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Janine Smith

Showing results (21-30 of 39) with videos related to

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BMJ Open|September 12, 2023
Study of How Adiposity in Pregnancy has an Effect on outcomeS (SHAPES): protocol for a prospective cohort studyNicola Heslehurst, Raya Vinogradov, Giang T Nguyen, et al.
American Journal of Human Genetics|May 20, 2005
Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophyShouling Li, Leila Tiab, Xiaodong Jiao, et al.
European Journal of Human Genetics : EJHG|May 30, 2024
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathyLisa G Riley, Subrata Sabui, Hamid M Said, et al.
Journal of Paediatrics and Child Health|April 12, 2024
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicineAlan Ma, Timothy P Newing, Rosie O'Shea, et al.
Annals of Neurology|December 11, 2008
Brain involvement in muscular dystrophies with defective dystroglycan glycosylationEmma Clement, Eugenio Mercuri, Caroline Godfrey, et al.
Brain : a Journal of Neurology|September 20, 2007
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanCaroline Godfrey, Emma Clement, Rachael Mein, et al.
American Journal of Human Genetics|November 15, 2011
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndromeJill Clayton-Smith, James O'Sullivan, Sarah Daly, et al.
Nature Genetics|November 12, 2005
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathyJan Senderek, Michael Krieger, Claudia Stendel, et al.
Nature Genetics|May 4, 2010
De novo mutations of SETBP1 cause Schinzel-Giedion syndromeAlexander Hoischen, Bregje W M van Bon, Christian Gilissen, et al.
Human Mutation|April 3, 2008
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathyMontserrat Rodríguez-Ballesteros, Raúl Reynoso, Margarita Olarte, et al.
Pageof 4

Showing results (21-30 of 39) with videos related to

Sort By:
Pageof 4
BMJ Open|September 12, 2023
Study of How Adiposity in Pregnancy has an Effect on outcomeS (SHAPES): protocol for a prospective cohort studyNicola Heslehurst, Raya Vinogradov, Giang T Nguyen, et al.
American Journal of Human Genetics|May 20, 2005
Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophyShouling Li, Leila Tiab, Xiaodong Jiao, et al.
European Journal of Human Genetics : EJHG|May 30, 2024
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathyLisa G Riley, Subrata Sabui, Hamid M Said, et al.
Journal of Paediatrics and Child Health|April 12, 2024
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicineAlan Ma, Timothy P Newing, Rosie O'Shea, et al.
Annals of Neurology|December 11, 2008
Brain involvement in muscular dystrophies with defective dystroglycan glycosylationEmma Clement, Eugenio Mercuri, Caroline Godfrey, et al.
Brain : a Journal of Neurology|September 20, 2007
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanCaroline Godfrey, Emma Clement, Rachael Mein, et al.
American Journal of Human Genetics|November 15, 2011
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndromeJill Clayton-Smith, James O'Sullivan, Sarah Daly, et al.
Nature Genetics|November 12, 2005
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathyJan Senderek, Michael Krieger, Claudia Stendel, et al.
Nature Genetics|May 4, 2010
De novo mutations of SETBP1 cause Schinzel-Giedion syndromeAlexander Hoischen, Bregje W M van Bon, Christian Gilissen, et al.
Human Mutation|April 3, 2008
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathyMontserrat Rodríguez-Ballesteros, Raúl Reynoso, Margarita Olarte, et al.
Pageof 4