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Jean Muller

Showing results (61-70 of 103) with videos related to

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Journal of Medical Genetics|July 10, 2012
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromesClaire Redin, Stéphanie Le Gras, Oussema Mhamdi, et al.
American Journal of Ophthalmology|May 19, 2015
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl SyndromeSophie Scheidecker, Sarah Hull, Yaumara Perdomo, et al.
Structure (London, England : 1993)|July 16, 2019
The Molecular Architecture of Native BBSome Obtained by an Integrated Structural ApproachHui-Ting Chou, Luise Apelt, Daniel P Farrell, et al.
American Journal of Respiratory Cell and Molecular Biology|April 19, 2018
PLCB3 Loss of Function Reduces Pseudomonas aeruginosa-Dependent IL-8 Release in Cystic FibrosisAlessandro Rimessi, Valentino Bezzerri, Francesca Salvatori, et al.
Medecine Sciences : M/S|October 25, 2024
[Interpretation of results from high-throughput sequencing for genetic diseases: implementation of national homogenization in France]Svetlana Gorokhova, Cécile Rouzier, Cécile Acquaviva-Bourdain, et al.
JAMA Neurology|August 5, 2014
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation studyMathilde Renaud, Mathieu Anheim, Erik-Jan Kamsteeg, et al.
Brain : a Journal of Neurology|February 10, 2026
No role of intronic expansions in HSF1 for essential tremor in EuropeJean-Loup Méreaux, Thomas Wirth, Claire-Sophie Davoine, et al.
Journal of Assisted Reproduction and Genetics|April 13, 2017
A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish familyOzlem Okutman, Jean Muller, Valerie Skory, et al.
International Journal of Molecular Sciences|May 27, 2023
WGS Revealed Novel <i>BBS5</i> Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function DefectsAdella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, et al.
International Journal of Molecular Sciences|July 2, 2021
Novel <i>TTLL5</i> Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal DystrophyVasily Smirnov, Olivier Grunewald, Jean Muller, et al.
Pageof 11

Showing results (61-70 of 103) with videos related to

Sort By:
Pageof 11
Journal of Medical Genetics|July 10, 2012
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromesClaire Redin, Stéphanie Le Gras, Oussema Mhamdi, et al.
American Journal of Ophthalmology|May 19, 2015
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl SyndromeSophie Scheidecker, Sarah Hull, Yaumara Perdomo, et al.
Structure (London, England : 1993)|July 16, 2019
The Molecular Architecture of Native BBSome Obtained by an Integrated Structural ApproachHui-Ting Chou, Luise Apelt, Daniel P Farrell, et al.
American Journal of Respiratory Cell and Molecular Biology|April 19, 2018
PLCB3 Loss of Function Reduces Pseudomonas aeruginosa-Dependent IL-8 Release in Cystic FibrosisAlessandro Rimessi, Valentino Bezzerri, Francesca Salvatori, et al.
Medecine Sciences : M/S|October 25, 2024
[Interpretation of results from high-throughput sequencing for genetic diseases: implementation of national homogenization in France]Svetlana Gorokhova, Cécile Rouzier, Cécile Acquaviva-Bourdain, et al.
JAMA Neurology|August 5, 2014
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation studyMathilde Renaud, Mathieu Anheim, Erik-Jan Kamsteeg, et al.
Brain : a Journal of Neurology|February 10, 2026
No role of intronic expansions in HSF1 for essential tremor in EuropeJean-Loup Méreaux, Thomas Wirth, Claire-Sophie Davoine, et al.
Journal of Assisted Reproduction and Genetics|April 13, 2017
A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish familyOzlem Okutman, Jean Muller, Valerie Skory, et al.
International Journal of Molecular Sciences|May 27, 2023
WGS Revealed Novel <i>BBS5</i> Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function DefectsAdella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, et al.
International Journal of Molecular Sciences|July 2, 2021
Novel <i>TTLL5</i> Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal DystrophyVasily Smirnov, Olivier Grunewald, Jean Muller, et al.
Pageof 11