Results 101 to 110 of about 15,366 (199)

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

Multifocal Small Bowel Gastrointestinal Stromal Tumors and Concurrent Neuroendocrine Tumor in Neurofibromatosis Type 1. [PDF]

ACG Case Rep J
Thakkar B, Da Cunha T, Zanchelli P, Dharan M.   +3 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

Diagnoses of double heterozygous NF1 variants and dual RASopathy. [PDF]

Mol Cell Pediatr
Angelova-Toshkina D, Schanze D, Vaassen P, Frühwald MC, Rosenbaum T, Zenker M, Kuhlen M.   +6 more
europepmc   +1 more source

Immune landscape characterization of neurofibromas with atypical features in Neurofibromatosis1 reveals PD-1 and the Tim-3/Galectin-9 pathway as potential therapeutic targets. [PDF]

Acta Neuropathol Commun
Brunet A, Coulpier F, Onfroy A, Sako N, Radomska KJ, Aftimos V, Lacroix L, Briand-Suleau A, Maille P, Hermeziu O, Laurendeau I, Pasmant E, Wolkenstein P, Topilko P, Ortonne N.   +14 more
europepmc   +1 more source

Ossification of Mandibular Central Giant Cell Granuloma (CGCG) in Neurofibromatosis Type 1 Patients. [PDF]

Cancer Diagn Progn
Friedrich RE, Kohlrusch FK, Hagel C, Gosau M.   +3 more
europepmc   +1 more source

An Overview of Genetics of Moyamoya: Beyond <i>RNF213</i> Gene. [PDF]

Int J Mol Sci
Sorte G, Cantone M, Bella R, Salemi M, Zedde M, Zappia M.   +5 more
europepmc   +1 more source

Induced pluripotent stem cell-derived models of malignant nerve sheath tumor progression mimic glial to neuro-mesenchymal transition and uncover therapeutic opportunities. [PDF]

Nat Commun
Uriarte-Arrazola I, Magallón-Lorenz M, Fernández-Rodríguez J, Zhang J, Lee E, Ortega-Bertran S, Creus-Bachiller E, Farrés-Casas J, Wilson KM, McKnight C, Recabo K, Blanco I, Salvador H, Romagosa C, Lázaro C, Mazuelas H, Gel B, Ferrer M, Carrió M, Serra E.   +19 more
europepmc   +1 more source

Report of Concomitant Intracranial Cysts in Unrelated Patients With Heterozygous Germline <i>NF1</i> Pathogenic Variants. [PDF]

Ann Intern Med Clin Cases
Harahsheh EY, Merritt E, Tejon JB, Olarewaju BA, Asif MB, Babovic-Vuksanovic D, Osundiji MA.   +6 more
europepmc   +1 more source

Gene therapy and Immunotherapy in Neurofibromatosis 1

Brain and Spine
Dmitriy Labunskiy, Svetlana Kiryukhina, Mikhail Chepoy, Elizaveta Gavrilenko, Yulia Strelchenko   +4 more
openaire   +1 more source