Results 151 to 160 of about 30,899,307 (191)

Molecular Advances in Juvenile Myelomonocytic Leukemia and Associated RASopathy. [PDF]

Cancers (Basel)
Monika F, Abu Mehsen S, Zhang L.
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

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

Genetic insights into autism spectrum disorder with intellectual disability: a regional population-based study from Northwest China. [PDF]

Front Pediatr
Dai Y, Yao R, Du T, Wang X, Dou N, Zhang F, Liu L.   +6 more
europepmc   +1 more source

The impact of international care networks on the clinical management of constitutional mismatch repair deficiency (CMMRD): a review of recent developments. [PDF]

Fam Cancer
Vasen HFA, Wimmer K, van Kouwen M, Guerrini-Rousseau L, Gattini D, Stengs L, Tabori U, Colas C, Das A.   +8 more
europepmc   +1 more source

Schwannoma Arising from the Deep Peroneal Nerve: A Case Report. [PDF]

J Orthop Case Rep
Jalan D, Jha AK, Singh DK, Khanna G, Gupta V.   +4 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

Exome-based cancer driver gene comprehensive testing can provide a genetic diagnosis for individuals with triple-negative breast cancer. [PDF]

PLoS One
Alzate D, Sánchez AY, Pacheco Y, Isaza Ruget M, Sánchez R, Castillo C, Parra-López CA.   +6 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

<i>NF2</i> lacking exon 11 induced by antisense gene therapy is able to partially recover merlin deficiency in <i>NF2</i>-SWN iPSC-derived spheroid model. [PDF]

Mol Ther Nucleic Acids
Casals-Sendra G, Jarne-Sanz I, Catasús N, Boluda-Luis I, Quer A, Amilibia E, Plotkin SR, Lázaro C, Serra E, Blanco I, Castellanos E, NF-SWN Spanish Reference Center (CSUR on Phakomatosis).   +11 more
europepmc   +1 more source