-
1
المؤلفون: Vera Bril, Hadiya Elahmar, Carolina Barnett, Geohana Hamoy-Jimenez, Meg Mendoza, Raymond H. Kim
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)
مصطلحات موضوعية: Adult, Male, Quality of life, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Perceived physical appearance, Cross-sectional study, Anxiety, Sex Factors, Quality of life (healthcare), Surveys and Questionnaires, medicine, Humans, Gender differences, In patient, Pharmacology (medical), Neurofibromatosis, Genetics (clinical), business.industry, General Medicine, medicine.disease, Cross-Sectional Studies, NF1, Medicine, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6cfa2952079f67e03063f647becb7beTest
https://doaj.org/article/617c359852f743318f5ae88daf56ab13Test -
2
المؤلفون: Freigang, Maren, Steinacker, Petra, Otto, Markus, Hermann, Andreas, Günther, René, Wurster, Claudia Diana, Schreiber-Katz, Olivia, Osmanovic, Alma, Petri, Susanne, Koch, Jan Christoph, Rostásy, Kevin, Falkenburger, Björn, Ludolph, Albert
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases 16(1), 330 (2021). doi:10.1186/s13023-021-01961-8مصطلحات موضوعية: Adult, drug therapy [Muscular Atrophy, Spinal], Research, nusinersen, Oligonucleotides, Biomarker, Chitotriosidase 1, Muscular Atrophy, Spinal, ASO, chitotriosidase, Hexosaminidases, Nusinersen, Humans, Medicine, ddc:610, Prospective Studies, SMA, Child
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c1f62fdc8a2e14a874cbf8a1adc782fbTest
https://doaj.org/article/0cde2deffee34edd83dfefc691547d42Test -
3
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-5 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Neurofibromatoses, Lymphoma, Population, Malignancy, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Pharmacology (medical), Medical history, Lymphoproliferative diseases, Neurofibromatosis, education, Letter to the Editor, Genetics (clinical), education.field_of_study, Leukemia, business.industry, Incidence, Incidence (epidemiology), General Medicine, medicine.disease, 030104 developmental biology, Standardized mortality ratio, 030220 oncology & carcinogenesis, Female, France, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6a7fedf62d3dce674a48ac2ace2c5b2Test
https://doaj.org/article/af92d7c4cd8842b0a1f8c5f2a9d90b0aTest -
4
المؤلفون: François Hemery, Pierre Wolkenstein, Christina Bergqvist, Salah Ferkal
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-4 (2020)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Population, lcsh:Medicine, Multiple sclerosis, Epidemiology, Autoimmune disease, medicine, Humans, Pharmacology (medical), Genodermatosis, Neurofibromatosis, education, Letter to the Editor, Genetics (clinical), education.field_of_study, Neurofibromin 1, business.industry, Incidence (epidemiology), lcsh:R, General Medicine, Odds ratio, medicine.disease, Confidence interval, nervous system diseases, Chromosome 17 (human), Mutation, Female, France, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bf918dca1bf1cfa9dcebb62d7597094Test
http://link.springer.com/article/10.1186/s13023-020-01463-zTest -
5
المؤلفون: Jean-Marc Grégoire, Athmane Bouroubi, Roxane Beauchamp, Arnaud Bocquet, Anne-Marie Schmitt, Marlene Guiraud, Pierre Wolkenstein, Ignacio Blanco, Isabelle Rauly-Lestienne
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Male, Quality of life, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Skin Neoplasms, Adolescent, Future medication, lcsh:Medicine, Social burden, Social life, 03 medical and health sciences, Laser treatments, Young Adult, 0302 clinical medicine, Surveys and Questionnaires, Medicine, Humans, Pharmacology (medical), European Union, Community survey, Genetics (clinical), Aged, Motivation, Neurofibroma, Health professionals, business.industry, Research, lcsh:R, Cutaneous neurofibromas, General Medicine, Middle Aged, Therapeutic modalities, Patient community survey, Real-world experience, Mood, Current management, 030220 oncology & carcinogenesis, Female, business, 030217 neurology & neurosurgery, Neurofibromatosis type 1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fbb1b2f09041fe797f753b1d30011d0Test
https://doaj.org/article/d66d2cf1a4c74bed92a3ce2b1f743acbTest -
6
المؤلفون: Ashley Cannon, David T. Redden, Peng Li, Mei-Jan Chen, Amy Theos, Kevin P. Boyd, Bruce R. Korf
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Neurofibromatosis 1, Skin Neoplasms, lcsh:Medicine, 030207 dermatology & venereal diseases, 03 medical and health sciences, Natural history study, 0302 clinical medicine, Quality of life, medicine, Humans, Pharmacology (medical), Neurofibromatosis, Genetics (clinical), Aged, Neurofibromatosis type I, Pregnancy, Neurofibroma, business.industry, Research, lcsh:R, Genetic disorder, Cutaneous neurofibromas, General Medicine, Middle Aged, medicine.disease, Dermatology, Natural history, Random effect modeling, Body region, Female, business, 030217 neurology & neurosurgery, Neurofibromatosis type 1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96f7abb6577b488ff96541d987c392b5Test
