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1دورية أكاديمية
المؤلفون: Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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المؤلفون: Tom Le Voyer, Adrian Gervais, Jérémie Rosain, Audrey Parent, Axel Cederholm, Darawan Rinchai, Lucy Bizien, Gonca Hancioglu, Quentin Philippot, Mame Sokhna Gueye, Majistor Raj Luxman, Maglorius Renkilaraj, Masato Ogishi, Camille Soudée, Mélanie Migaud, Flore Rozenberg, Mana Momenilandi, Quentin Riller, Luisa Imberti, Ottavia Delmonte, Gabriele Müller, Bärbel Keller, Julio Orrego, William Alexander Gallego, Tamar Rubin, Melike Emiroglu, Nima Parvaneh, Daniel Eriksson, Maribel Aranda-Guillen, David I Berrios, Linda Vong, Connie H Katelaris, Peter Mustillo, Johannes Rädler, Jonathan Bohlen, Jale Bengi Celik, Camila Astudillo, Sarah Winter, Audrey Guichard, Vivien Béziat, Jacinta Bustamante, Qiang Pan-Hammarström, Yu Zhang, Lindsey B Rosen, Steve M Holland, Heather Kenney, Kaan Boztuğ, Nizar Mahlaoui, Sylvain Latour, Roshini Abraham, Vassilios Lougaris, Fabian Hauck, Anna Sediva, Faranaz Atschekzei, M Cecilia Poli, Mary A Slatter, Boaz Palterer, Michael D Keller, Alberto Pinzon-Charry, Anna Sullivan, Luke Droney, Daniel Suan, Nathalie Aladjidi, Miguel Hie, Estibaliz Lazaro, Jose Franco, Sevgi Keles, Marion Malphette, Marlene Pasquet, Maria Elena Maccari, Andrea Meinhardt, Aydan Ikinciogullari, Mohammad Shahrooei, Fatih Celmeli, Patrick Frosk, Christopher C Goodnow, Paul E Gray, Alexandre Belot, Hye Sun Kuehn, Sergio D Rosenzweig, Francesco Licciardi, Amélie Servettaz, Vincent Barlogis, Guillaume Le Guenno, Vera-Maria Herrmann, Taco Kuijpers, Grégoire Ducoux, Françoise Sarrot-Reynauld, Catharina Schuetz, Charlotte Cunningham-Rundles, Frédéric Rieux-Laucat, Stuart G Tangye, Cristina Sobacchi, Rainer Doffinger, Klaus Warnatz, Bodo Grimbacher, Claire Fieschi, Laureline Berteloot, Vanessa Bryant, Sophie Trouillet Assant, Luigi D Notarangelo, Helen Su, Benedicte Neven, Laurent Abel, Qian Zhang, Bertrand Boisson, Aurélie Cobat, Emmanuelle Jouanguy, Olle Kampe, Paul Bastard, Chaim Roifman, Nils Landegren, Mark S Anderson, Jean-Laurent Casanova, Anne Puel
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::eb3fe31795f551fbeac7e72b123ffd53
https://doi.org/10.22541/au.167330741.18394805/v1 -
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المؤلفون: Kym M. Boycott, Lyndon Gallacher, Aziz Mhanni, Simon Sadedin, Xiaomin Dong, Kristin D. Kernohan, Arran McBride, Ismaël Alidou-D'Anjou, John Christodoulou, Zornitza Stark, Aren E Marshall, François Dragon, Samantha E Marin, Patrick Frosk, Marc R. Del Bigio, Sophie Sleiman
المصدر: Human Molecular Genetics. 31:614-624
مصطلحات موضوعية: Genetics, Dystonia, Saccharomyces cerevisiae Proteins, Neurodegeneration, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Saccharomyces cerevisiae, General Medicine, Biology, medicine.disease, Compound heterozygosity, Phenotype, Dystonic Disorders, medicine, Humans, Small nucleolar RNA, RRNA processing, Molecular Biology, Genetics (clinical), Exome sequencing, Ribonucleoprotein
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6876a2f473d6b0271228df3c24e60761
https://doi.org/10.1093/hmg/ddab247 -
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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 Groupمصطلحات 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
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المؤلفون: Danielle C. Lynch, Jia Wang, Aurora Pujol, Henry Houlden, Diana Castro, Xiaodong Wang, Jan Senderek, Shade B. Moody, Melissa Gibbons, Tim M. Strom, Abigail Collins, Jong Hee Chae, John Landers, Udai Bhan Pandey, Tyler R. Fortuna, Reza Maroofian, Hannah R. McCurry, Andrea H. Németh, Yuehua Zhang, Nathalie Boddaert, Carsten G. Bönnemann, Sabine Rudnik-Schöneborn, Vincent Cantagrel, Kali Juliette, Jeanne Amiel, Amber Begtrup, Sangmoon Lee, David Schorling, Chanika Phornphutkul, Konrad Platzer, E. Corina Andriescu, Roser Urreizti, Eric N. Anderson, Cyril Gitiaux, Randal Richardson, Maha S. Zaki, Matias Wagner, Hasnaa M. Elbendary, Dhivyaa Rajasundaram, Brian Kirmse, Murim Choi, Sandra Donkervoort, Joseph G. Gleeson, Steffen Leiz, Mahmoud Y. Issa, Valentina Stanley, Patrick Frosk, Siri Lynne Rydning, Karine Siquier, Janbernd Kirschner, Sameer Agnihotri, Sarah S. Barnett, Isabelle Desguerre, Michele Yang, Yong Beom Shin, Deepa S. Rajan, Margot A. Cousin, Andrés Nascimento Osorio, A. Micheil Innes, Ying Yang, Elliot S. Stolerman, Youngha Lee, Kimberly McDonald, Alberto Garcia-Oguiza, Edgard Verdura, Caroline Ward, Maria J. Guillen Sacoto, Minghui Wang, Sukhleen Kour, Kaja Kristine Selmer
المصدر: NATURE COMMUNICATIONS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Nature Communications
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Universidad de Alicante (UA)
