المؤلفون: Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan, Anika Lindsey, Omar Itani, Amber L. Böhme, Debora Tibbe, Hans-Hinrich Hönck, Fatemeh Hassani Nia, Undiagnosed Diseases Network, Michael Zech, Theresa Brunet, Laurence Faivre, Arthur Sorlin, Antonio Vitobello, Thomas Smol, Cindy Colson, Kristin Baranano, Krista Schatz, Allan Bayat, Kelly Schoch, Rebecca Spillmann, Erica E. Davis, Erin Conboy, Francesco Vetrini, Konrad Platzer, Sonja Neuser, Janina Gburek-Augustat, Alexandra Noel Grace, Bailey Mitchell, Alexander Stegmann, Margje Sinnema, Naomi Meeks, Carol Saunders, Maxime Cadieux-Dion, Juliane Hoyer, Julien Van-Gils, Jean-Madeleine de Sainte-Agathe, Michelle L. Thompson, E. Martina Bebin, Monika Weisz-Hubshman, Anne-Claude Tabet, Alain Verloes, Jonathan Levy, Xenia Latypova, Sönke Harder, Gary A. Silverman, Stephen C. Pak, Tim Schedl, Kathleen Freson, Andrew Mumford, Ernest Turro, Christian Schlein, Vandana Shashi, Hans-Jürgen Kreienkamp

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/fa7e561bde0647a3a38569265135f1c2

المؤلفون: Daniel S. Levic, Donna Niedzwiecki, Apoorva Kandakatla, Norah S. Karlovich, Arjun Juneja, Jieun Park, Christina Stolarchuk, Shanté Adams, Jason R. Willer, Matthew R. Schaner, Grace Lian, Caroline Beasley, Lindsay Marjoram, Ann D. Flynn, John F. Valentine, Jane E. Onken, Shehzad Z. Sheikh, Erica E. Davis, Kimberley J. Evason, Katherine S. Garman, Michel Bagnat

المصدر: Gastro Hep Advances, Vol 3, Iss 7, Pp 888-898 (2024)

مصطلحات موضوعية: Epigenetics, Methylation, Inflammatory Bowel Disease, Anit-TNF Response, Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2772572324000918; https://doaj.org/toc/2772-5723

URL الوصول: https://doaj.org/article/5c811e8cbcfe49d3801475d29dc0ac64

المؤلفون: Laura J. Grange, John J. Reynolds, Farid Ullah, Bertrand Isidor, Robert F. Shearer, Xenia Latypova, Ryan M. Baxley, Antony W. Oliver, Anil Ganesh, Sophie L. Cooke, Satpal S. Jhujh, Gavin S. McNee, Robert Hollingworth, Martin R. Higgs, Toyoaki Natsume, Tahir Khan, Gabriel Á. Martos-Moreno, Sharon Chupp, Christopher G. Mathew, David Parry, Michael A. Simpson, Nahid Nahavandi, Zafer Yüksel, Mojgan Drasdo, Anja Kron, Petra Vogt, Annemarie Jonasson, Saad Ahmed Seth, Claudia Gonzaga-Jauregui, Karlla W. Brigatti, Alexander P. A. Stegmann, Masato Kanemaki, Dragana Josifova, Yuri Uchiyama, Yukiko Oh, Akira Morimoto, Hitoshi Osaka, Zineb Ammous, Jesús Argente, Naomichi Matsumoto, Constance T.R.M. Stumpel, Alexander M. R. Taylor, Andrew P. Jackson, Anja-Katrin Bielinsky, Niels Mailand, Cedric Le Caignec, Erica E. Davis, Grant S. Stewart

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/bfe3845b80824c5996d10d21e1575e9d

المؤلفون: Chuyi Chen, Yuyang Gu, Julien Philippe, Peiran Zhang, Hunter Bachman, Jinxin Zhang, John Mai, Joseph Rufo, John F. Rawls, Erica E. Davis, Nicholas Katsanis, Tony Jun Huang

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/26c1153a5c4342ae841c0823cce84d2b

