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Mohnish Suri

Showing results (41-50 of 123) with videos related to

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Cancer Medicine|July 26, 2024
Feasibility of whole-body MRI for cancer screening in children and young people with ataxia telangiectasia: A mixed methods cross-sectional studyRenata Neves, Rafal Panek, Katie Clarkson, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 5, 2014
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosisVasyl Nesin, Graham Wiley, Maria Kousi, et al.
Health Expectations : an International Journal of Public Participation in Health Care and Health Policy|March 17, 2023
Whole-body MRI for cancer surveillance in ataxia-telangiectasia: A qualitative study of the perspectives of people affected by A-T and their familiesRenata Neves, Blanca de Dios Perez, Tierney Tindall, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformationsMohnish Suri, Peter Kelehan, David O'neill, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 9, 2018
SLC35A2-related congenital disorder of glycosylation: Defining the phenotypeT Michael Yates, Mohnish Suri, Archana Desurkar, et al.
Molecular Genetics & Genomic Medicine|June 2, 2016
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) geneAude-Annick Suter, Peter Itin, Karl Heinimann, et al.
Journal of Medical Genetics|October 6, 2018
PEHO syndrome: the endpoint of different genetic epilepsiesManali Chitre, Michael S Nahorski, Kaitlin Stouffer, et al.
Human Mutation|October 30, 2016
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe SyndromeJohn Rendu, Rodrick Montjean, Charles Coutton, et al.
American Journal of Medical Genetics. Part A|January 21, 2016
Exploring the genetic basis of 3MC syndrome: Findings in 12 further familiesJill Urquhart, Rebecca Roberts, Deepthi de Silva, et al.
Orphanet Journal of Rare Diseases|January 29, 2014
A novel recurrent mutation in ATP1A3 causes CAPOS syndromeMichelle K Demos, Clara Dm van Karnebeek, Colin Jd Ross, et al.
Pageof 13

Showing results (41-50 of 123) with videos related to

Sort By:
Pageof 13
Cancer Medicine|July 26, 2024
Feasibility of whole-body MRI for cancer screening in children and young people with ataxia telangiectasia: A mixed methods cross-sectional studyRenata Neves, Rafal Panek, Katie Clarkson, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 5, 2014
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosisVasyl Nesin, Graham Wiley, Maria Kousi, et al.
Health Expectations : an International Journal of Public Participation in Health Care and Health Policy|March 17, 2023
Whole-body MRI for cancer surveillance in ataxia-telangiectasia: A qualitative study of the perspectives of people affected by A-T and their familiesRenata Neves, Blanca de Dios Perez, Tierney Tindall, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformationsMohnish Suri, Peter Kelehan, David O'neill, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 9, 2018
SLC35A2-related congenital disorder of glycosylation: Defining the phenotypeT Michael Yates, Mohnish Suri, Archana Desurkar, et al.
Molecular Genetics & Genomic Medicine|June 2, 2016
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) geneAude-Annick Suter, Peter Itin, Karl Heinimann, et al.
Journal of Medical Genetics|October 6, 2018
PEHO syndrome: the endpoint of different genetic epilepsiesManali Chitre, Michael S Nahorski, Kaitlin Stouffer, et al.
Human Mutation|October 30, 2016
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe SyndromeJohn Rendu, Rodrick Montjean, Charles Coutton, et al.
American Journal of Medical Genetics. Part A|January 21, 2016
Exploring the genetic basis of 3MC syndrome: Findings in 12 further familiesJill Urquhart, Rebecca Roberts, Deepthi de Silva, et al.
Orphanet Journal of Rare Diseases|January 29, 2014
A novel recurrent mutation in ATP1A3 causes CAPOS syndromeMichelle K Demos, Clara Dm van Karnebeek, Colin Jd Ross, et al.
Pageof 13