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Jacques de Blic

Showing results (91-100 of 105) with videos related to

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American Journal of Human Genetics|December 1, 2009
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesiaPhilippe Duquesnoy, Estelle Escudier, Laetitia Vincensini, et al.
The European Respiratory Journal|September 10, 2021
Methionine supplementation for multi-organ dysfunction in MetRS-related pulmonary alveolar proteinosisAlice Hadchouel, David Drummond, Clément Pontoizeau, et al.
European Respiratory Review : an Official Journal of the European Respiratory Society|June 4, 2013
Small airways diseases, excluding asthma and COPD: an overviewPierre-Régis Burgel, Anne Bergeron, Jacques de Blic, et al.
American Journal of Human Genetics|November 6, 2012
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesiaEsther Kott, Philippe Duquesnoy, Bruno Copin, et al.
American Journal of Human Genetics|April 28, 2015
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion IslandAlice Hadchouel, Thomas Wieland, Matthias Griese, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|March 23, 2024
COBRAPed cohort: Do sensitization patterns differentiate children with severe asthma from those with a milder disease?Stéphanie Lejeune, Naïm Bouazza, Pascale Roland Nicaise, et al.
Orphanet Journal of Rare Diseases|January 7, 2017
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthoodWladimir Mauhin, Florence Habarou, Stéphanie Gobin, et al.
American Journal of Human Genetics|June 16, 2015
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial SpokesLudovic Jeanson, Bruno Copin, Jean-François Papon, et al.
Human Molecular Genetics|November 10, 2011
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in childrenFlorence Flamein, Laure Riffault, Céline Muselet-Charlier, et al.
Orphanet Journal of Rare Diseases|April 22, 2018
Pulmonary hemosiderosis in children with Down syndrome: a national experienceAurelia Alimi, Jessica Taytard, Rola Abou Taam, et al.
Pageof 11

Showing results (91-100 of 105) with videos related to

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Pageof 11
American Journal of Human Genetics|December 1, 2009
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesiaPhilippe Duquesnoy, Estelle Escudier, Laetitia Vincensini, et al.
The European Respiratory Journal|September 10, 2021
Methionine supplementation for multi-organ dysfunction in MetRS-related pulmonary alveolar proteinosisAlice Hadchouel, David Drummond, Clément Pontoizeau, et al.
European Respiratory Review : an Official Journal of the European Respiratory Society|June 4, 2013
Small airways diseases, excluding asthma and COPD: an overviewPierre-Régis Burgel, Anne Bergeron, Jacques de Blic, et al.
American Journal of Human Genetics|November 6, 2012
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesiaEsther Kott, Philippe Duquesnoy, Bruno Copin, et al.
American Journal of Human Genetics|April 28, 2015
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion IslandAlice Hadchouel, Thomas Wieland, Matthias Griese, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|March 23, 2024
COBRAPed cohort: Do sensitization patterns differentiate children with severe asthma from those with a milder disease?Stéphanie Lejeune, Naïm Bouazza, Pascale Roland Nicaise, et al.
Orphanet Journal of Rare Diseases|January 7, 2017
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthoodWladimir Mauhin, Florence Habarou, Stéphanie Gobin, et al.
American Journal of Human Genetics|June 16, 2015
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial SpokesLudovic Jeanson, Bruno Copin, Jean-François Papon, et al.
Human Molecular Genetics|November 10, 2011
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in childrenFlorence Flamein, Laure Riffault, Céline Muselet-Charlier, et al.
Orphanet Journal of Rare Diseases|April 22, 2018
Pulmonary hemosiderosis in children with Down syndrome: a national experienceAurelia Alimi, Jessica Taytard, Rola Abou Taam, et al.
Pageof 11