Results 111 to 120 of about 81,955,644 (156)

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System. [PDF]

Mol Genet Genomic Med
Carstens N, Mudau M, Essop F, Krause A.
europepmc   +1 more source

Coexistence of Neurofibromatosis Type 1 and Marfan Syndrome in a 13-Year-Old Boy: A Case Report. [PDF]

Am J Case Rep
Wieniawski P, Warych M, Kucińska B, Janiec I, Werner B.   +4 more
europepmc   +1 more source

Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approaches. [PDF]

EBioMedicine
Pang C, Chui MM, Tang W, Kwong AK, Leung HYC, Fan SS, Kwok AW, Chan GC, Luk HM, Wong RM, Yang W, Lo IF, Fung CW, Tung JY, Liu AP, Yeung KS, Wong SS, Mak CC, Chung BH.   +18 more
europepmc   +1 more source

Prime Editing-Based Functional Characterization Supports a Likely Pathogenic Interpretation of <i>NF1</i> c.6394T>C (p.Ser2132Pro). [PDF]

Genes (Basel)
Wu J, Li G, Liu S, Ma C, Wang X.
europepmc   +1 more source

Pheochromocytoma and primary hyperparathyroidism: a very rare association in a neurofibromatosis type 1 patient unmasked by Takotsubo syndrome. [PDF]

Endocrinol Diabetes Metab Case Rep
Faria N, Lopes V, Pereira T, Azevedo O, Lourenço A, Lages AS, Machado CM.   +6 more
europepmc   +1 more source

Rare diseases in the Turkish-Cypriot community: a nationwide study. [PDF]

J Community Genet
Koyutourk B, Ergoren MC.
europepmc   +1 more source

Identification of CD74-positive antigen presenting glioma cells in primary human tumors and murine models of NF1 high-grade glioma. [PDF]

Mol Cancer Ther
Brosius SN, Sussman JH, DiStefano IA, Grothusen GP, Natan KN, Seka I, Foltz S, Labella K, Bosse KR, Tan K, De Raedt T.   +10 more
europepmc   +1 more source

End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes. [PDF]

J Med Genet
Damen L, Broekema MF, Vogel MJ, Korpershoek E, Koudijs MJ, Boersma BR, Dreijerink KM, Zondervan PJ, Dubbink HJ, van Hest LP.   +9 more
europepmc   +1 more source

Benign and Malignant Peripheral Nerve Sheath Tumors of the Oral Cavity: Two-Case Series Emphasizing Diagnostic Challenges. [PDF]

Diagnostics (Basel)
Aleksiev E, Kosturkov D, Dikov T, Ivanova V, Mihaylova Z.   +4 more
europepmc   +1 more source

Personalized medicine strategy for MPNSTs: using precision oncology on PDOX models to inform tumor boards. [PDF]

J Transl Med
Ortega-Bertran S, Fernández-Rodríguez J, Magallón-Lorenz M, Creus-Bachiller E, Uriarte-Arrazola I, Mazuelas H, Garraus M, Carrió M, Gel B, Rovira C, Alvarez M, Villanueva A, Castaneda A, Salvador H, Serra E, Lázaro C.   +15 more
europepmc   +1 more source