المؤلفون: Laurence Pacot, Dominique Vidaud, Audrey Sabbagh, Ingrid Laurendeau, Audrey Briand-Suleau, Audrey Coustier, Théodora Maillard, Cécile Barbance, Fanny Morice-Picard, Sabine Sigaudy, Olga Glazunova, Lena Damaj, Valérie Layet, Chloé Quelin, Brigitte Gilbert-Dussardier, Frédérique Audic, Hélène Dollfus, Anne-Marie Guerrot, James Lespinasse, Sophie Julia, Marie-Christine Vantyghem, Magali Drouard, Marilyn Lackmy, Bruno Leheup, Yves Alembik, Alexia Lemaire, Patrick Nitschké, Florence Petit, Anne Dieux Coeslier, Eugénie Mutez, Alain Taieb, Mélanie Fradin, Yline Capri, Hala Nasser, Lyse Ruaud, Benjamin Dauriat, Sylvie Bourthoumieu, David Geneviève, Séverine Audebert-Bellanger, Mathilde Nizon, Radka Stoeva, Geoffroy Hickman, Gaël Nicolas, Juliette Mazereeuw-Hautier, Arnaud Jannic, Salah Ferkal, Béatrice Parfait, Michel Vidaud, members of the NF France Network, Pierre Wolkenstein, Eric Pasmant

المصدر: Cancers; Volume 13; Issue 12; Pages: 2963

مصطلحات موضوعية: neurofibromatosis type 1, NF1, NF1 deletion, genotype–phenotype correlation, neurofibromas, NFs, malignant peripheral nerve sheath tumors, MPNSTs, tumor predisposition, learning disabilities, dysmorphism, skeletal abnormalities, cardiovascular abnormalities

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/cancers13122963Test

الإتاحة: https://doi.org/10.3390/cancers13122963Test

المؤلفون: Florence Riant, Sylvain Redon, Christian Lucas, Laurence Le Moigno, Stéphane Auvin, Diana Ratiu, Agathe Roubertie, Nathalie Guy, Anne Donnet, Antoine Defo, Caroline Roos, Guillaume Baille, François Viallet, Elisabeth Tournier-Lasserve, Cecile Barbance, Alice Cahn, Nicolas Gaillard, Christel Thauvin, Caroline Rey, Florina Cata, Cécile Boulanger, Jessica Hadjadj, Evelyne Massardier, Emmanuel Cheuret, Sylvie Lamoureux, Geneviève Demarquay, Jean-Christophe Cuvellier, Anne Ducros, Marion Beltramone

المصدر: Neurology. 98:e51-e61

مصطلحات موضوعية: Proband, medicine.medical_specialty, Sleep disorder, business.industry, Paroxysmal dyskinesia, medicine.disease, Epilepsy, Migraine, ATP1A2, Internal medicine, medicine, Neurology (clinical), business, PRRT2, Familial hemiplegic migraine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f3db7583c302a94f3cb28154c11a02deTest
https://doi.org/10.1212/wnl.0000000000012947Test

المؤلفون: C. Ploton, Florence Riant, E. Tournier-Lasserve, Anne Ducros, Cecile Barbance, Christel Depienne

المصدر: Neurology. 75:967-972

مصطلحات موضوعية: Proband, Pathology, medicine.medical_specialty, Pediatrics, Ataxia, business.industry, medicine.disease, Migraine with aura, Epilepsy, Migraine, ATP1A2, Medicine, Neurology (clinical), medicine.symptom, Age of onset, business, Allele frequency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1acd0a8addaaf1de9a24b0e34dbf517fTest
https://doi.org/10.1212/wnl.0b013e3181f25e8fTest

المؤلفون: Agnès Trébuchon, Cecile Barbance, Pascal Sabouraud, Elisabeth Tournier-Lasserve, Christel Depienne, Aurélie Méneret, Christian Lucas, Florence Riant, Emmanuel Roze, Lucie Guyant-Maréchal

المصدر: ResearcherID

مصطلحات موضوعية: Male, Mutation, Benign familial infantile epilepsy, Adolescent, business.industry, Migraine with Aura, Choreoathetosis, Membrane Proteins, Nerve Tissue Proteins, Paroxysmal dyskinesia, Bioinformatics, medicine.disease_cause, medicine.disease, Phenotype, Culprit, Migraine with aura, medicine, Humans, Female, Neurology (clinical), medicine.symptom, business, Child, PRRT2

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04defdefc3ade0d24fa9d9f4259fd68cTest
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000311284300010&KeyUID=WOS:000311284300010Test