Results 111 to 120 of about 548 (179)

Atypical Multifocal Granular Cell Tumor with FLT3 Y842C Somatic Mutation: A case report and a review of the literature. [PDF]

Tunis Med
Zara Rozalen A, Garcia R, Husami S, Marino G, Nava VE.   +4 more
europepmc   +1 more source

Danon Disease: Understanding the Role of LAMP2 Variants in Cardiomyopathy and Multisystemic Involvement. [PDF]

Arq Bras Cardiol
Ribeiro GNP, Lipari LFVP, Senra PM, Pires LVL, Mizuta MH, Olivetti NQS, Aiello VD, Krieger JE.   +7 more
europepmc   +1 more source

Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool. [PDF]

Orphanet J Rare Dis, 2019
Armand ML, Taieb C, Bourgeois A, Bourlier M, Bennani M, Bodemer C, Wolkenstein P, along with the French national network on rare skin diseases (FIMARAD).   +7 more
europepmc   +1 more source

Experiences of stigmatization and its impacts among individuals living with hereditary diseases and family members in Portugal: an exploratory study. [PDF]

J Community Genet
Valentim J, Paneque M, Mendes Á.
europepmc   +1 more source

Discrimination of benign, atypical, and malignant peripheral nerve sheath tumours in neurofibromatosis type 1 - intraindividual comparison of positron emission computed tomography and diffusion-weighted magnetic resonance imaging. [PDF]

EJNMMI Res
Ristow I, Apostolova I, Kaul MG, Stark M, Zapf A, Schmalhofer ML, Mautner VF, Farschtschi S, Adam G, Bannas P, Salamon J, Well L.   +11 more
europepmc   +1 more source

[Precocious puberty in the McCune-Albright Syndrome: a case report]. [PDF]

Pan Afr Med J
Rifai K, El Moatamid K, Iraqi H, Talbi D, Gharbi MEH.   +4 more
europepmc   +1 more source

Neurofibromatosis type 1 adult surveillance form for Austria. [PDF]

Wien Klin Wochenschr
Sunder-Plassmann V, Azizi AA, Farschtschi S, Gruber R, Hutterer M, Ladurner V, Röhl C, Welponer T, Bergmeister-Berghoff AS.   +8 more
europepmc   +1 more source

[Cancer in people with an intellectual disability in Germany: prevalence, genetics, and care situation]. [PDF]

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
Sappok T, Kowalski C, Zenker M, Weißinger F, Berger AW.   +4 more
europepmc   +1 more source

Verbesserung der interdisziplinären Zusammenarbeit zwischen den Fachgebieten Kinder- und Jugendpsychiatrie, und -psychotherapie sowie Humangenetik - Anregungen aus kinder- und jugendpsychiatrischer Sicht. [PDF]

Med Genet
Degenhardt F, Brauer A, Hohmann S, Holtmann M, Barth N, Richterich A, Sotnikova A, von Brisinski IS, Poustka L, Siniatchkin M, Freitag CM, Hebebrand J.   +11 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Neurofibromatoses

Hematology/Oncology Clinics of North America, 2022
The neurofibromatoses are a group of genetic disorders that cause development of nervous system tumors as well as various other tumor and systemic manifestations. Neurofibromatosis type 1 is the most prevalent of these conditions and has the most variable phenotype and highest risk of malignant tumor formation.
Justin T, Jordan, Scott R, Plotkin
openaire   +2 more sources