المؤلفون: Camille Cohen, Emeline Bellanger, Jeremie Mortreux, Laure Raymond, François Vialard, Rodolphe Dard

المصدر: Genes and Diseases, Vol 11, Iss 4, Pp 101137- (2024)

مصطلحات موضوعية: Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352304223004208; https://doaj.org/toc/2352-3042

URL الوصول: https://doaj.org/article/9b232c6d7209444194e23b29f7879e2b

المؤلفون: Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)

مصطلحات موضوعية: Autosomal recessive primary microcephaly, Genetic heterogeneity, WDR62, Whole exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0625-6; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/196ce69523b143688964aa9e70701aa6

المؤلفون: Abdelali Zrhidri, Saadia Amasdl, Jaber Lyahyai, Hanane Elouardi, Bouchra Chkirate, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani

المصدر: Pediatric Rheumatology Online Journal, Vol 15, Iss 1, Pp 1-6 (2017)

مصطلحات موضوعية: Mucolipidosis III gamma, GNPTG, Whole exome sequencing, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12969-017-0200-2; https://doaj.org/toc/1546-0096

URL الوصول: https://doaj.org/article/27d28f4c1c0c4a92b08b62c0ea7daab3

المؤلفون: Alice Doreille, Yannis Lombardi, Marine Dancer, Radoslava Lamri, Quentin Testard, Xavier Vanhoye, Anne-Sophie Lebre, Hugo Garcia, Cédric Rafat, Nacera Ouali, Yosu Luque, Hassan Izzedine, Emmanuel Esteve, Alexandre Cez, Camille Petit-Hoang, Hélène François, Armance Marchal, Emmanuel Letavernier, Véronique Frémeaux-Bacchi, Jean-Jacques Boffa, Eric Rondeau, Laure Raymond, Laurent Mesnard

المصدر: Kidney International Reports. 8:596-605

مصطلحات موضوعية: Nephrology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::70d65a2114839cb18d22c324cb65906a
https://doi.org/10.1016/j.ekir.2022.12.007

المؤلفون: Thomas Robert, Benjamin Savenkoff, Tristan Legris, Laure Raymond, Julia Torrents, Stéphane Burtey, Marine Dancer

المصدر: Nephrology Dialysis Transplantation. 38:1057-1060

مصطلحات موضوعية: Transplantation, Nephrology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b55d6d246c343e199681f139c407f1fc
https://doi.org/10.1093/ndt/gfac319

المؤلفون: Kevin Yauy, François Lecoquierre, Stéphanie Baert-Desurmont, Detlef Trost, Aicha Boughalem, Armelle Luscan, Jean-Marc Costa, Vanna Geromel, Laure Raymond, Pascale Richard, Sophie Coutant, Mélanie Broutin, Raphael Lanos, Quentin Fort, Stenzel Cackowski, Quentin Testard, Abdoulaye Diallo, Nicolas Soirat, Jean-Marc Holder, Nicolas Duforet-Frebourg, Anne-Laure Bouge, Sacha Beaumeunier, Denis Bertrand, Jerome Audoux, David Genevieve, Laurent Mesnard, Gael Nicolas, Julien Thevenon, Nicolas Philippe

المصدر: Genetics in Medicine. 24:1316-1327

مصطلحات موضوعية: Phenotype, Genome, Human, Databases, Genetic, Genetic Variation, Humans, Genomics, Genetics (clinical), Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b75e49ffcf32629d36974d0136e6d597
https://doi.org/10.1016/j.gim.2022.02.008

المؤلفون: Zine-Eddine Kherraf, Caroline Cazin, Amine Bouker, Selima Fourati Ben Mustapha, Sylviane Hennebicq, Amandine Septier, Charles Coutton, Laure Raymond, Marc Nouchy, Nicolas Thierry-Mieg, Raoudha Zouari, Christophe Arnoult, Pierre F. Ray

المصدر: Am J Hum Genet

مصطلحات موضوعية: DNA-Binding Proteins, Male, Sperm Retrieval, Testis, Exome Sequencing, DNA Helicases, Genetics, Humans, Article, Genetics (clinical), Azoospermia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ceb077fc34b24eaf86f7ffd9cbab4b3
https://doi.org/10.1016/j.ajhg.2022.01.011

المؤلفون: Thomas Robert, Laure Raymond, Marine Dancer, Julia Torrents, Noémie Jourde-Chiche, Stéphane Burtey, Christophe Béroud, Laurent Mesnard

المصدر: Clinical Kidney Journal.

