Concepedia
Statistics
Publications
3
Citations
111
H-Index
Active since
2013
Affiliations
Institut de Biologie de Lille(Current)
Hôpital Jeanne de Flandre
Guy's Hospital
Université Lille Nord de France
A.‐S. Jourdain is an author at Institut de Biologie de Lille specializing in genetics, medicine, and pathology.
Top concepts
GeneticsMedicinePathologyAllergyOrthopedicsOsteoporosisPathogenesisAutoimmune DiseaseClinical DisordersGenetic Epidemiology
Publications per year
2013–2014
Nager syndrome: confirmation of <i><scp>SF3B4</scp></i> haploinsufficiency as the major cause
Florence Petit, Fabienne Escande, A.‐S. Jourdain et al. · Clinical Genetics · 2013 · 74 citations
Clinical Disorders, Sclerostin, Mendelian Disorder +14
Split hand/foot malformation with long‐bone deficiency and <i><scp>BHLHA9</scp></i> duplication: report of 13 new families
Florence Petit, A.‐S. Jourdain, Joris Andrieux et al. · Clinical Genetics · 2013 · 26 citations
Thumb Hypoplasia, Mendelian Disorder, New Families +11
Intrafamilial variability of <i><scp>ZRS</scp></i>‐associated syndrome: characterization of a mosaic <i><scp>ZRS</scp></i> mutation by pyrosequencing
Clémence Vanlerberghe, Laurence Faivre, Florence Petit et al. · Clinical Genetics · 2014 · 11 citations
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