Results 151 to 160 of about 13,128 (181)

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling. [PDF]

Hum Reprod
Vernimmen V, De Rycke M, Moutou C, Dreesen J, Blok MJ, van Minkelen R, Lauer-Zillhardt J, Verdyck P, Keymolen K, van Uum C, Homminga I, Brandts L, Stumpel CTRM, Coonen E, Heijligers M, van Zelst-Stams W, Zamani Esteki M, van den Wijngaard A, de Die-Smulders CEM, Paulussen ADC.   +19 more
europepmc   +1 more source

Ten common mistakes that could ruin your enrichment analysis. [PDF]

PLoS Comput Biol
Bora A, McKenzie M, Ziemann M.
europepmc   +1 more source

Hepatic perivascular epithelioid cell tumor: A rare mesenchymal tumor with epithelioid features: A case report. [PDF]

Exp Ther Med
Abbas M, Strücker B, Morgül MH, Pascher A, Hartmann W, Wardelmann E.   +5 more
europepmc   +1 more source

Innovative In Vivo Imaging and Single Cell Expression from Tumor Bulk and Corpus Callosum Reveal Glioma Stem Cells with Unique Regulatory Programs. [PDF]

Cancers (Basel)
Dos Santos N, Aquino A, Preußer F, Rusak FR, Jandrey EHF, Uno M, Furuya TK, Lancellotti CLP, Maldaun MVC, Chammas R, Preibisch S, Camargo AA, Masotti C, Costa ET.   +13 more
europepmc   +1 more source

GeneFamily: a comprehensive mammalian gene family database with extensive annotation and interactive visualization. [PDF]

Nucleic Acids Res
Wang Y, Zhang Y, Wang X, Ng YK, Jia Y, Zhao Z, Liu J, Yang S, Shen B, Li SC.   +9 more
europepmc   +1 more source

connectomeDB2025: a rigorously curated, multi-species resource of experimentally supported ligand-receptor interactions. [PDF]

Nucleic Acids Res
Liu P, Maezono SEB, Lin W, Yeow Y, Liu YY, Hisham Y, Hou R, Ramilowski JA, Forrest ARR.   +8 more
europepmc   +1 more source

Enhanced detection and characterization of germline structural variants in cancer predisposition genes via genome sequencing. [PDF]

Genet Med Open
Kargaran PK, Ding Q, Choate LA, Sellers HL, Stein MI, Moyers BA, Basu S, Tandale PP, Setlem R, Bishop MF, Holdren MA, Urban RM, Gupta S, Shen W.   +13 more
europepmc   +1 more source

Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand. [PDF]

Genet Med Open
Fluhler H, Granger E, Sharp M, Harris C, McKinley M, Riyat S, Krieg C, Deans A, Fraser C, Cross S, Carter T, Worgan L, Nelson A, Fox LC, Nicholl J, Attwood A, McLeman L, Hughes D, Conyers R, Kujan O, Velleuer-Carlberg E, Nandini A, Crismani W.   +22 more
europepmc   +1 more source

A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort. [PDF]

Eur J Hum Genet
Ratnaike TE, Kule ME, Paramonov I, Matalonga L, Polavarapu K, Olimpio C, Horváth R.   +6 more
europepmc   +1 more source

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases. [PDF]

Genet Med Open
Torella A, Morleo M, Spampanato C, Castello R, Zanobio M, Piluso G, Di Letto P, Onore ME, Rahman SI, Musacchia F, Pinelli M, Vitiello G, De Riso G, Selicorni A, Mariani M, Daolio C, Capra V, Scala M, Nardecchia F, Galosi S, Mastrangelo M, Manti F, Milani D, Romano C, Greco D, Ciaccio C, D'Arrigo S, De Laurentiis A, Coppola A, Zollino M, Pasquetti D, L'Erario FF, Tummolo A, Santoro C, Garavelli L, Marini C, Bigoni S, Tirozzi A, Cetrangolo V, Parenti G, Di Bernardo D, Peron A, Maitz S, Accogli A, Cappuccio G, Banfi S, Casari G, Ballabio A, Brunetti-Pierri N, Nigro V, Telethon Undiagnosed Disease Study group.   +50 more
europepmc   +1 more source