Results 81 to 90 of about 15,804 (118)

[XXVI^th News of the Pharo. Sexual and reproductive health in the South. 6-8 October 2021, Marseille, France]. [PDF]

Med Trop Sante Int, 2021
Comité d'organisation: GISPE (Groupe d'intervention en santé publique et épidémiologie).
europepmc   +1 more source

Evaluation externe du programme économie des filières (ECOFIL) du 15 mars au 30 mars 1997 [PDF]

, 1997
Coulibaly, Mantalla, Diarra, Daouda, Le Masson, Alain, Mariko Fadima Siby,   +3 more
core  

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability. [PDF]

J Med Genet
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A, UK Inherited Retinal Disease Consortium, Genomics England Research Consortium.   +19 more
europepmc   +1 more source

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta. [PDF]

Front Genet, 2019
Laugel-Haushalter V, Bär S, Schaefer E, Stoetzel C, Geoffroy V, Alembik Y, Kharouf N, Huckert M, Hamm P, Hemmerlé J, Manière MC, Friant S, Dollfus H, Bloch-Zupan A.   +13 more
europepmc   +1 more source

Rare dentin defects: Understanding the pathophysiological mechanisms of COLXVA1 mutations. [PDF]

Genes Dis
Bugueno IM, Rey T, Jimenez-Armijo A, Kawczynski M, Kharouf N, Manière MC, Herault Y, Bloch-Zupan A, Haushalter-Laugel V.   +8 more
europepmc   +1 more source

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress. [PDF]

EMBO Mol Med, 2020
Kröll-Hermi A, Ebstein F, Stoetzel C, Geoffroy V, Schaefer E, Scheidecker S, Bär S, Takamiya M, Kawakami K, Zieba BA, Studer F, Pelletier V, Eyermann C, Speeg-Schatz C, Laugel V, Lipsker D, Sandron F, McGinn S, Boland A, Deleuze JF, Kuhn L, Chicher J, Hammann P, Friant S, Etard C, Krüger E, Muller J, Strähle U, Dollfus H.   +28 more
europepmc   +1 more source

Ripply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome models. [PDF]

PLoS Genet
Ahumada Saavedra JT, Chevalier C, Bloch Zupan A, Herault Y.   +3 more
europepmc   +1 more source

Analyse technico-économique de la filière amont de production d'essence de girofle à Fénérive-Est, Madagascar : de la feuille à l'alambic [PDF]

, 2014
Danthu, Pascal, Jahiel, Michel, Penot, Eric, Simanjuntak, Radios   +3 more
core  

Biologics prescription for chronic inflammatory rheumatic diseases in Tunisia. [PDF]

Tunis Med
Zrour S, Dridi A, Grassa R, Ben Chekaya N, Bejia I.   +4 more
europepmc   +1 more source