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Bernard Aral

Showing results (21-30 of 34) with videos related to

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Journal of Molecular Medicine (Berlin, Germany)|March 8, 2019
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropeniaLaurence Duplomb, Julie Rivière, Gaëtan Jego, et al.
Human Molecular Genetics|December 17, 2013
Cohen syndrome is associated with major glycosylation defectsLaurence Duplomb, Sandrine Duvet, Damien Picot, et al.
Haematologica|January 26, 2023
Comprehensive <i>in silico</i> and functional studies for classification of <i>EPAS1/HIF2A</i> genetic variants identified in patients with erythrocytosisValéna Karaghiannis, Darko Maric, Céline Garrec, et al.
Journal of Medical Genetics|July 27, 2010
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndromeSalima El Chehadeh, Bernard Aral, Nadège Gigot, et al.
Human Genetics|November 2, 2013
C5orf42 is the major gene responsible for OFD syndrome type VIEstelle Lopez, Christel Thauvin-Robinet, Bruno Reversade, et al.
Nature Genetics|July 7, 2014
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongationChristel Thauvin-Robinet, Jaclyn S Lee, Estelle Lopez, et al.
Journal of Medical Genetics|June 14, 2012
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disabilityJulien Thevenon, Estelle Lopez, Boris Keren, et al.
Prenatal Diagnosis|March 11, 2015
Severe X-linked chondrodysplasia punctata in nine new female fetusesMathilde Lefebvre, Fabienne Dufernez, Ange-Line Bruel, et al.
American Journal of Human Genetics|October 30, 2012
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndromeVirginie Carmignac, Julien Thevenon, Lesley Adès, et al.
Haematologica|June 15, 2023
Characterization of genetic variants in the <i>EGLN1/PHD2</i> gene identified in a European collection of patients with erythrocytosisMarine Delamare, Amandine Le Roy, Mathilde Pacault, et al.
Pageof 4

Showing results (21-30 of 34) with videos related to

Sort By:
Pageof 4
Journal of Molecular Medicine (Berlin, Germany)|March 8, 2019
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropeniaLaurence Duplomb, Julie Rivière, Gaëtan Jego, et al.
Human Molecular Genetics|December 17, 2013
Cohen syndrome is associated with major glycosylation defectsLaurence Duplomb, Sandrine Duvet, Damien Picot, et al.
Haematologica|January 26, 2023
Comprehensive <i>in silico</i> and functional studies for classification of <i>EPAS1/HIF2A</i> genetic variants identified in patients with erythrocytosisValéna Karaghiannis, Darko Maric, Céline Garrec, et al.
Journal of Medical Genetics|July 27, 2010
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndromeSalima El Chehadeh, Bernard Aral, Nadège Gigot, et al.
Human Genetics|November 2, 2013
C5orf42 is the major gene responsible for OFD syndrome type VIEstelle Lopez, Christel Thauvin-Robinet, Bruno Reversade, et al.
Nature Genetics|July 7, 2014
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongationChristel Thauvin-Robinet, Jaclyn S Lee, Estelle Lopez, et al.
Journal of Medical Genetics|June 14, 2012
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disabilityJulien Thevenon, Estelle Lopez, Boris Keren, et al.
Prenatal Diagnosis|March 11, 2015
Severe X-linked chondrodysplasia punctata in nine new female fetusesMathilde Lefebvre, Fabienne Dufernez, Ange-Line Bruel, et al.
American Journal of Human Genetics|October 30, 2012
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndromeVirginie Carmignac, Julien Thevenon, Lesley Adès, et al.
Haematologica|June 15, 2023
Characterization of genetic variants in the <i>EGLN1/PHD2</i> gene identified in a European collection of patients with erythrocytosisMarine Delamare, Amandine Le Roy, Mathilde Pacault, et al.
Pageof 4