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31دورية أكاديمية
المؤلفون: Valérie Bonneau (10298436), Mathilde Nizon (10298439), Xenia Latypova (10298442), Aurélie Gaultier (10286752), Eugénie Hoarau (10298445), Stéphane Bézieau (108133), Guy Minguet (10298448), Mauro Turrini (6996623), Maud Jourdain (10298451), Bertrand Isidor (3180630)
مصطلحات موضوعية: Medicine, Genetics, Pharmacology, Sociology, Science Policy, Biological Sciences not elsewhere classified, Preconception genetic testing, Expanded carrier screening, Reproductive medicine
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المؤلفون: Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M. van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M.W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C.J. Jongmans, F. Sessions Cole, Marie-José H. van den Boogaard, Jennifer A. Wambach, Daniel J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E. Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau
المساهمون: Clinical Genetics, Neurosciences
المصدر: Science Translational Medicine, 15(698):eabo3189. American Association for the Advancement of Science
مصطلحات موضوعية: General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f08541291a7d8417d62644c4db9e51aTest
https://doi.org/10.1126/scitranslmed.abo3189Test -
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المؤلفون: Sébastien Küry, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, Stephanie M. Robert, Sunday S. Josiah, Emre Kiziltug, Anne-Sophie Denommé-Pichon, Benjamin Cogné, Adam J. Kundishora, Le T. Hao, Hong Li, Roger E. Stevenson, Raymond J. Louie, Wallid Deb, Erin Torti, Virginie Vignard, Kirsty McWalter, F. Lucy Raymond, Farrah Rajabi, Emmanuelle Ranza, Detelina Grozeva, Stephanie A. Coury, Xavier Blanc, Elise Brischoux-Boucher, Boris Keren, Katrin Õunap, Karit Reinson, Pilvi Ilves, Ingrid M. Wentzensen, Eileen E. Barr, Solveig Heide Guihard, Perrine Charles, Eleanor G. Seaby, Kristin G. Monaghan, Marlène Rio, Yolande van Bever, Marjon van Slegtenhorst, Wendy K. Chung, Ashley Wilson, Delphine Quinquis, Flora Bréhéret, Kyle Retterer, Pierre Lindenbaum, Emmanuel Scalais, Lindsay Rhodes, Katrien Stouffs, Elaine M. Pereira, Sara M. Berger, Sarah S. Milla, Ankita B. Jaykumar, Melanie H. Cobb, Shreyas Panchagnula, Phan Q. Duy, Marie Vincent, Sandra Mercier, Brigitte Gilbert-Dussardier, Xavier Le Guillou, Séverine Audebert-Bellanger, Sylvie Odent, Sébastien Schmitt, Pierre Boisseau, Dominique Bonneau, Annick Toutain, Estelle Colin, Laurent Pasquier, Richard Redon, Arjan Bouman, Jill. A. Rosenfeld, Michael J. Friez, Helena Pérez-Peña, Syed Raza Akhtar Rizvi, Shozeb Haider, Stylianos E. Antonarakis, Charles E. Schwartz, Francisco Martínez, Stéphane Bézieau, Kristopher T. Kahle, Bertrand Isidor
المساهمون: Clinical Genetics, Clinical sciences, Medical Genetics, Reproduction and Genetics, Centre hospitalier universitaire de Nantes (CHU Nantes), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), University of Exeter, MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), The Greenwood Genetic Center, GeneDx [Gaithersburg, MD, USA], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre hospitalier universitaire de Poitiers (CHU Poitiers), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Genève = University of Geneva (UNIGE), Yale School of Medicine [New Haven, Connecticut] (YSM), This work was granted by the French network of University Hospitals HUGO ('Hôpitaux Universitaires du Grand Ouest'), the French Ministry of Health, and the Health Regional Agencies from Poitou-Charentes (represented by Frédérique Allaire), Bretagne, Pays de la Loire, and Centre-Val de Loire (HUGODIMS, 2013, RC14_0107). W.K.C. was supported by grants from Simons Foundation Autism Research Initiative, United
