نتائج البحث - "Neurofibromatosis 1"

101

Image Gallery: Segmental neurofibromatosis type 1 on the face. A 30-year delay in diagnosis

المؤلفون: Inés Poveda-Montoyo, Luca Schneller-Pavelescu, Pedro Álvarez-Chinchilla, M C Martínez-Hergueta, José Bañuls, E Vergara-de Caso

المصدر: BRITISH JOURNAL OF DERMATOLOGY
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname

مصطلحات موضوعية: medicine.medical_specialty, Neurofibromatosis 1, Neurofibromatoses, business.industry, Face (geometry), Face, Segmental neurofibromatosis, Medicine, Humans, Dermatology, Radiology, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c8a9e820e73a993fae4b33fd85e8e9fTest
https://fundanet.isabial.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=5724Test

102

Dysfunctional coping is related to impaired skin-related quality of life and psychological distress in patients with neurofibromatosis type 1 with major skin involvement

المؤلفون: Daniela Zuccarello, Eva Trevisson, Gioia Bottesi, Maurizio Clementi, Andrea Spoto, Giulio Vidotto, Matteo Cassina

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b148a130ce3e2ea66faf31e459f948deTest
https://hdl.handle.net/11577/3316426Test

103

Poliosis circumscripta in association with neurofibromatosis type 1. only a coincidence

المؤلفون: Emanuele Miraglia, Sandra Giustini, Teresa Lopez, Vincenzo Roberti, Chiara Iacovino, Stefano Calvieri

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Association (object-oriented programming), adult, MEDLINE, Dermatology, medicine.disease, male, middle aged, neurofibromatosis 1, medicine, pigmentation disorders, hair diseases, humans, Neurofibromatosis, business, Poliosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbec8dbb3b6fabe640c2d48b83a1c5d7Test
https://hdl.handle.net/11573/1661525Test

104

Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules

المؤلفون: Eric Legius, Neus Baena, Conxi Lázaro, Eduard Serra, Ignacio Blanco, Bernat Gel, Graciela Pi, Lluïsa Vilageliu, Mercè Pineda, Alex Negro, Daniel Grinberg, Hector Salvador, Elisabeth Castellanos, Inma Rosas, Hilde Brems, Guillem Pintos, Andreu Alibés

المصدر: CLINICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Dipòsit Digital de la UB
Universidad de Barcelona
Clinical Genetics
r-IGTP: Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol

مصطلحات موضوعية: 0301 basic medicine, Male, multiple CALMs, DNA Mutational Analysis, neurofibromatosis type 1, 030105 genetics & heredity, Malalties hereditàries, Medicine, Child, Children, Genetics (clinical), Neurofibromin 1, medicine.diagnostic_test, Cafe-au-Lait Spots, High-Throughput Nucleotide Sequencing, genetic testing, Phenotype, Cafe-au-lait macules, Neoplasm Proteins, Child, Preschool, Hereditary Cancer, Female, Infants, Genetic diseases, medicine.medical_specialty, Neurofibromatosis 1, Context (language use), RASopathy, NGS panel, 03 medical and health sciences, Genetics, Humans, Genetic Testing, Neurofibromatosis, RASopathies, Genetic testing, business.industry, Infant, Proteins, medicine.disease, Dermatology, 030104 developmental biology, Early Diagnosis, Clinical diagnosis, Mutation, business, Proteïnes