Results 121 to 130 of about 81,955,644 (156)

Stratified obstetric management for heterogeneous rare diseases: a precision medicine framework based on four genetic archetypes. [PDF]

Front Med (Lausanne)
Lv S, Yang H, Cui Y, Yang H.
europepmc   +1 more source

DNA Hypomethylation Is Not Cell Intrinsically Toxic to Polycomb Repressive Complex 2 Deficient Malignant Peripheral Nerve Sheath Tumors. [PDF]

Genes Chromosomes Cancer
Stahl MR, Stehn CM, Seeman ZJ, Faulk C, Largaespada DA.   +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

From diagnosis to daily life: A comparative pilot study on healthcare access and challenges for neurofibromatosis type 1 in public systems of Brazil and Portugal. [PDF]

Clinics (Sao Paulo)
de Francisco DD, Silva IMW, Saraiva JM, Steiner CE, Gil-da-Silva-Lopes VL.   +4 more
europepmc   +1 more source

Encephalocraniocutaneous lipomatosis: a rare and sporadic phakomatosis. [PDF]

An Bras Dermatol
Palhano ACM, Neumayer JMO, Ferradoza MTN, Samorano LP, Rivitti-Machado MC, de Oliveira ZNP.   +5 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

Unilateral Yasunari Nodule-Like Appearance in a Patient Without Neurofibromatosis Type 1. [PDF]

Eur J Case Rep Intern Med
Ali H, Ahmadova N, Fatihoglu OU, Kocabey M, Caglayan AO, Saatci AO.   +5 more
europepmc   +1 more source

A text mining and ontology-based approach using phenotypes to obtain relevant literature for rare diseases. [PDF]

iScience
Pérez-García J, García-Criado F, Pazos F, Chagoyen M, Rojano E, Seoane P, Ranea JAG.   +6 more
europepmc   +1 more source

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

Cancers (Basel)
Monika F, Abu Mehsen S, Zhang L.
europepmc   +1 more source

Clinical Impact of Germline Multigene Sequencing in Pediatric Cohorts with a Wide Spectrum of Neoplasms. [PDF]

Int J Mol Sci
Semenova V, Zhukovskaya E, Zelenova E, Kozlova V, Krasnov G, Levashov A, Sagoyan G, Belysheva T, Kharchikov D, Suleymanova A, Ivanova N, Lozovaya A, Rubanskaya M, Gelfer S, Sharapova E, Mikhaylova S, Valiev T, Karelin A, Varfolomeeva S, Nasedkina T.   +19 more
europepmc   +1 more source