Results 111 to 120 of about 510 (170)

Neurofibromatose Typ 1 (NF1‑Gen) [PDF]

Journal für Klinische Endokrinologie und Stoffwechsel, 2019
openaire   +1 more source

Hétérochromie irienne causée par le syndrome de Waardenburg chez un nourrisson de 2 mois. [PDF]

CMAJ
Lin PA, Hung JH, Huang YH.
europepmc   +1 more source

[Imaging diagnostics for diseases of the small bowel]. [PDF]

Radiologie (Heidelb)
Scharitzer M, Mang T, Bogveradze N, Attenberger U.   +3 more
europepmc   +1 more source

P19. NEUROFIBROMATOSE TIPO 1: NOVA MUTAÇÃO

Revista Portuguesa de Endocrinologia, Diabetes e Metabolismo, 2012
Lau, E., Freitas, P., Sousa, C., Carvalho, D.   +3 more
openaire   +1 more source

Age-Adapted Diagnostic Evaluation and Treatment of Patients With Type 1 Neurofibromatosis in Germany. [PDF]

Dtsch Arztebl Int
Farschtschi S, Vaassen P, Kluwe L, Hartung T, Salamon J, Rosenbaum T.   +5 more
europepmc   +1 more source

Altered structural networks and cognitive functioning in long-term survivors of pediatric brain tumors. [PDF]

Neuroimage Rep
Bullens K, Sleurs C, Blommaert J, Gavrila Laic RA, Radwan A, De Roeck L, Dupont P, Lemiere J, Jacobs S.   +8 more
europepmc   +1 more source

[Gastrointestinal stromal tumors : Where do we stand?] [PDF]

Pathologie (Heidelb)
Wardelmann E, Kuntze A, Voloshin A, Elges S, Trautmann M, Hartmann W.   +5 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

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

[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