المؤلفون: Gerard W. Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, Yayoi Ikawa, Karsten Boldt, Asaf Ta-Shma, Isabella Aprea, Katsura Minegishi, Yuan-Ping Pang, Petra Pennekamp, Niki T. Loges, Johanna Raidt, Rim Hjeij, Julia Wallmeier, Huda Mussaffi, Zeev Perles, Orly Elpeleg, Franziska Rabert, Hidetaka Shiratori, Stef J. Letteboer, Nicola Horn, Samuel Young, Timo Strünker, Friederike Stumme, Claudius Werner, Heike Olbrich, Katsuyoshi Takaoka, Takahiro Ide, Wang Kyaw Twan, Luisa Biebach, Jörg Große-Onnebrink, Judith A. Klinkenbusch, Kavita Praveen, Diana C. Bracht, Inga M. Höben, Katrin Junger, Jana Gützlaff, Sandra Cindrić, Micha Aviram, Thomas Kaiser, Yasin Memari, Petras P. Dzeja, Bernd Dworniczak, Marius Ueffing, Ronald Roepman, Kerstin Bartscherer, Nicholas Katsanis, Erica E. Davis, Israel Amirav, Hiroshi Hamada, Heymut Omran

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-20 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/ab0a6ca10924497e88909fc70b971840

المؤلفون: Yu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, Sujata Srikanth, Nicola A. Thompson, Mercedes Pardo, Lu Yu, Joy W. Norris, Yunhui Peng, Karen W. Gripp, Kirk A. Aleck, Chumei Li, Ed Spence, Tae-Ik Choi, Soo Jeong Kwon, Hee-Moon Park, Daseuli Yu, Won Do Heo, Marie R. Mooney, Shahid M. Baig, Ingrid M. Wentzensen, Aida Telegrafi, Kirsty McWalter, Trevor Moreland, Chelsea Roadhouse, Keri Ramsey, Michael J. Lyons, Cindy Skinner, Emil Alexov, Nicholas Katsanis, Roger E. Stevenson, Jyoti S. Choudhary, David J. Adams, Cheol-Hee Kim, Erica E. Davis, Charles E. Schwartz

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-17 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/63052a3b677a4732a00742387ae8a8ff

المؤلفون: Vanessa Cristina de Oliveira, Kelly Cristine Santos Roballo, Clésio Gomes Mariano Junior, Sarah Ingrid Pinto Santos, Fabiana Fernandes Bressan, Marcos Roberto Chiaratti, Elena J. Tucker, Erica E. Davis, Jean-Paul Concordet, Carlos Eduardo Ambrósio

المصدر: Life, Vol 12, Iss 1, p 22 (2021)

مصطلحات موضوعية: CRISPR-Cas9, gene editing, HEK293T cells, mitochondrial DNA, TFAM, Science

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-1729/12/1/22; https://doaj.org/toc/2075-1729

URL الوصول: https://doaj.org/article/ba98cf7b15844c6ab5ba0822093eeee9

المؤلفون: Oc-Hee Kim, Hyun-Ju Cho, Enna Han, Ted Inpyo Hong, Krishan Ariyasiri, Jung-Hwa Choi, Kyu-Seok Hwang, Yun-Mi Jeong, Se-Yeol Yang, Kweon Yu, Doo-Sang Park, Hyun-Woo Oh, Erica E. Davis, Charles E. Schwartz, Jeong-Soo Lee, Hyung-Goo Kim, Cheol-Hee Kim

المصدر: Molecular Autism, Vol 8, Iss 1, Pp 1-14 (2017)

مصطلحات موضوعية: Autism, Down syndrome, Knockout, Zebrafish, DYRK1A, Social interaction, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13229-017-0168-2; https://doaj.org/toc/2040-2392

URL الوصول: https://doaj.org/article/120c1b3258934f90a1f3b645eae8db88

المؤلفون: Benjamin M. Helm, Jason R. Willer, Azita Sadeghpour, Christelle Golzio, Eric Crouch, Samantha Schrier Vergano, Nicholas Katsanis, Erica E. Davis

المصدر: Human Genomics, Vol 11, Iss 1, Pp 1-14 (2017)

مصطلحات موضوعية: Skeletal ciliopathy, Conorenal dysplasia, Intraflagellar transport, Zebrafish, Whole exome sequencing, Heterodisomy, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40246-017-0111-9; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/6faf41debfe14c3ab19a3ff6ca1ee35e

المؤلفون: Marie R. Mooney, Erica E. Davis, Nicholas Katsanis

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: CRISPR-Cas9, zebrafish, exome, de novo mutation, off-target effect, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.00949/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/2dc3129156a44abd90af21f60f88f459

