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Jean Muller

Showing results (81-90 of 103) with videos related to

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Investigative Ophthalmology & Visual Science|December 23, 2021
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10Monika K Grudzinska Pechhacker, Samuel G Jacobson, Arlene V Drack, et al.
Clinical Genetics|November 10, 2020
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndromeClarisse Delvallée, Samuel Nicaise, Manuela Antin, et al.
EMBO Molecular Medicine|June 6, 2020
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stressAriane Kröll-Hermi, Frédéric Ebstein, Corinne Stoetzel, et al.
Orphanet Journal of Rare Diseases|March 24, 2016
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencingNadège Calmels, Géraldine Greff, Cathy Obringer, et al.
Journal of Human Genetics|October 10, 2014
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in TurkeyAyşegül Ozantürk, Jan D Marshall, Gayle B Collin, et al.
Human Genetics|February 24, 2010
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous diseaseJean Muller, C Stoetzel, M C Vincent, et al.
European Journal of Human Genetics : EJHG|July 31, 2024
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendationsHélène Dollfus, Marc R Lilien, Pietro Maffei, et al.
Journal of Human Genetics|January 27, 2015
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in TurkeyAyşegül Ozantürk, Jan D Marshall, Gayle B Collin, et al.
Clinical Genetics|January 8, 2019
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genesLaura Mary, Kirsley Chennen, Corinne Stoetzel, et al.
European Journal of Human Genetics : EJHG|February 9, 2017
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndromeAngélique Quartier, Hélène Poquet, Brigitte Gilbert-Dussardier, et al.
Pageof 11

Showing results (81-90 of 103) with videos related to

Sort By:
Pageof 11
Investigative Ophthalmology & Visual Science|December 23, 2021
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10Monika K Grudzinska Pechhacker, Samuel G Jacobson, Arlene V Drack, et al.
Clinical Genetics|November 10, 2020
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndromeClarisse Delvallée, Samuel Nicaise, Manuela Antin, et al.
EMBO Molecular Medicine|June 6, 2020
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stressAriane Kröll-Hermi, Frédéric Ebstein, Corinne Stoetzel, et al.
Orphanet Journal of Rare Diseases|March 24, 2016
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencingNadège Calmels, Géraldine Greff, Cathy Obringer, et al.
Journal of Human Genetics|October 10, 2014
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in TurkeyAyşegül Ozantürk, Jan D Marshall, Gayle B Collin, et al.
Human Genetics|February 24, 2010
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous diseaseJean Muller, C Stoetzel, M C Vincent, et al.
European Journal of Human Genetics : EJHG|July 31, 2024
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendationsHélène Dollfus, Marc R Lilien, Pietro Maffei, et al.
Journal of Human Genetics|January 27, 2015
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in TurkeyAyşegül Ozantürk, Jan D Marshall, Gayle B Collin, et al.
Clinical Genetics|January 8, 2019
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genesLaura Mary, Kirsley Chennen, Corinne Stoetzel, et al.
European Journal of Human Genetics : EJHG|February 9, 2017
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndromeAngélique Quartier, Hélène Poquet, Brigitte Gilbert-Dussardier, et al.
Pageof 11