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Nicolas Chassaing

Showing results (81-90 of 101) with videos related to

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American Journal of Human Genetics|January 3, 2012
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, et al.
Human Genetics|February 22, 2018
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomaliesFabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, et al.
Journal of Human Genetics|May 20, 2016
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrumSébastien Moutton, Patricia Fergelot, Sophie Naudion, et al.
Genome Medicine|January 10, 2018
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysisAlexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, et al.
Human Mutation|March 25, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethalityDorothea Bornholdt, Frank Oeffner, Arne König, et al.
American Journal of Human Genetics|August 13, 2019
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit AnomaliesRichard J Holt, Rodrigo M Young, Berta Crespo, et al.
Clinical Genetics|January 8, 2021
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trialsAurore Garde, Laurent Guibaud, Alice Goldenberg, et al.
Clinical Genetics|February 16, 2022
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patientsBertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, et al.
Nature Genetics|February 28, 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeJean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, et al.
Journal of Medical Genetics|July 29, 2021
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrumClara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, et al.
Pageof 11

Showing results (81-90 of 101) with videos related to

Sort By:
Pageof 11
American Journal of Human Genetics|January 3, 2012
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, et al.
Human Genetics|February 22, 2018
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomaliesFabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, et al.
Journal of Human Genetics|May 20, 2016
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrumSébastien Moutton, Patricia Fergelot, Sophie Naudion, et al.
Genome Medicine|January 10, 2018
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysisAlexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, et al.
Human Mutation|March 25, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethalityDorothea Bornholdt, Frank Oeffner, Arne König, et al.
American Journal of Human Genetics|August 13, 2019
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit AnomaliesRichard J Holt, Rodrigo M Young, Berta Crespo, et al.
Clinical Genetics|January 8, 2021
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trialsAurore Garde, Laurent Guibaud, Alice Goldenberg, et al.
Clinical Genetics|February 16, 2022
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patientsBertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, et al.
Nature Genetics|February 28, 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeJean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, et al.
Journal of Medical Genetics|July 29, 2021
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrumClara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, et al.
Pageof 11