المؤلفون: Yuqi Qiu, Thomas Arbogast, Sandra Martin Lorenzo, Hongying Li, Shih C. Tang, Ellen Richardson, Oanh Hong, Shawn Cho, Omar Shanta, Timothy Pang, Christina Corsello, Curtis K. Deutsch, Claire Chevalier, Erica E. Davis, Lilia M. Iakoucheva, Yann Herault, Nicholas Katsanis, Karen Messer, Jonathan Sebat

المصدر: Cell Reports, Vol 28, Iss 13, Pp 3320-3328.e4 (2019)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221112471931126X; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/0bd3dfb14b7c4ee782858365d116b4aa

المؤلفون: Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/22bd7d5adfdc431187d2dc80408e8af0

المؤلفون: Margaret F. Lippincott, Wanxue Xu, Abigail A. Smith, Xinyu Miao, Agathe Lafont, Omar Shennib, Gordon J. Farley, Riwa Sabbagh, Angela Delaney, Maria Stamou, Lacey Plummer, Kathryn Salnikov, Neoklis A. Georgopoulos, Veronica Mericq, Richard Quinton, Frederic Tran Mau-Them, Sophie Nambot, Asma Hamad, Helen Brittain, Rebecca S. Tooze, Eduardo Calpena, Andrew O.M. Wilkie, Marjolaine Willems, William F. Crowley, Ravikumar Balasubramanian, Nathalie Lamarche-Vane, Erica E. Davis, Stephanie B. Seminara

المصدر: Genetics in Medicine. 24:2501-2515

مصطلحات موضوعية: Gonadotropin-Releasing Hormone, Repressor Proteins, Hypogonadism, GTPase-Activating Proteins, Animals, Humans, Guanine Nucleotide Exchange Factors, Zebrafish, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a3cce5412ed78cc1a00576d2114ea97
https://doi.org/10.1016/j.gim.2022.08.025

المؤلفون: Dina Ahram, Yangfan P. Liu, Rik Westland, Rosemary V. Sampogna, Simone Sanna-Cherchi, Erica E. Davis, Nicholas Katsanis, Kamal Khan

المصدر: Kidney Int
Khan, K, Ahram, D F, Liu, Y P, Westland, R, Sampogna, R V, Katsanis, N, Davis, E E & Sanna-Cherchi, S 2022, ' Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations ', Kidney International, vol. 101, no. 3, pp. 473-484 . https://doi.org/10.1016/j.kint.2021.09.034

مصطلحات موضوعية: Genetics, DNA Copy Number Variations, Genetic heterogeneity, Urinary system, Genomics, Biology, Kidney, Penetrance, Article, Nephrology, Multidisciplinary approach, Missing heritability problem, Urogenital Abnormalities, Inheritance Patterns, Humans, Copy-number variation, Urinary Tract

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3b39f16fd00c78c9056630c2939d582
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85123718115&origin=inward

المؤلفون: Joseph L Bundy, Blair R Anderson, Ludmila Francescatto, Melanie E Garrett, Karen L Soldano, Marilyn J Telen, Erica E Davis, Allison E Ashley-Koch

المصدر: PLoS ONE, Vol 14, Iss 6, p e0217042 (2019)

مصطلحات موضوعية: Medicine, Science

Relation: https://doi.org/10.1371/journal.pone.0217042; https://doaj.org/toc/1932-6203; https://doaj.org/article/ef5f0f7699e041f1847316ab35c51e5d

الاتاحة: https://doi.org/10.1371/journal.pone.0217042
https://doaj.org/article/ef5f0f7699e041f1847316ab35c51e5d

المؤلفون: Farid Ullah, Nicholas Katsanis, Sheraz Khan, Sijie He, Katrina M. Bell, Shabnam Bakhshalizadeh, Waqar Rauf, Andrew H. Sinclair, Erica E. Davis, Elena J. Tucker, Kamal Khan, Vanessa Cristina de Oliveira, Philippe Touraine, Shahid Mahmood Baig, Muhammad Tariq

المصدر: Human Genetics. 140:1733-1751

مصطلحات موضوعية: Genetics, Mitochondrial DNA, biology, Genetic heterogeneity, Mitochondrial disease, TFAM, Mitochondrion, biology.organism_classification, medicine.disease, medicine, Missense mutation, Zebrafish, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1aab077617005285eb81f440acc579f7
https://doi.org/10.1007/s00439-021-02380-2

