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Nicolas Chassaing

Showing results (91-100 of 101) with videos related to

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Frontiers in Genetics|May 26, 2026
Evaluation of the contribution of trio-exome sequencing in selected prenatal indicationsManon Chretien, Julien Osouf, Carine Abel, et al.
Human Mutation|November 1, 2020
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxyHui Liu, Anna-Gaëlle Giguet-Valard, Thomas Simonet, et al.
European Journal of Human Genetics : EJHG|December 3, 2015
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotypeMouna Barat-Houari, Bruno Dumont, Aurélie Fabre, et al.
European Journal of Human Genetics : EJHG|July 24, 2014
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 casesAlain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, et al.
Human Mutation|November 19, 2011
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesisOlivier Gribouval, Vincent Morinière, Audrey Pawtowski, et al.
Epilepsia|May 27, 2020
Lessons learned from 40 novel PIGA patients and a review of the literatureAllan Bayat, Alexej Knaus, Manuela Pendziwiat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor betaVéronique Caron, Nicolas Chassaing, Nicola Ragge, et al.
Clinical Genetics|August 14, 2023
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendationsLaurence Faivre, Jean-Charles Crépin, Manon Réda, et al.
American Journal of Human Genetics|January 15, 2019
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF PathwayJustyna A Karolak, Marie Vincent, Gail Deutsch, et al.
Human Mutation|March 19, 2013
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domainPartha Sen, Yaping Yang, Colby Navarro, et al.
Pageof 11

Showing results (91-100 of 101) with videos related to

Sort By:
Pageof 11
Frontiers in Genetics|May 26, 2026
Evaluation of the contribution of trio-exome sequencing in selected prenatal indicationsManon Chretien, Julien Osouf, Carine Abel, et al.
Human Mutation|November 1, 2020
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxyHui Liu, Anna-Gaëlle Giguet-Valard, Thomas Simonet, et al.
European Journal of Human Genetics : EJHG|December 3, 2015
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotypeMouna Barat-Houari, Bruno Dumont, Aurélie Fabre, et al.
European Journal of Human Genetics : EJHG|July 24, 2014
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 casesAlain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, et al.
Human Mutation|November 19, 2011
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesisOlivier Gribouval, Vincent Morinière, Audrey Pawtowski, et al.
Epilepsia|May 27, 2020
Lessons learned from 40 novel PIGA patients and a review of the literatureAllan Bayat, Alexej Knaus, Manuela Pendziwiat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor betaVéronique Caron, Nicolas Chassaing, Nicola Ragge, et al.
Clinical Genetics|August 14, 2023
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendationsLaurence Faivre, Jean-Charles Crépin, Manon Réda, et al.
American Journal of Human Genetics|January 15, 2019
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF PathwayJustyna A Karolak, Marie Vincent, Gail Deutsch, et al.
Human Mutation|March 19, 2013
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domainPartha Sen, Yaping Yang, Colby Navarro, et al.
Pageof 11