Results 141 to 150 of about 9,210 (209)

2023 in the European Journal of Human Genetics. [PDF]

Eur J Hum Genet
McNeill A.
europepmc   +1 more source

[Pulmonary hemosiderosis revealing class II HLA deficiency in a 9-month-old infant: a case report]. [PDF]

Pan Afr Med J
Beddi LH, Hassani A, Elhasbaoui B, Radi A, Ourrai A, Abilkassem R, Aomar A.   +6 more
europepmc   +1 more source

<i>PFMG2025</i>-integrating genomic medicine into the national healthcare system in France. [PDF]

Lancet Reg Health Eur
PFMG2025 contributors.
europepmc   +1 more source

Cultural Influences on Name Agreement: A Set of 237 Standardized Photographs of French Speakers in Quebec and France. [PDF]

J Cogn
Lefebvre E, Turcotte R, Ferrand L, Durand E.   +3 more
europepmc   +1 more source

Identification of a novel homozygous <i>SLC13A5</i> nonstop mutation in a Chinese family with epileptic encephalopathy and developmental delay. [PDF]

Front Genet
He H, Long L, Tang M, Xu Q, Duan S, Chen G, Zhao Y, Wu Q, Chen J.   +8 more
europepmc   +1 more source

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish. [PDF]

Hum Mol Genet
Derrick CJ, Szenker-Ravi E, Santos-Ledo A, Alqahtani A, Yusof A, Eley L, Coleman AHL, Tohari S, Ng AY, Venkatesh B, Alharby E, Mansard L, Bonnet-Dupeyron MN, Roux AF, Vaché C, Roume J, Bouvagnet P, Almontashiri NAM, Henderson DJ, Reversade B, Chaudhry B.   +20 more
europepmc   +1 more source

Synthesis and biological evaluation of <i>N</i>/<i>O</i>-propargylated diarylpyrimidines as dual inhibitors of acetylcholinesterase and monoamine oxidase. [PDF]

RSC Adv
Kumar N, Jangid K, Kumar V, Dwivedi AR, Kumar V, Devi B, Arora T, Parkash J, Kumar V.   +8 more
europepmc   +1 more source

A Skull of <i>Metriorhynchus palpebrosus</i> in the Kimmeridgian of Normandy (Northwest France) and the Status of the Genus Metriorhynchus: The End of the Mystery? [PDF]

Life (Basel)
Hua S, Tabouelle J.
europepmc   +1 more source