المؤلفون: Verena Klämbt, Youying Mao, Vimla Aggarwal, Arang Kim, Friedhelm Hildebrandt, Mohamad A. Mikati, Vandana Shashi, Anne H. O’Donnell-Luria, Vaidehi Jobanputra, Jeremiah Martino, Vivette D. D'Agati, Minxian Wang, Marcus R. Benz, Shoji Yano, Janine Altmüller, Ali G. Gharavi, Florian Buerger, Enrico Fiaccadori, Richard P. Lifton, Bodo B. Beck, Amy Kolb, Mordi Muorah, David Goldstein, Nina Mann, Martin R. Pollak, Dina Ahram, Heidi Cope, Gian Marco Ghiggeri, Jillian S. Parboosingh, Asmaa S. AbuMaziad, Kamal Khan, Ana C. Onuchic-Whitford, Louise Bier, Emma Pierce-Hoffman, Jonathan E. Zuckerman, Shrikant Mane, Moin A. Saleem, Amar J. Majmundar, Heidi L. Rehm, Ora Yadin, Erin L. Heinzen, Gina Y. Jin, Christelle Moufawad El Achkar, Konstantin Deutsch, Julia Hoefele, Ania Koziell, Gianluca Caridi, Talha Gunduz, Agnieszka Bierzynska, Korbinian M. Riedhammer, Monica Bodria, Ronen Schneider, Julian A. Martinez-Agosto, Thomas M. Kitzler, Shirlee Shril, Ulrike John-Kroegel, Howard Trachtman, Adele Mitrotti, Eleanor G. Seaby, Amanda V. Tyndall, Isabella Pisani, Patricia L. Weng, Tze Y Lim, A. Micheil Innes, John Musgrove, Simone Sanna-Cherchi, Erica E. Davis

المصدر: Am J Hum Genet

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, medicine.medical_specialty, Nephrotic Syndrome, Developmental Disabilities, 030232 urology & nephrology, Neurogenetics, Nerve Tissue Proteins, Biology, Kidney, Cell Line, Mice, 03 medical and health sciences, Exon, 0302 clinical medicine, Focal segmental glomerulosclerosis, Report, Exome Sequencing, Genetics, medicine, Animals, Humans, Child, Exome, Genetics (clinical), Exome sequencing, Epilepsy, Glomerulosclerosis, Focal Segmental, Podocytes, medicine.disease, 3. Good health, Phenotype, 030104 developmental biology, Codon, Nonsense, Child, Preschool, Mutation, Medical genetics, Female, Intranuclear Space, Carrier Proteins, Nephrotic syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7969111fa124c459f42b18f37374a18
https://doi.org/10.1016/j.ajhg.2021.01.008

المؤلفون: Corinne Stoetzel, Richard Redon, Erica E. Davis, Véronique Geoffroy, Jean-Louis Mandel, Georgios Kellaris, Samuel Nicaise, Joakim Klar, Clarisse Delvallée, Anne Sophie Leuvrey, Florence Demurger, Manuela Antin, Emmanuelle Génin, Boris Keren, Nicholas Katsanis, Niklas Dahl, Sophie Scheidecker, Elsa Nourisson, Jean Muller, Hélène Dollfus, Jean-François Deleuze, Christel Depienne, Michèle Mathieu-Dramard, Christine Poitou-Bernert, Carmen C. Leitch, Koenraad Devriendt, Sylvie Odent

المساهمون: Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Les Hôpitaux Universitaires de Strasbourg (HUS), Ann & Robert H. Lurie Children's Hospital of Chicago, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institute of Human Genetics - Institut für Humangenetik [Essen], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen)-Universitat Duisberg-Essen, Uppsala University, Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Université de Nantes (UN), Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA), Center for Human Genetics, University of Leuven School of Medicine, SCHOOL of MEDICINE [Louvain], Université Catholique de Louvain = Catholic University of Louvain (UCL)-Université Catholique de Louvain = Catholic University of Louvain (UCL), CHU Amiens-Picardie, Nutrition et obésités: approches systémiques (UMR-S 1269) (Nutriomics), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), 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 ), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Northwestern University Feinberg School of Medicine, Agence Nationale de la Recherche, Grant/Award Number: Les Espoirs de l'Université de Strasbourg 2018, CREGEMES, Grant/Award Number: WGS 2016, Fondation pour la Recherche Médicale, Grant/Award Number: ECO20170637509, US National Institutes of Health grants, Grant/Award Numbers: DK072301, GM121317, HD042601, Chard-Hutchinson, Xavier, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Nutrition et obésités: approches systémiques (nutriomics) (UMR-S 1269 INSERM - Sorbonne Université), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)