المصدر: Genetics in Medicine, 24(9), 1941-1951. Lippincott Williams & Wilkins
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1941-1951. ⟨10.1016/j.gim.2022.05.009⟩مصطلحات موضوعية: MESH: Symporters, Exome sequencing, Male, KCC2, Mutation, Missense, MESH: Catalytic Domain, Neurodevelopmental disease, Protein Serine-Threonine Kinases, X-linked intellectual disability, MESH: Brain, WNK3, SDG 3 - Good Health and Well-being, Loss of Function Mutation, Catalytic Domain, MESH: Mental Retardation, X-Linked, Humans, Phosphorylation, MESH: Hemizygote, Genetics (clinical), Hemizygote, MESH: Mutation, Missense, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Phosphorylation, Symporters, Brain, MESH: Loss of Function Mutation, MESH: Protein Serine-Threonine Kinases, MESH: Male, Mental Retardation, X-Linked, Maternal Inheritance, MESH: Maternal Inheritance
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::711e752a43d1442b0a91b2645fc1747eTest
https://doi.org/10.1016/j.gim.2022.05.009Test -
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المؤلفون: Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hulya Kayserili, Kimberly A. Kripps, Shareef A. Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogne, Aida M. Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade
المساهمون: Center for Reproductive Medicine, ACS - Heart failure & arrhythmias, Amsterdam Reproduction & Development
المصدر: Nature genetics. Nature Publishing Group
مصطلحات موضوعية: Adult, Liver Cirrhosis, Liver, Tumor Suppressor Proteins, Hepatocytes, Genetics, Animals, Humans, RNA, Messenger, Syndrome, Child, Zebrafish
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747ba8cc882c52da515268747f0c3985Test
https://doi.org/10.1038/s41588-022-01120-0Test -
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المؤلفون: Andrew T. Chan, Ulrike Peters, Peter Kraft, Brent W. Zanke, Kana Wu, Emily White, Jean Wactawski-Wende, Martha L. Slattery, Daniela Seminara, Fredrick R. Schumacher, Robert E. Schoen, John D. Potter, Kimmie Ng, Polly A. Newcomb, Hongmei Nan, JoAnn E. Manson, Jing Ma, Mathieu Lemire, Loic Le Marchand, Sébastien Küry, Mark A. Jenkins, Thomas J. Hudson, John L. Hopper, Michael Hoffmeister, Brian Henderson, Aditi Hazra, Richard B. Hayes, Tabitha A. Harrison, Edward L. Giovannucci, Steven Gallinger, Charles S. Fuchs, David Duggan, David V. Conti, Stephen J. Chanock, Jenny Chang-Claude, Graham Casey, Bette J. Caan, Hermann Brenner, Stéphane Bézieau, Sonja I. Berndt, John A. Baron, Carolyn M. Hutter, Conghui Qu, Linda T. Hiraki
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ee813a03ecae8d83ebd7d91fae06949Test
https://doi.org/10.1158/1055-9965.c.6515443.v1Test -
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المؤلفون: Andrew T. Chan, Ulrike Peters, Peter Kraft, Brent W. Zanke, Kana Wu, Emily White, Jean Wactawski-Wende, Martha L. Slattery, Daniela Seminara, Fredrick R. Schumacher, Robert E. Schoen, John D. Potter, Kimmie Ng, Polly A. Newcomb, Hongmei Nan, JoAnn E. Manson, Jing Ma, Mathieu Lemire, Loic Le Marchand, Sébastien Küry, Mark A. Jenkins, Thomas J. Hudson, John L. Hopper, Michael Hoffmeister, Brian Henderson, Aditi Hazra, Richard B. Hayes, Tabitha A. Harrison, Edward L. Giovannucci, Steven Gallinger, Charles S. Fuchs, David Duggan, David V. Conti, Stephen J. Chanock, Jenny Chang-Claude, Graham Casey, Bette J. Caan, Hermann Brenner, Stéphane Bézieau, Sonja I. Berndt, John A. Baron, Carolyn M. Hutter, Conghui Qu, Linda T. Hiraki
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d9938dbf87ee38a89c66f31f3b2681dTest
https://doi.org/10.1158/1055-9965.22436506.v1Test -
