المؤلفون: Doriana Misceo, Lokuliyanage Dona Samudita Senaratne, Inger-Lise Mero, Arvind Y. M. Sundaram, Pål Marius Bjørnstad, Krzysztof Szczałuba, Piotr Gasperowicz, Benjamin Kamien, Bård Nedregaard, Asbjørn Holmgren, Petter Strømme, Eirik Frengen

المصدر: Genes, Vol 14, Iss 11, p 1985 (2023)

مصطلحات موضوعية: CENPF, ciliopathy, intestinal atresia, LR-WGS, structural variant, Strømme syndrome, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/14/11/1985Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/63e34196d874492491e09b2cd2449afeTest

المؤلفون: Timo Lassmann, Richard W. Francis, Alexia Weeks, Dave Tang, Sarra E. Jamieson, Stephanie Broley, Hugh J. S. Dawkins, Lauren Dreyer, Jack Goldblatt, Tudor Groza, Benjamin Kamien, Cathy Kiraly-Borri, Fiona McKenzie, Lesley Murphy, Nicholas Pachter, Gargi Pathak, Cathryn Poulton, Amanda Samanek, Rachel Skoss, Jennie Slee, Sharron Townshend, Michelle Ward, Gareth S. Baynam, Jenefer M. Blackwell

المصدر: npj Genomic Medicine, Vol 5, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2056-7944Test

الوصول الحر: https://doaj.org/article/811cb355cf5b4897b431fd467c9f3752Test

المؤلفون: Jessica L. Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R. Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Care4Rare Canada Consortium, Tracy Dudding-Byth, Kym M. Boycott

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)

مصطلحات موضوعية: Human phenotype ontologies, Congenital non-progressive spinocerebellar ataxia, Spinocerebellar ataxia type 29, SCA29, Cerebellar atrophy, ITPR1, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-017-0672-7Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/6eab3bb9f75d4cc9bb50e592a22f156aTest

المؤلفون: Royston Ong, Samantha Edwards, Denise Howting, Benjamin Kamien, Karen Harrop, Gianina Ravenscroft, Mark Davis, Michael Fietz, John Beilby, Nigel Laing

المصدر: BMJ Open, Vol 9, Iss 6 (2019)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

العلاقة: https://bmjopen.bmj.com/content/9/6/e028209.fullTest; https://doaj.org/toc/2044-6055Test

الوصول الحر: https://doaj.org/article/896d65aa1a3944d7b095928b00743c61Test

المؤلفون: Dora Batia Dyne Steel, Federica Rachele Danti, Mohamed Abunada, Benjamin Kamien, Sony Malhotra, Maya Topf, Marios Kaliakatsos, Jane Valentine, Andrea Hilary Nemeth, Sandeep Jayawant, Kimberley M. Reid, Kshitij Mankad, Sniya Sudhakar, Hilla Ben-Pazi, Katy Barwick, Manju A. Kurian

المصدر: Neurology. 100:e2214-e2223

مصطلحات موضوعية: Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1dce8e916ac3e27864a32d62742d16c2Test
https://doi.org/10.1212/wnl.0000000000207241Test

المؤلفون: Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J.M. Dingemans, Dick Schijven, Christoffer Nellaker, Hanka Venselaar, Galuh D.N. Astuti, Tahsin Stefan Barakat, E. Martina Bebin, Stefanie Beck-Wödl, Gea Beunders, Natasha J. Brown, Theresa Brunet, Han G. Brunner, Philippe M. Campeau, Goran Čuturilo, Christian Gilissen, Tobias B. Haack, Irina Hüning, Ralf A. Husain, Benjamin Kamien, Sze Chern Lim, Luca Lovrecic, Janine Magg, Ales Maver, Valancy Miranda, Danielle C. Monteil, Charlotte W. Ockeloen, Lynn S. Pais, Vasilica Plaiasu, Laura Raiti, Christopher Richmond, Angelika Rieß, Eva M.C. Schwaibold, Marleen E.H. Simon, Stephanie Spranger, Tiong Yang Tan, Michelle L. Thompson, Bert B.A. de Vries, Ella J. Wilkins, Marjolein H. Willemsen, Clyde Francks, Lisenka E.L.M. Vissers, Simon E. Fisher, Tjitske Kleefstra