المصدر: Clinical Genetics
Clinical Genetics, 2021, 99 (2), pp.318-324. ⟨10.1111/cge.13878⟩
Clin Genet
Clinical Genetics, Wiley, 2021, 99 (2), pp.318-324. ⟨10.1111/cge.13878⟩

مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Retroelements, BBS1, [SDV]Life Sciences [q-bio], Population, Medizin, 030105 genetics & heredity, Biology, Article, Cohort Studies, 03 medical and health sciences, Exon, Gene Frequency, Bardet–Biedl syndrome, Mobile element insertion, Bardet-Biedl syndrome, Genetics, medicine, Humans, Allele, SVA F, education, Genetics (clinical), Medicinsk genetik, education.field_of_study, Whole Genome Sequencing, Polydactyly, medicine.disease, Pedigree, [SDV] Life Sciences [q-bio], Mutagenesis, Insertional, Ciliopathy, founder effect, 030104 developmental biology, Female, Microtubule-Associated Proteins, Medical Genetics, Founder effect

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64ddc094f8785aeef3cd86a4c4833e5f
https://doi.org/10.1111/cge.13878

المؤلفون: Dan Doherty, Nadine Bachmann, Rachel H. Giles, Erica E. Davis, Asbjørn Holmgren, Dulika S. Sumathipala, Barbara Käsmann-Kellner, Lokuliyange D S Senaratne, Suzanne Crowley, Sebastian Patzke, Nicholas Katsanis, Petter Strømme, Daniel Epting, Christian Decker, Kari-Anne M Frikstad, Carsten Bergmann, Manuela Zucknick, Diana Bracht, Tuva Barøy, Elisabeth Ott, Eva Decker, Soeren S. Lienkamp, Doriana Misceo, Ian G. Phelps, Heymut Omran, Miriam Schmidts, Alma Sikiric, Selma Mujezinovic Larsen, Julia Wallmeier, Eirik Frengen

المصدر: Human Mutation

مصطلحات موضوعية: Male, Pathology, Ciliopathies, whole exome sequencing, CBY1, Cerebellum, Eye Abnormalities, Child, Research Articles, Zebrafish, Genetics (clinical), Exome sequencing, 0303 health sciences, Polydactyly, Cilium, Homozygote, 030305 genetics & heredity, Nuclear Proteins, Kidney Diseases, Cystic, Magnetic Resonance Imaging, Smoothened Receptor, Pedigree, 3. Good health, Phenotype, Child, Preschool, primary cilia defect, Female, medicine.symptom, Research Article, medicine.medical_specialty, Adolescent, Biology, Retina, Joubert syndrome, Young Adult, 03 medical and health sciences, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Cilia, 030304 developmental biology, Cerebellar ataxia, Genetic heterogeneity, Infant, Newborn, Infant, Fibroblasts, medicine.disease, Ciliopathy, ciliopathy, Mutation, Carrier Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff060a6ff69fa03ce10682a61d2879e7
https://doi.org/10.1002/humu.24127

المؤلفون: Jill A. Rosenfeld Mokry, Shamil R. Sunyaev, Erica E. Davis, Niki Mourtzi, Maria Kousi, Richard A. Lewis, Michael E. Talkowski, Azita Sadeghpour, Onuralp Soylemez, Maxim Y Wolf, Manolis Kellis, Nicholas Katsanis, Christopher A. Cassa, Jean Muller, Kelsey McFadden, Irwin Jungreis, Sebastian Akle, Aysegul Ozanturk, Hélène Dollfus, Harrison Brand

المصدر: Nature Genetics. 52:1145-1150

مصطلحات موضوعية: Nonsynonymous substitution, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, 0303 health sciences, education.field_of_study, Population, Biology, medicine.disease, Genetic architecture, 03 medical and health sciences, Ciliopathy, symbols.namesake, 0302 clinical medicine, medicine, Mendelian inheritance, symbols, Epistasis, Allele, education, Gene, 030217 neurology & neurosurgery, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::18771b0748c82bdd25071e7ff47aff4c
https://doi.org/10.1038/s41588-020-0707-1