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المؤلفون: Ulrike Peters, Thomas J. Hudson, Andrew T. Chan, Stéphane Bézieau, Li Hsu, John D. Potter, Bette J. Caan, Richard B. Hayes, Sonja I. Berndt, Stephen J. Chanock, Robert E. Schoen, Rebecca D. Jackson, Ross L. Prentice, Andrea Z. LaCroix, Charles Kooperberg, Polly A. Newcomb, Emily White, Cornelia M. Ulrich, Jing Ma, Bernd Frank, Hermann Brenner, Brent W. Zanke, Steven Gallinger, David J. Hunter, Peter Kraft, Aditi Hazra, Edward Giovannucci, Charles S. Fuchs, Sébastien Küry, Michael Hoffmeister, Greg S. Warnick, Deanna L. Stelling, Lin S. Chen, Yan Liu, Tabitha A. Harrison, Shuo Jiao, Jane C. Figueiredo, Jagadish Rangrej, Mathieu Lemire, Hongmei Nan, David Duggan, Yi Lin, Bethann M. Pflugeisen, Martha L. Slattery, Jenny Chang-Claude, Carolyn M. Hutter
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d194db9f9b8cc944c475639d27ee100cTest
https://doi.org/10.1158/0008-5472.22394918Test -
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المؤلفون: Ulrike Peters, Thomas J. Hudson, Andrew T. Chan, Stéphane Bézieau, Li Hsu, John D. Potter, Bette J. Caan, Richard B. Hayes, Sonja I. Berndt, Stephen J. Chanock, Robert E. Schoen, Rebecca D. Jackson, Ross L. Prentice, Andrea Z. LaCroix, Charles Kooperberg, Polly A. Newcomb, Emily White, Cornelia M. Ulrich, Jing Ma, Bernd Frank, Hermann Brenner, Brent W. Zanke, Steven Gallinger, David J. Hunter, Peter Kraft, Aditi Hazra, Edward Giovannucci, Charles S. Fuchs, Sébastien Küry, Michael Hoffmeister, Greg S. Warnick, Deanna L. Stelling, Lin S. Chen, Yan Liu, Tabitha A. Harrison, Shuo Jiao, Jane C. Figueiredo, Jagadish Rangrej, Mathieu Lemire, Hongmei Nan, David Duggan, Yi Lin, Bethann M. Pflugeisen, Martha L. Slattery, Jenny Chang-Claude, Carolyn M. Hutter
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b41d0317e5e65e6ea56db0e3ed554f7bTest
https://doi.org/10.1158/0008-5472.22394924.v1Test -
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المؤلفون: Ulrike Peters, Thomas J. Hudson, Andrew T. Chan, Stéphane Bézieau, Li Hsu, John D. Potter, Bette J. Caan, Richard B. Hayes, Sonja I. Berndt, Stephen J. Chanock, Robert E. Schoen, Rebecca D. Jackson, Ross L. Prentice, Andrea Z. LaCroix, Charles Kooperberg, Polly A. Newcomb, Emily White, Cornelia M. Ulrich, Jing Ma, Bernd Frank, Hermann Brenner, Brent W. Zanke, Steven Gallinger, David J. Hunter, Peter Kraft, Aditi Hazra, Edward Giovannucci, Charles S. Fuchs, Sébastien Küry, Michael Hoffmeister, Greg S. Warnick, Deanna L. Stelling, Lin S. Chen, Yan Liu, Tabitha A. Harrison, Shuo Jiao, Jane C. Figueiredo, Jagadish Rangrej, Mathieu Lemire, Hongmei Nan, David Duggan, Yi Lin, Bethann M. Pflugeisen, Martha L. Slattery, Jenny Chang-Claude, Carolyn M. Hutter
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::128c745bae1bc315cd747b960d8331e8Test
https://doi.org/10.1158/0008-5472.22394909Test -
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المؤلفون: Ulrike Peters, Thomas J. Hudson, Andrew T. Chan, Stéphane Bézieau, Li Hsu, John D. Potter, Bette J. Caan, Richard B. Hayes, Sonja I. Berndt, Stephen J. Chanock, Robert E. Schoen, Rebecca D. Jackson, Ross L. Prentice, Andrea Z. LaCroix, Charles Kooperberg, Polly A. Newcomb, Emily White, Cornelia M. Ulrich, Jing Ma, Bernd Frank, Hermann Brenner, Brent W. Zanke, Steven Gallinger, David J. Hunter, Peter Kraft, Aditi Hazra, Edward Giovannucci, Charles S. Fuchs, Sébastien Küry, Michael Hoffmeister, Greg S. Warnick, Deanna L. Stelling, Lin S. Chen, Yan Liu, Tabitha A. Harrison, Shuo Jiao, Jane C. Figueiredo, Jagadish Rangrej, Mathieu Lemire, Hongmei Nan, David Duggan, Yi Lin, Bethann M. Pflugeisen, Martha L. Slattery, Jenny Chang-Claude, Carolyn M. Hutter
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a355f51ddb6fdeb0c706f1127acdbfffTest
https://doi.org/10.1158/0008-5472.22394930Test