http://link.springer.com/article/10.1186/s13023-018-0772-zTest -
7
المؤلفون: Chahnez Triki, Lobna Trabelsi, Nacim Louhichi, Emna Bahloul, Nadia Mahfouth, Leila Keskes, Faiza Fakhfakh, Houda Ben Othman, Slaheddine Marrakchi, Hamida Turki, Zeineb Ayadi-Mnif, Kawthar Aloulou
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, endocrine system, Congenital ichthyosiform erythroderma, endocrine system diseases, Thyroid Gland, lcsh:Medicine, 030105 genetics & heredity, CDS, Lipid Metabolism, Inborn Errors, White matter, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, Hypothyroidism, Parenchyma, medicine, Humans, Pharmacology (medical), Muscle, Skeletal, Genetics (clinical), Retrospective Studies, ABHD5 gene, Kidney, business.industry, Research, Thyroid disease, Homozygote, Thyroid, lcsh:R, Exons, General Medicine, 1-Acylglycerol-3-Phosphate O-Acyltransferase, Ichthyosiform Erythroderma, Congenital, Middle Aged, medicine.disease, C.773(− 1)G > A mutation, Introns, Splice site, medicine.anatomical_structure, Mutation, Female, Cerebellar atrophy, Thyroid function, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d18772a896c3eea43a1136447d58661Test
http://link.springer.com/article/10.1186/s13023-019-1095-4Test -
8
المؤلفون: Massimiliano G. Bianchi, Rossana Visigalli, Francesca Ferrari, Filippo Ingoglia, Carlo Dionisi-Vici, Valeria Dall'Asta, Amelia Barilli, Bianca Maria Rotoli, Diego Martinelli
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Arginine, Mutant, lcsh:Medicine, CHO Cells, 030105 genetics & heredity, medicine.disease_cause, Monocytes, 03 medical and health sciences, chemistry.chemical_compound, Cricetulus, Cytosol, 0302 clinical medicine, Arginine transport, medicine, Animals, Humans, Pharmacology (medical), eGFP fusion proteins, Child, Amino Acid Metabolism, Inborn Errors, Cells, Cultured, Genetics (clinical), Mutation, Site-directed mutagenesis, Chemistry, Fusion Regulatory Protein 1, Light Chains, Research, Chinese hamster ovary cell, lcsh:R, Amino Acid Transport System y+L, General Medicine, Ornithine, medicine.disease, Lysinuric protein intolerance, Molecular biology, Transport protein, Protein Transport, Child, Preschool, y+L transport system, Female, Subcellular protein localization, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e41a3ae4a4d8214d41379c8cc7acb38bTest
http://link.springer.com/article/10.1186/s13023-019-1028-2Test -
9
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Male, Craniofacial alteration, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Mandibular canal, Periapical cemental dysplasia, lcsh:Medicine, Review, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Speech, Humans, Pharmacology (medical), In patient, Oral soft tissue, Tooth Developoment, Neurofibromatosis, Craniofacial, Child, Periapical Cemental dysplasia, Genetics (clinical), Aged, Dental age, business.industry, Periapical Diseases, Skull, lcsh:R, Mandible, Wide Mandibular Canal, 030206 dentistry, General Medicine, Middle Aged, University hospital, medicine.disease, Dermatology, medicine.anatomical_structure, Female, Abnormality, Mouth Diseases, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f9de14b95de6f8b77e0f8dbdc052cf0Test
http://link.springer.com/article/10.1186/s13023-018-0881-8Test -
10
المؤلفون: Ana Caroline Siquara de Sousa, Deuilton do Nascimento Barboza, Paula Nascimento Almeida, Maria Eugenia Leite Duarte, Eloá Borges Luna, Maria Clara de Macena Correia, Maria Isabel D. Rossi, Karin Soares Gonçalves Cunha, Rhayra B. Dias
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-11 (2018)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Cellular differentiation, lcsh:Medicine, Matrix (biology), Extracellular matrix, Cell therapy, 03 medical and health sciences, Young Adult, 0302 clinical medicine, stomatognathic system, Dental pulp stem cells, Cell differentiation, Humans, Pharmacology (medical), CD90, neoplasms, Genetics (clinical), Cells, Cultured, Dental Pulp, Adipogenesis, Chemistry, Research, Stem Cells, lcsh:R, 030206 dentistry, General Medicine, Chondrogenesis, Cell biology, nervous system diseases, 030104 developmental biology, Female, Cell culture, Multipotentiality
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a543d0eea73dcda77709fe084a9f36cTest
http://link.springer.com/article/10.1186/s13023-018-0843Test-1