Concepedia

Sylvain Blanchon

SB

17

Publications

717

Citations

14

H-Index

2008

Active since

Affiliations

Assistance Publique – Hôpitaux de Paris(Current)

Inserm

Sorbonne Université

Hôpital Armand-Trousseau

Maladies génétiques d’expression pédiatrique

Sylvain Blanchon is an author at Assistance Publique – Hôpitaux de Paris specializing in medicine, pediatrics, and asthma.

ORCID

Top concepts

Publications per year

2008–2021

17

Publications

17

Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

Elma El Khouri, Lucie Thomas, Ludovic Jeanson et al. · The American Journal of Human Genetics · 2016 · 101 citations · Full text

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Delineation of <i>CCDC39/CCDC40</i> mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Sylvain Blanchon, Marie Legendre, Bruno Copin et al. · Journal of Medical Genetics · 2012 · 90 citations

Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study

Jean‐François Papon, Laurence Bassinet, Gwenaëlle Cariou-Patron et al. · Orphanet Journal of Rare Diseases · 2012 · 82 citations · Full text

Longitudinal lung function and structural changes in children with primary ciliary dyskinesia

Marie Lémery Magnin, Pierrick Cros, Nicole Beydon et al. · Pediatric Pulmonology · 2012 · 73 citations

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Marie Legendre, Sylvain Blanchon, Bruno Copin et al. · Cilia · 2012 · 71 citations · Full text

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