مصطلحات موضوعية: Transplantation, Nephrology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fe1d37689bfb723ead4489a6c816cf37
https://doi.org/10.1093/ckj/sfad099

المؤلفون: Cédric Rafat, Alice Doreille, Marine Dancer, Alexis Werion, Jean-François Benoist, Laure Raymond, Laurent Mesnard

المصدر: Clinical Kidney Journal.

مصطلحات موضوعية: Transplantation, Nephrology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0a57522808417bd97cb597d1dba42287
https://doi.org/10.1093/ckj/sfad094

المؤلفون: Quentin Sabbagh, Jean-David Cohen, Jérémie Mortreux, Laure Raymond, Vanna Geromel, Guilaine Boursier, Eric Jeziorski, Vincent Le Moing, Didier Bessis, David Geneviève

المصدر: Dermatitis®.

مصطلحات موضوعية: Immunology and Allergy, Dermatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dd88394f8286188d820723f1745953f9
https://doi.org/10.1089/derm.2022.0057

المؤلفون: Eric, Olinger, Céline, Schaeffer, Kendrah, Kidd, Elhussein A E, Elhassan, Yurong, Cheng, Inès, Dufour, Guglielmo, Schiano, Holly, Mabillard, Elena, Pasqualetto, Patrick, Hofmann, Daniel G, Fuster, Andreas D, Kistler, Ian J, Wilson, Stanislav, Kmoch, Laure, Raymond, Thomas, Robert, Kai-Uwe, Eckardt, Anthony J, Bleyer, Anna, Köttgen, Peter J, Conlon, Michael, Wiesener, John A, Sayer, Luca, Rampoldi, Olivier, Devuyst

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 119(33)

مصطلحات موضوعية: Heterozygote, Mutation, Uromodulin, Humans, Renal Insufficiency, Chronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::81ba4f829277fab8358cbdfe1ede7379
https://pubmed.ncbi.nlm.nih.gov/35947615

المؤلفون: Thomas Robert, Bertrand Dussol, Noemie Jourde-Chiche, Tristan Legris, Valérie Moal, Marion Sallee, Marion Pelletier, Laure Raymond, Philippe Brunet, Stephane Burtey

المصدر: Nephrology Dialysis Transplantation. 37

مصطلحات موضوعية: Transplantation, Nephrology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f3bc3425c068b7bae8ee281756aca147
https://doi.org/10.1093/ndt/gfac102.002

المؤلفون: Giulio Nobile, Alice Doreille, Laure Raymond, Thomas Robert, Patricia Villie, Laurent Mesnard, Cédric Rafat

المصدر: Nephrology Dialysis Transplantation. 37

مصطلحات موضوعية: Transplantation, Nephrology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bc0f5f4c47f4a1a6eb2b015c6d191a0e
https://doi.org/10.1093/ndt/gfac062.024

المؤلفون: Francesca Mattioli, Lina Worpenberg, Cai-Tao Li, Nazia Ibrahim, Shagufta Naz, Saima Sharif, Saghar Ghasemi Firouzabadi, Shohreh Vosoogh, Radoslava Saraeva-Lamri, Laure Raymond, Carlos Trujillo, Nicolas Guex, Stylianos E. Antonarakis, Muhammad Ansar, Hossein Darvish, Ru-Juan Liu, Jean-Yves Roignant, Alexandre Reymond

المصدر: Genetics in Medicine. :100900

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::43551ce841c12b33c08d05e4ccaa5c78
https://doi.org/10.1016/j.gim.2023.100900

المؤلفون: Emmanuel Letavernier, Madeline Schwoehrer, Marine Livrozet, Camille Saint-Jacques, Laure Raymond, Radoslava Saraeva, Jean-Philippe Haymann, Vincent Frochot, Michel Daudon, Laurent Mesnard

المساهمون: Service d'Explorations fonctionnelles multidisciplinaires [CHU Tenon], CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Common and Rare Kidney Diseases = Maladies Rénales Fréquentes et Rares: des Mécanismes Moléculaires à la Médecine Personnalisée (CORAKID), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre hospitalier régional Metz-Thionville (CHR Metz-Thionville), Eurofins Biomnis, Service des soins intensifs néphrologiques et rein aigu [CHU Tenon] (SINRA ), Institut des Sciences du Calcul et des Données (ISCD), Sorbonne Université (SU)

المصدر: Kidney International Reports
Kidney International Reports, Elsevier, 2021, ⟨10.1016/j.ekir.2021.11.035⟩

مصطلحات موضوعية: 0303 health sciences, 03 medical and health sciences, 0302 clinical medicine, Nephrology, 030232 urology & nephrology, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 3. Good health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bea34da75d554b6c0ff01292422f84e
https://hal.sorbonne-universite.fr/hal-03479586