المساهمون: Clinical Genetics, MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine

المصدر: Genetics in Medicine, 24(6), 1283-1296. Lippincott Williams & Wilkins
Genetics in Medicine, 24(6), 1283-1296. Nature Publishing Group
Genetics in Medicine, 24, 1283-1296
Genetics in Medicine, 24, 6, pp. 1283-1296
Genetics in Medicine

مصطلحات موضوعية: Neuroinformatics, Heterozygote, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], DNA Helicases, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Syndrome, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], CHD3, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Reduced penetrance, Phenotype, All institutes and research themes of the Radboud University Medical Center, RARE, SDG 3 - Good Health and Well-being, Neurodevelopmental disorder, Neurodevelopmental Disorders, Variable expressivity, Humans, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Genetics (clinical), Mi-2 Nucleosome Remodeling and Deacetylase Complex, Inherited variants

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c634fbbfbfe9fc61dcffebf9b78acf3Test
https://doi.org/10.1016/j.gim.2022.02.014Test

المؤلفون: Benjamin Kamien, Joshua S. Clayton, Han-Shin Lee, Disna Abeysuriya, Elyshia McNamara, Jelena Martinovic, Marie Gonzales, Judith Melki, Gianina Ravenscroft

المصدر: Neuromuscular Disorders. 32:445-449

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::104f4e17e35223fd2310e851fe8139f1Test
https://doi.org/10.1016/j.nmd.2022.03.007Test

المؤلفون: Glen D. Thomson, Olga Calabrese, Hong Cui, Sandra Chantot Bastaraud, Frances Elmslie, Renee Carroll, Agnès Guët, Sandra Whalen, Anne Slavotinek, Thierry Billette de Villemeur, Vishal Kumar, Brian Kirmse, Patrick Yap, Elise Brischoux-Boucher, Florence Riccardi, Jenny Morton, Carroll Jennifer, Jonathan Levy, Manoelle Kossorotoff, Alessandro Mauro Spinelli, Elisabeth Forsythe, Annelies Dheedene, Anne McCabe, Cecile Cieuta Walti, Jozef Gecz, Anne Claude Tabet, Laurent Villard, Cyril Mignot, Kristen V. Truxal, Jessica N. Hartley, Annick Raas-Rothschild, Jillian R Ozmore, Marie Shaw, Jan Liebelt, Delphine Héron, Patrick Frosk, Benjamin Kamien, Jane A. Hurst, Antonella Pini

المساهمون: UF de Génétique Clinique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs, Sorbonne Université (SU), University of Adelaide, Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Université de Sherbrooke (UdeS), Women’s and Children’s Hospital [Adelaide], St George’s University Hospitals, Genetic Health Service New Zealand, Great Ormond Street Hospital for Children NHS Foundation Trust, Partenaires INRAE, University of Mississippi Medical Center (UMMC), Dartmouth Hitchcock Medical Center, University of Modena and Reggio Emilia, Hôpital Robert Debré, Hôpital Louis Mourier - AP-HP [Colombes], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Necker, King-Edward Memorial Hospital, Perth, Australia., Birmingham Women’s and Children’s Hospitals NHS Foundation Trust, Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), Chaim Sheba Medical Center, IRCCS Istituto delle Scienze Neurologiche di Bologna [Bologna, Italy], Ospedale Bellaria [Bologna, Italy], University of Manitoba [Winnipeg], University of California, Ohio State University [Columbus] (OSU), Ghent University Hospital, GeneDx [Gaithersburg, MD, USA], Starship Children's Hospital, University of Auckland [Auckland], Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), NHMRC grants APP1155224 and APP1091593 and Channel 7 Children’s Research Foundation, National Human Genome Research Institute of the National Institutes of Health under Award Number U01HG009599, Gall, Valérie, University of California (UC), ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41431-021-00821-0⟩
European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00821-0⟩
Eur J Hum Genet
European journal of human genetics : EJHG, vol 29, iss 9
European journal of human genetics, 29(9), 1405-1417. Nature Publishing Group

