Results 211 to 220 of about 31,418 (252)

Whole Exome Sequencing Reveals Novel Genetic Variants Associated with Atrial Septal Defect in a Tibetan Patient Cohort. [PDF]

Pharmgenomics Pers Med
Li H, He Y, Cai Z, Che Q, Wu Y, Zhou M, He Z, Zhao L.   +7 more
europepmc   +1 more source

mTOR signaling in skeletal development and disease [PDF]

, 2018
Chen, Jianquan, Long, Fanxin
core   +1 more source

The Role of mTOR Signaling in Tumor-Induced Alterations to Neuronal Function in Diffusely Infiltrating Glioma. [PDF]

Biomedicines
Haile H, Leskinen S, Adapa AR, R Goldberg A, Viswanathan A, Milligan C, Conboy K, Schevon C, Canoll P, Gill BJA.   +9 more
europepmc   +1 more source

Coexistence of Renal Cell Carcinoma and Psoriasis in Tuberous Sclerosis Complex: A Shared mTOR Pathway Pathogenesis? [PDF]

Clin Case Rep
Jaiswal S, Uprety S, Ranjan MK, Thapa P, Paudel B, Lamichhane P.   +5 more
europepmc   +1 more source

Identification of the TSC1 (tuberous sclerosis) gene

Biomedicine & Pharmacotherapy, 1998
openaire   +1 more source

Familial multiple discoid fibromas: clinical features and a brief overview of the literature. [PDF]

An Bras Dermatol
Gokyayla E, Gunduz K, Temiz P.
europepmc   +1 more source

Case - Genetic mosaicism of TSC2 gene in a patient with multifocal renal epithelioid angiomyolipomas. [PDF]

Can Urol Assoc J
Rathi N, Blachman-Braun R, Millan B, Vocke CD, Ricketts CJ, Gautam R, Reynolds K, Merino MJ, Linehan WM, Gurram S.   +9 more
europepmc   +1 more source

Renal cell carcinoma with fibromyomatous stroma (RCC FMS) and with hemangioblastoma-like areas is part of the RCC FMS spectrum in patients with tuberous sclerosis complex. [PDF]

Histopathology
Baranova K, Houpt JA, Arnold D, House AA, Lockau L, Ninivirta L, Pautler S, Chen H, Moussa M, Saleeb R, Gomez JA, Yilmaz A, Siadat F, Box A, Mahoney DJ, Zemp FJ, Gabril M, Trpkov K.   +17 more
europepmc   +1 more source

Diagnostic and predictive molecular biomarkers in brain tumors across the lifespan: an age-stratified consensus statement. [PDF]

J Neurooncol
Mastronuzzi A, Franceschi E, D'Antonio F, Bennicelli E, Berzero G, Cella E, Filippi M, Lanzetta G, Marchioni E, Milanaccio C, Simonelli M, Bini P, Silvani A, Pace A.   +13 more
europepmc   +1 more source

A programmed decline in ribosome levels governs human early neurodevelopment. [PDF]

Nat Cell Biol
Ni C, Wei Y, Vona B, Park D, Wei Y, Schmitz DA, Ding Y, Sakurai M, Ballard E, Li L, Liu Y, Kumar A, Xing C, Qin S, Kim S, Foglizzo M, Zhao J, Kim HG, Ekmekci C, Karimiani EG, Imannezhad S, Eghbal F, Badv RS, Schwaibold EMC, Dehghani M, Mehrjardi MYV, Metanat Z, Eslamiyeh H, Khouj E, Alhajj SMN, Chedrawi A, Ramzan K, Hashmi JA, Alluqmani MM, Basit S, Veltra D, Marinakis NM, Niotakis G, Vorgia P, Sofocleous C, Lee H, Jeong WC, Umair M, Bilal M, Alves CAPF, Sieber M, Kruer M, Houlden H, Alkuraya FS, Zeqiraj E, Greenberg RA, Cenik C, Yu L, Maroofian R, Wu J, Buszczak M.   +55 more
europepmc   +1 more source