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1دورية أكاديمية
المؤلفون: Hao Wu, Jin-Huan Lin, Xin-Ying Tang, Gaëlle Marenne, Wen-Bin Zou, Sacha Schutz, Emmanuelle Masson, Emmanuelle Génin, Yann Fichou, Gerald Le Gac, Claude Férec, Zhuan Liao, Jian-Min Chen
المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-23 (2024)
مصطلحات موضوعية: Chronic pancreatitis, Full-length gene splicing assay (FLGSA), Precision medicine in genetics, Pre-mRNA splicing, Single-nucleotide variants (SNVs), SpliceAI, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1479-7364Test
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2دورية أكاديمية
المؤلفون: Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, David N. Cooper, Gerald Le Gac, Yann Fichou, Na Pu, Vinciane Rebours, Claude Férec, Zhuan Liao, Jian-Min Chen
المصدر: Human Genomics, Vol 16, Iss 1, Pp 1-15 (2022)
مصطلحات موضوعية: ACMG guidelines, Allele frequency threshold, Allelic heterogeneity, Disease prevalence, Exome sequencing, Genetic heterogeneity, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1479-7364Test
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3دورية أكاديمية
المؤلفون: Jin-Huan Lin, Hao Wu, Wen-Bin Zou, Emmanuelle Masson, Yann Fichou, Gerald Le Gac, David N. Cooper, Claude Férec, Zhuan Liao, Jian-Min Chen
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: aberrant transcript, full-length gene splicing assay, genetic variant, minigene splicing assay, splice site, SpliceAI, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.701652/fullTest; https://doaj.org/toc/1664-8021Test
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4دورية أكاديمية
المؤلفون: Virginie Scotet, Philippe Saliou, Marianne Uguen, Carine L’Hostis, Marie-Christine Merour, Céline Triponey, Brigitte Chanu, Jean-Baptiste Nousbaum, Gerald Le Gac, Claude Ferec
المصدر: BMC Pregnancy and Childbirth, Vol 18, Iss 1, Pp 1-8 (2018)
مصطلحات موضوعية: Genetic hemochromatosis, Iron overload, Phenotype, Pregnancy, Gynecology and obstetrics, RG1-991
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12884-018-1684-6Test; https://doaj.org/toc/1471-2393Test
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5دورية أكاديمية
المؤلفون: Valerie Ugo, Sylvie Tondeur, Marie-Laurence Menot, Nadine Bonnin, Gerald Le Gac, Carole Tonetti, Veronique Mansat-De Mas, Lydie Lecucq, Jean-Jacques Kiladjian, Christine Chomienne, Christine Dosquet, Nathalie Parquet, Luc Darnige, Marc Porneuf, Martine Escoffre-Barbe, Stephane Giraudier, Eric Delabesse, Bruno Cassinat, French Intergroup of Myeloproliferative disorders
المصدر: PLoS ONE, Vol 5, Iss 1, p e8893 (2010)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC2811183?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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6دورية أكاديمية
المصدر: International Journal of Molecular Sciences; Volume 22; Issue 12; Pages: 6412
مصطلحات موضوعية: ferroportin, major facilitator family, extracellular gate dynamics, gating helix, iron export mechanism
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms22126412Test
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7
المؤلفون: Emmanuelle Masson, Stéphanie Berthet, Gerald Le Gac, Marc Le Rhun, Chandran Ka, Sandrine Autret, Isabelle Gourlaouen, David N. Cooper, Claude Férec, Vinciane Rebours, Jian-Min Chen
المصدر: Pancreatology.
مصطلحات موضوعية: Hepatology, Endocrinology, Diabetes and Metabolism, Gastroenterology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f1d70db456def565f9fa45849b30bec4Test
https://doi.org/10.1016/j.pan.2023.05.011Test -
8دورية أكاديمية
المؤلفون: Raphaël Leman, Hélène Tubeuf, Sabine Raad, Isabelle Tournier, Céline Derambure, Raphaël Lanos, Pascaline Gaildrat, Gaia Castelain, Julie Hauchard, Audrey Killian, Stéphanie Baert-Desurmont, Angelina Legros, Nicolas Goardon, Céline Quesnelle, Agathe Ricou, Laurent Castera, Dominique Vaur, Gérald Le Gac, Chandran Ka, Yann Fichou, Françoise Bonnet-Dorion, Nicolas Sevenet, Marine Guillaud-Bataille, Nadia Boutry-Kryza, Inès Schultz, Virginie Caux-Moncoutier, Maria Rossing, Logan C. Walker, Amanda B. Spurdle, Claude Houdayer, Alexandra Martins, Sophie Krieger
المصدر: BMC Genomics, Vol 21, Iss 1, Pp 1-12 (2020)
مصطلحات موضوعية: Branch point, Prediction, RNA, Benchmark, HSF, SVM-BPfinder, Biotechnology, TP248.13-248.65, Genetics, QH426-470
العلاقة: https://doi.org/10.1186/s12864-020-6484-5Test; https://doaj.org/toc/1471-2164Test; https://doaj.org/article/da6b4502084e4b2a87009788da78c331Test
الإتاحة: https://doi.org/10.1186/s12864-020-6484-5Test
https://doaj.org/article/da6b4502084e4b2a87009788da78c331Test -
9دورية أكاديمية
المؤلفون: LeeAnn Ramsay, Marie‐Lise Quillé, Cyrille Orset, Pierre de laGrange, Estelle Rousselet, Claude Férec, Gérald Le Gac, Emmanuelle Génin, Serge Timsit
المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 9, Pp 1681-1695 (2019)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
العلاقة: https://doi.org/10.1002/acn3.50861Test; https://doaj.org/toc/2328-9503Test; https://doaj.org/article/c6cf0ce2bb62404e9a0a42db45ae0385Test
الإتاحة: https://doi.org/10.1002/acn3.50861Test
https://doaj.org/article/c6cf0ce2bb62404e9a0a42db45ae0385Test -
10
المؤلفون: Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, David N. Cooper, Gerald Le Gac, Yann Fichou, Na Pu, Vinciane Rebours, Claude Férec, Zhuan Liao, Jian-Min Chen
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c11dd69ceb8d43806dd1c9f9a72a39ddTest
https://doi.org/10.1101/2022.06.03.22275950Test