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Showing results (161-170 of 232) with videos related to

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European Journal of Human Genetics : EJHG|October 25, 2023
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephalyEyyup Uctepe, Barbara Vona, Fatma Nisa Esen, et al.
Annales De Pathologie|May 30, 2016
[Ductal carcinoma in situ diagnosis: 3 French national guidelines]Bruno Cutuli, Christine Tunon De Lara, Antoine Arnaud, et al.
European Journal of Medical Genetics|August 30, 2011
Systematic search for neutropenia should be part of the first screening in patients with poikilodermaJuliette Piard, Muriel Holder-Espinasse, Bernard Aral, et al.
Neuromuscular Disorders : NMD|July 6, 2011
Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathiesS Vuillaumier-Barrot, C Bouchet-Seraphin, M Chelbi, et al.
Brain : a Journal of Neurology|December 4, 2018
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephalyArtem Kim, Clara Savary, Christèle Dubourg, et al.
European Journal of Medical Genetics|June 10, 2009
Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated casesCaroline Schluth-Bolard, Bruno Delobel, Damien Sanlaville, et al.
Neuroimage. Clinical|December 1, 2018
Anatomical and functional abnormalities on MRI in kabuki syndromeJennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaître, et al.
Scientific Reports|March 22, 2019
Comparison of supine or prone crawl photon or proton breast and regional lymph node radiation therapy including the internal mammary chainBruno A Speleers, Francesca M Belosi, Werner R De Gersem, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 18, 2009
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutationsG Solé, I Coupry, C Rooryck, et al.
Human Mutation|November 14, 2008
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literatureBert L Callewaert, Bart L Loeys, Anna Ficcadenti, et al.
Pageof 24

Showing results (161-170 of 232) with videos related to

Sort By:
Pageof 24
European Journal of Human Genetics : EJHG|October 25, 2023
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephalyEyyup Uctepe, Barbara Vona, Fatma Nisa Esen, et al.
Annales De Pathologie|May 30, 2016
[Ductal carcinoma in situ diagnosis: 3 French national guidelines]Bruno Cutuli, Christine Tunon De Lara, Antoine Arnaud, et al.
European Journal of Medical Genetics|August 30, 2011
Systematic search for neutropenia should be part of the first screening in patients with poikilodermaJuliette Piard, Muriel Holder-Espinasse, Bernard Aral, et al.
Neuromuscular Disorders : NMD|July 6, 2011
Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathiesS Vuillaumier-Barrot, C Bouchet-Seraphin, M Chelbi, et al.
Brain : a Journal of Neurology|December 4, 2018
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephalyArtem Kim, Clara Savary, Christèle Dubourg, et al.
European Journal of Medical Genetics|June 10, 2009
Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated casesCaroline Schluth-Bolard, Bruno Delobel, Damien Sanlaville, et al.
Neuroimage. Clinical|December 1, 2018
Anatomical and functional abnormalities on MRI in kabuki syndromeJennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaître, et al.
Scientific Reports|March 22, 2019
Comparison of supine or prone crawl photon or proton breast and regional lymph node radiation therapy including the internal mammary chainBruno A Speleers, Francesca M Belosi, Werner R De Gersem, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 18, 2009
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutationsG Solé, I Coupry, C Rooryck, et al.
Human Mutation|November 14, 2008
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literatureBert L Callewaert, Bart L Loeys, Anna Ficcadenti, et al.
Pageof 24