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1دورية أكاديمية
المؤلفون: Laurence Pacot, Milind Girish, Samantha Knight, Gill Spurlock, Vinod Varghese, Manuela Ye, Nick Thomas, Eric Pasmant, Meena Upadhyaya
المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-12 (2024)
مصطلحات موضوعية: Neurofibromatosis type 1, NF1, Deletion, CNV, Genotype-phenotype correlation, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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2دورية أكاديمية
المؤلفون: Jean-Stéphane Giraud, Anne Jouinot, Eric Pasmant, Camille Tlemsani
المصدر: npj Precision Oncology, Vol 8, Iss 1, Pp 1-6 (2024)
مصطلحات موضوعية: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2397-768XTest
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3دورية أكاديمية
المؤلفون: Camille Tlemsani, Frédérique Larousserie, Sixtine De Percin, Virginie Audard, Djihad Hadjadj, Jeanne Chen, David Biau, Philippe Anract, Benoit Terris, François Goldwasser, Eric Pasmant, Pascaline Boudou-Rouquette
المصدر: International Journal of Molecular Sciences; Volume 24; Issue 2; Pages: 1361
مصطلحات موضوعية: (MeSH terms): chondrosarcoma, dedifferentiated, mesenchymal, IDH1/2, novel agents, treatment
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms24021361Test
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4دورية أكاديمية
المؤلفون: Marion Aubert-Mucca, Charlotte Dubucs, Marion Groussolles, Julie Vial, Edouard Le Guillou, Valerie Porquet-Bordes, Eric Pasmant, Jean-Pierre Salles, Thomas Edouard
المصدر: Bone Reports, Vol 15, Iss , Pp 101097- (2021)
مصطلحات موضوعية: Calcimimetics, Calcium-sensing receptor, Familial hypocalciuric hypercalcemia, Neonatal severe hyperparathyroidism, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2352187221003533Test; https://doaj.org/toc/2352-1872Test
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5دورية أكاديمية
المؤلفون: Camille Tlemsani, Nicolas Pécuchet, Aurelia Gruber, Ingrid Laurendeau, Claire Danel, Marc Riquet, Françoise Le Pimpec‐Barthes, Elizabeth Fabre, Audrey Mansuet‐Lupo, Diane Damotte, Marco Alifano, Armelle Luscan, Benoit Rousseau, Dominique Vidaud, Jennifer Varin, Beatrice Parfait, Ivan Bieche, Karen Leroy, Pierre Laurent‐Puig, Benoit Terris, Helene Blons, Michel Vidaud, Eric Pasmant
المصدر: Cancer Medicine, Vol 8, Iss 9, Pp 4330-4337 (2019)
مصطلحات موضوعية: lung adenocarcinoma, molecular subtype, next generation sequencing, NF1, RAS‐MAPK pathway, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-7634Test
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6دورية أكاديمية
المؤلفون: Antoine Campagne, Ming-Kang Lee, Dina Zielinski, Audrey Michaud, Stéphanie Le Corre, Florent Dingli, Hong Chen, Lara Z. Shahidian, Ivaylo Vassilev, Nicolas Servant, Damarys Loew, Eric Pasmant, Sophie Postel-Vinay, Michel Wassef, Raphaël Margueron
المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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7دورية أكاديمية
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
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8
المؤلفون: Laurence Pacot, Albain Chansavang, Sébastien Jacques, Ingrid Laurendeau, Djihad Hadjadj, Salah Ferkal, Pierre Wolkenstein, Dominique Vidaud, Eric Pasmant
المصدر: European Journal of Human Genetics. 31:380-382
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b13274c7152e5e88f0b21639b99c506aTest
https://doi.org/10.1038/s41431-023-01304-0Test -
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المؤلفون: Lucas Bouys, Anna Vaczlavik, Cavalcante Isadora Pontes, Florian Violon, Anne Jouinot, Annabel Berthon, Patricia Vaduva, Stephanie Espiard, Karine Perlemoine, Peter Kamenicky, Marie-Christine Vantyghem, Antoine Tabarin, Gerald Raverot, Cristina Ronchi, Ulrich Dischinger, Martin Reincke, Barisson Villares Fragoso Maria Candida, Constantine Stratakis, Marie-Odile North, Eric Pasmant, Bruno Ragazzon, Jerome Bertherat
المصدر: Endocrine Abstracts.
مصطلحات موضوعية: General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a060a8c12a5031eb14c9ad1f3c836751Test
https://doi.org/10.1530/endoabs.90.p558Test -
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المؤلفون: Patricia Vaduva, Florian Violon, Jouinot Anne Anne, Lucas Bouys, Stephanie Espiard, Fideline Bonnet, Marie-Odile North, Cardot Catherine, Gerald Raverot, Hieronimus Sylvie, Herve Lefebvre, Marie-Laure Nunes, Antoine Tabarin, Lionel Groussin, Guillaume Assie, Mathilde Sibony, Vantyghem Marie Christine, Eric Pasmant, Jerome Bertherat
المصدر: Endocrine Abstracts.
مصطلحات موضوعية: General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9c9c7d2de3ddb4468f408d6ba22569edTest
https://doi.org/10.1530/endoabs.90.p660Test