المؤلفون: Quentin Testard, Xavier Vanhoye, Kevin Yauy, Marie-Emmanuelle Naud, Gaelle Vieville, Francis Rousseau, Benjamin Dauriat, Valentine Marquet, Sylvie Bourthoumieu, David Genevieve, Vincent Gatinois, Constance Wells, Marjolaine Willems, Christine Coubes, Lucile Pinson, Rodolphe Dard, Aude Tessier, Bérénice Hervé, François Vialard, Ines Harzallah, Renaud Touraine, Benjamin Cogné, Wallid Deb, Thomas Besnard, OIivier Pichon, Béatrice Laudier, Laurent Mesnard, Alice Doreille, Tiffany Busa, Chantal Missirian, Véronique Satre, Charles Coutton, Tristan Celse, Radu Harbuz, Laure Raymond, Jean-François Taly, Julien Thevenon

مصطلحات موضوعية: Oncology, medicine.medical_specialty, DNA Copy Number Variations, business.industry, High-Throughput Nucleotide Sequencing, Aneuploidy, Retrospective cohort study, medicine.disease, DNA sequencing, Internal medicine, Cohort, Genetics, medicine, Humans, Exome, Prospective Studies, Copy-number variation, business, Prospective cohort study, Genetics (clinical), Exome sequencing, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::802e35e0415f3246533a03d287191c78
https://doi.org/10.1101/2021.10.14.21264732

المؤلفون: Laure Raymond, Alice Doreille, Laurent Mesnard

المصدر: New England Journal of Medicine. 380:2078-2081

مصطلحات موضوعية: Sequence analysis, business.industry, MEDLINE, Sequence Analysis, DNA, General Medicine, Computational biology, medicine.disease, Exome Sequencing, medicine, Humans, Exome, Kidney Diseases, business, Exome sequencing, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb43f251fb781f6d848acc20b69efa9c
https://doi.org/10.1056/nejmc1903250

المؤلفون: Sophie Coutant, Armelle Luscan, Quentin Fort, Nicolas Soirat, Abdoulaye Hama Diallo, Mélanie Broutin, Julien Thevenon, Nicolas Philippe, Stéphanie Baert-Desurmont, David Geneviève, Raphaël Lanos, Sacha Beaumeunier, Laurent Mesnard, Jean-Marc Costa, Jérôme Audoux, Kevin Yauy, Laure Raymond, Vanna Geromel, Denis Bertrand, Jean-Marc Holder, Stenzel Cackowski, Aïcha Boughalem, Detlef Trost, Anne-Laure Bougé, Gaël Nicolas, Pascale Richard, Nicolas Duforet-Frebourg, François Lecoquierre, Quentin Testard

مصطلحات موضوعية: Population genomics, Reinterpretation, business.industry, Medicine, Clinical significance, Computational biology, Clinical routine, business, Genome, New diagnosis, Exome sequencing, Genotype phenotype

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3d1d21fbb3052a335d996f21f92bb22a
https://doi.org/10.1101/2021.07.13.21260422

المؤلفون: Laure Raymond, Nicolas Benichou, Laurent Mesnard, Hélène François, Emmanuel Letavernier

المصدر: Kidney International. 100:955-956

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Nephrology, business.industry, Humans, Medicine, Microscopic hematuria, business, Hematuria

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fe3fb4d38ea1e36232908cbed392482
https://doi.org/10.1016/j.kint.2021.03.022

المؤلفون: Alice Doreille, Alexandre Karras, Rateb Al Khayat, P.A. Michel, Yosu Luque, Radoslava Saraeva Lamri, Laurent Mesnard, Laure Raymond, Cédric Rafat, David Buob, Anne-Sophie Lebre, Charel Linster

المصدر: Clin J Am Soc Nephrol

مصطلحات موضوعية: Nephrology, Adult, Male, medicine.medical_specialty, Pediatrics, Thrombotic microangiopathy, Epidemiology, 030232 urology & nephrology, MEDLINE, 030204 cardiovascular system & hematology, urologic and male genital diseases, Critical Care and Intensive Care Medicine, Severity of Illness Index, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Nephronophthisis, Internal medicine, medicine, Humans, Young adult, Exome sequencing, Transplantation, Nephrosclerosis, business.industry, Thrombotic Microangiopathies, Kidney Diseases, Cystic, medicine.disease, female genital diseases and pregnancy complications, Research Letters, Ciliopathy, Phenotype, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e61838dc61ec76c74c09cbbb2a4a7ec2
https://pubmed.ncbi.nlm.nih.gov/33268504