Results 201 to 210 of about 47,155 (269)

Functional Characterization of <i>HGD</i> Gene Variants by Minigene Splicing Assay. [PDF]

Int J Mol Sci
Nekrasov A, Shchukina E, Rimskaya B, Zakharova E.   +3 more
europepmc   +1 more source

Evaluation globale du PM2.Vert

, 2014
Brunet, Sébastien, Lefèvre, Martine, vanderkelen, Françoise   +2 more
openaire   +1 more source

Molecular characterization of hereditary breast and ovarian cancer patients from a public precision medicine service in the Southeast Brazilian population. [PDF]

Sci Rep
Ribeiro AAF, Queiroz Ladeira T, Gonçalves Antunes MV, Pereira Neto C, Chaves de Freitas F, Castro de Faria F, de Oliveira Lopes D, Tarazona-Santos E, Lara Dos Santos L.   +8 more
europepmc   +1 more source

Genotype and phenotype correlation analysis in 27 families with multiple osteochondroma and validation by ATDC5 chondrocyte models. [PDF]

Bone Joint Res
Guo X, Lin M, Xu S, Liu B, Zhang R, Liu S, Pan Y.   +6 more
europepmc   +1 more source

An Integrated Predictive Impact-Enhanced Process Mining Framework for Strategic Oncology Workflow Optimization: Case Study in Iran. [PDF]

Bioengineering (Basel)
Salehi M, Khayami R, Akbari R, Mirmozaffari M.   +3 more
europepmc   +1 more source

Clinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study. [PDF]

BMC Musculoskelet Disord
Deng J, Wang N, Wu Y, Hao Z, Wu H, Ma S, Liu J, Ji G, Song X.   +8 more
europepmc   +1 more source

Genetic screening in kidney transplant candidates. [PDF]

Clin Kidney J
Le Moal P, Knebelmann B, Hummel A, Gribouval O, Anglicheau D, Legendre C, Morinière V, Heidet L, Dorval G, Antignac C, Servais A.   +10 more
europepmc   +1 more source

Clinical features of early-onset high myopia in Chinese children: attention to comorbidities. [PDF]

BMC Ophthalmol
Ding Y, Xie F, Zhang J, Jiang M, Wang T, Wan X.   +5 more
europepmc   +1 more source

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome. [PDF]

Eur J Pediatr
Ge Y, Zhang XY, Han X, Zhang JT, Ma WM, Yang HC, Cao HQ, Lan WY, Dong W, Hu Y, Yang YL, Sun ZS, Shen M.   +12 more
europepmc   +1 more source

Applicability of Electroretinography Measurements in Congenital PAX6-Related Aniridia. [PDF]

Invest Ophthalmol Vis Sci
Zobor D, Knézy K, Besztercei B, Szigeti A, Csidey M, Kormányos K, Élo Á, Náray A, Szabó D, Nagy ZZ, Jávorszky E, Corton M, Maka E, Tory K, Barboni M, Szentmáry N.   +15 more
europepmc   +1 more source