مصطلحات موضوعية: Male, Care4Rare Canada Consortium, [SDV]Life Sciences [q-bio], [SDV.GEN] Life Sciences [q-bio]/Genetics, Deafness, Loss of Function Mutation, Intellectual disability, Genetics research, 2.1 Biological and endogenous factors, Medicine, Missense mutation, Aetiology, Child, Genetics (clinical), Genetics & Heredity, Dystonia, Genetics, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Liver Disease, 030305 genetics & heredity, Neurodevelopmental disorders, Syndrome, Phenotype, Pedigree, 3. Good health, [SDV] Life Sciences [q-bio], Child, Preschool, Medical genetics, Female, medicine.symptom, Adult, medicine.medical_specialty, Adolescent, Clinical Sciences, Mutation, Missense, Asymptomatic, Article, 03 medical and health sciences, Rare Diseases, Clinical Research, Intellectual Disability, Humans, Preschool, Loss function, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Neurosciences, Membrane Proteins, medicine.disease, Brain Disorders, Xq28, Hereditary Central Nervous System Demyelinating Diseases, Mutation, Missense, Digestive Diseases, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::011291833bb314df424ba351fe2dc473Test
http://www.scopus.com/inward/record.url?scp=85101167280&partnerID=8YFLogxKTest

المؤلفون: Sean Massey, Wendy A. Gold, Miya St John, Dean Phelan, Elena Savva, Nicole J Van Bergen, Susan M. White, John Christodoulou, Sze Chern Lim, Michelle C Torres, Alessandra Murgia, Kristin A Rigbye, Simranpreet Kaur, Melanie Marty, Teresa Zhao, Emanuela Leonardi, Bruria Ben-Zeev, Benjamin Kamien, David Coman, Tiong Yang Tan

المصدر: Journal of Genetics and Genomics. 47:650-654

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Microcephaly, Adolescent, CDKL5, Rett syndrome, Biology, MECP2, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Rett Syndrome, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, Molecular Biology, Histone Acetyltransferases, 030304 developmental biology, 0303 health sciences, Stereotypic hand movements, Lysine Acetyltransferases, FORKHEAD BOX G1, medicine.disease, FOXG1, Child, Preschool, Female, Genetic diagnosis, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c96991d5ec2eaaa44197efc6bab7dc7cTest
https://doi.org/10.1016/j.jgg.2020.09.003Test

المؤلفون: Lisa J. Ewans, Andre E. Minoche, Deborah Schofield, Rupendra Shrestha, Clare Puttick, Ying Zhu, Alexander Drew, Velimir Gayevskiy, George Elakis, Corrina Walsh, Lesley C. Adès, Alison Colley, Carolyn Ellaway, Carey-Anne Evans, Mary-Louise Freckmann, Linda Goodwin, Anna Hackett, Benjamin Kamien, Edwin P. Kirk, Michelle Lipke, David Mowat, Elizabeth Palmer, Sulekha Rajagopalan, Anne Ronan, Rani Sachdev, William Stevenson, Anne Turner, Meredith Wilson, Lisa Worgan, Marie-Christine Morel-Kopp, Michael Field, Michael F. Buckley, Mark J. Cowley, Marcel E. Dinger, Tony Roscioli

المصدر: European journal of human genetics : EJHG. 30(10)

مصطلحات موضوعية: Base Sequence, Whole Genome Sequencing, Exome Sequencing, Genetics, Chromosome Mapping, Humans, Exome, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f6f9de4b9af8f6385a7da9953edaf85Test
https://pubmed.ncbi.nlm.nih.gov/35970915Test