M Evans, et al.
Brain Communications|March 5, 2025
Biallelic variants in <i>GTF3C3</i> encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafishMohamed S Abdel-Hamid, Adeline Paimboeuf, Maha S Zaki, et al.
European Journal of Human Genetics : EJHG|May 1, 2014
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humansA Gulhan Ercan-Sencicek, Samira Jambi, Daniel Franjic, et al.
Medrxiv : the Preprint Server for Health Sciences|September 16, 2024
Mutations in the U2 snRNA gene <i>RNU2-2P</i> cause a severe neurodevelopmental disorder with prominent epilepsyDaniel Greene, Koenraad De Wispelaere, Jon Lees, et al.
Annals of Neurology|December 15, 2018
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasiaKatherine Schon, Nienke J H van Os, Nicholas Oscroft, et al.
Nature Genetics|March 4, 2003
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humansStephen P Robertson, Stephen R F Twigg, Andrew J Sutherland-Smith, et al.
Brain : a Journal of Neurology|December 21, 2023
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamicsRaffaella De Pace, Reza Maroofian, Adeline Paimboeuf, et al.
Pageof 13