Results 71 to 80 of about 9,068 (100)

Evaluation of GFAP, UCH-L1 and S100B Blood Biomarkers for the Management of Sports-Related Concussion in Professional Rugby Players: A Prospective Observational Study. [PDF]

Sports Med Open
Oris C, Gaulmin R, Durif J, Goddelière V, Pereira B, Bouvier D, Sapin V.   +6 more
europepmc   +1 more source

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome. [PDF]

Am J Hum Genet
Anderson KJ, Thorolfsdottir ET, Nodelman IM, Halldorsdottir ST, Benonisdottir S, Alghamdi MA, Almontashiri NAM, Barry BJ, Begemann M, Britton JF, Burke S, Cogne B, Cohen ASA, de Diego Boguñá C, Eichler EE, Engle EC, Fahrner JA, Faivre L, Fradin M, Fuhrmann N, Gao CW, Garg G, Grečmalová D, Grippa M, Harris JR, Hoekzema K, Hershkovitz T, Hubbard S, Janssens K, Jurgens JA, Kmoch S, Knopp C, Koptagel MA, Ladha FA, Lapunzina P, Lindau T, Meuwissen M, Minicucci A, Neuhaus E, Nizon M, Nosková L, Park K, Patel C, Pfundt R, Prasun P, Rahner N, Robin NH, Ronspies C, Roohi J, Rosenfeld J, Saenz M, Saunders C, Stark Z, Thiffault I, Thull S, Velasco D, Velmans C, Verseput J, Vitobello A, Wang T, Weiss K, Wentzensen IM, Pilarowski G, Eysteinsson T, Gillentine M, Stefánsson K, Helgason A, Bowman GD, Bjornsson HT.   +68 more
europepmc   +1 more source

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort. [PDF]

Clin Genet
Aubert Mucca M, Brunelle P, Doco Fenzy M, Vanlerberghe C, Dieux A, Feyereisen L, Jobic F, Lode L, Le Guyader G, Petit F, Schaefer E, Zaafrane-Khachnaoui K, Ziegler A, Patat O.   +13 more
europepmc   +1 more source

Decipher RNA isoform combinations from minigene splicing assays and massive parallel sequencing with MAGIC. [PDF]

Bioinformatics
Aucouturier C, Goardon N, Castéra L, Atkinson A, Lavolé T, Legros A, Ricou A, Boulouard F, Krieger S, Leman R.   +9 more
europepmc   +1 more source

TDG orchestrates ATF4-dependent gene transcription during retinoic acid-induced cell fate acquisition. [PDF]

Nucleic Acids Res
Turpin M, Madigou T, Bizot M, Acker R, Avner S, Benot G, Braud M, Fourgeux C, Palierne G, Poschmann J, Sawvell K, Watrin E, Péron CL, Salbert G.   +13 more
europepmc   +1 more source

Identification of a novel NSD1 pathogenic variant in a Senegalese child with Sotos syndrome. [PDF]

J Genet Eng Biotechnol
Diop JPD, Mbaye A, Diallo K, Pasmant E, Ba SA, Sene A, Videau M, Ndiaye Diallo R.   +7 more
europepmc   +1 more source

A comprehensive review for defining cut-off values of oocyte, zygote, and embryo maturation arrest (OZEMA) due to maternal-effect genes: towards the establishment of clinical criteria. [PDF]

Hum Reprod
Van Der Kelen A, Okutman Ö, Serdarogullari M, Dequeker BJH, Javey E, Capalbo A, Lang C, Kakourou G, Konstantinou E, Mulas F, Sermon K, Verpoest W, Viville S.   +12 more
europepmc   +1 more source

Fibronectin-gelatin nanofilm coating improves dental pulp stem cell survival and differentiation in odontogenesis-mimicking organotypic 3D bilayered constructs. [PDF]

Front Dent Med
Jimenez-Armijo A, Bugueno IM, Jerbaka F, Suss E, Caravello G, Kawczynski M, Arntz Y, Bloch-Zupan A, Gribova V.   +8 more
europepmc   +1 more source

Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features. [PDF]

Eur J Hum Genet
Thauvin-Robinet C, Garde A, Favier M, Delanne J, Racine C, Rousseau T, Nambot S, Bruel AL, Moutton S, Quelin C, Colson C, Brehin AC, Guerrot AM, Rooryck C, Putoux A, Blanchet P, Odent S, Schaefer E, Boute O, Goldenberg A, Guichet A, Abel C, Morel G, Fradin M, Isidor B, Vincent M, Francannet C, Vera G, Petit F, Nizon M, Wells C, Jeanne M, Deiller C, Ziegler A, Godin M, Saugier-Veber P, Cassinari K, Blanc P, Simon E, Binquet C, Duffourd Y, Safraou H, Denomme-Pichon AS, Vitobello A, Philippe C, Faivre L, Tran-Mau-Them F, Bourgon N.   +47 more
europepmc   +1 more source

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy. [PDF]

HGG Adv
Marquez J, Rouxel F, It FE, Couturier V, Duplomb L, Bourgeois V, Briffaut AS, Bruel AL, Chevarin M, Ganne B, Ng BG, Viviano S, Hektor MPN, Pasha RA, Gatinois V, Larrieu-Arguille C, Faure JM, Prodhomme O, Colmard M, Rivier F, Yukimune O, Poe C, Rouvet I, Vitobello A, Thauvin C, Rodriguez-Gomez GD, Tolusso LK, Katata Y, Kikuchi A, Hoffman TL, Andersson HC, Deniz E, He M, Wells CF, Denommé-Pichon AS, Edmondson AC, Freeze HH, Lam C.   +37 more
europepmc   +1 more source