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, General Physics and Astronomy, 0302 clinical medicine, Neurodevelopmental disorder, Loss of Function Mutation, RNA-Seq, Neurons, Regulation of gene expression, Myoclonic Cerebellar Dyssynergia, Multidisciplinary, Neurodevelopmental disorders, Developmental disorders, Rigor Mortis, Gene Expression Regulation, Developmental, SMN Complex Proteins, Ribonucleoproteins, Small Nuclear, Hypotonia, Pedigree, Cell biology, medicine.anatomical_structure, Child, Preschool, Gene Knockdown Techniques, Muscle Hypotonia, Drosophila, Female, medicine.symptom, Ataxia, Science, Induced Pluripotent Stem Cells, Biology, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, medicine, Animals, Humans, snRNP, Amino Acid Sequence, Alleles, Loss function, Cerebellar ataxia, General Chemistry, Motor neuron, medicine.disease, Gene Ontology, HEK293 Cells, 030104 developmental biology, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Michael S. Salman, Aoife O’Carroll, Tyler Peikes, Patrick Frosk
المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 48:435-437
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Microcephaly, Neurology, business.industry, Epileptic encephalopathy, Mutation (genetic algorithm), Medicine, Neurology (clinical), General Medicine, business, medicine.disease
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7Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2
المؤلفون: Paul M. K. Gordon, Ruping Chen, Patrick Frosk, Stephanie Clarke, Davinder S. Jassal, Nelly Abdelfatah, Colette M. Seifer, Cathleen Huculak, Brenda Gerull, Henry J. Duff, Robin Clegg, Carole Ober, Ilan Buffo
المصدر: JACC: Basic to Translational Science
مصطلحات موضوعية: 0301 basic medicine, Premature aging, Pathology, medicine.medical_specialty, EMD, emerin, LEMD2, ACM, arrhythmogenic cardiomyopathy, Population, PBS, phosphate-buffered saline, Cardiomyopathy, sudden death, SAHF, senescence-associated heterochromatin foci, 030204 cardiovascular system & hematology, Sudden death, inner nuclear membrane, LMNA, lamin A/C, chromatin remodeling, Sudden cardiac death, PRECLINICAL RESEARCH, 03 medical and health sciences, DNA, deoxyribonucleic acid, 0302 clinical medicine, CMR, cardiac magnetic resonance, Fibrosis, medicine, education, DCM, dilated cardiomyopathy, LV, left ventricular, education.field_of_study, LGE, late gadolinium enhancement, BANF, barrier to autointegration factor, SNV, single nucleotide variant, business.industry, Dilated cardiomyopathy, medicine.disease, ICD, implantable cardioverter-defibrillator, DAPI, 4′,6′-diamidino-2-phenylindole, dilated cardiomyopathy, P, passage, 030104 developmental biology, medicine.anatomical_structure, eGFP, enhanced green fluorescent protein, Ventricle, NE, nuclear envelope, Cardiology and Cardiovascular Medicine, business, LEMD2, LEM domain containing protein 2
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المؤلفون: Christian Staufner, Dominic Lenz, Michael Huber, Ulrich Baumann, Lennart Opitz, Neveen A. Soliman, Raif S. Geha, Hundeep Kaur, Christian Klemann, Verena Klämbt, Sebastian Hiller, Matias Wagner, Jana Pachlopnik Schmid, Janet Chou, Andreas Klein-Franke, Danil Koovely, Chris Fraser, Karsten Häffner, Tommaso Marchetti, Michael T. Gabbett, Heike Olbrich, Christina Kessler, Matthias Griese, Tayfun Güngör, Michael F. Buckley, Veronika Haunerdinger, Craig D. Platt, George Elakis, Sabrina Weeks, Martin Schwemmle, Stefano Vavassori, Friedhelm Hildebrandt, Seraina Prader, Guido F. Laube, Megan Elkins, Laura Faletti, Abduarahman Almutairi, Patrick Frosk, Charlotte Gimpel, Luise A. Schuch, Maria Elena Maccari, Xianfei Gao, Pascal Joset, Stephan Ehl, Maria Forstner, Raimund Kottke, Tamar S. Rubin, Tony Roscioli, Simone Reu-Hofer, Raquel Planas, Thomas Kaiser, Achim Weber, Steffen Hartleif, Sandra von Hardenberg, Ying Zhu, Ekkehard Sturm, Barbara Brotschi, Julia Hoefele, Solange Moll, Heymut Omran
المصدر: J Allergy Clin Immunol
مصطلحات موضوعية: Male, 0301 basic medicine, Primary Immunodeficiency Diseases, Immunology, Article, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, Immune system, Antigens, Neoplasm, Interferon, Exome Sequencing, medicine, Humans, Immunology and Allergy, Genetic Predisposition to Disease, Child, 610 Medicine & health, Immunodeficiency, Inflammation, business.industry, RIG-I, Interferon-stimulated gene, Infant, MDA5, medicine.disease, 030104 developmental biology, Virus Diseases, Child, Preschool, 030220 oncology & carcinogenesis, TLR3, Female, business, medicine.drug
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d09fe2f0c0593526f54e768cea0df692
https://edoc.unibas.ch/86552/ -
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المؤلفون: Denny Schanze, Sandra L. Marles, Trilochan Sahoo, Jing Liu, Karine Hovanes, Patrick Frosk, Aziz Mhanni, Albert E. Chudley, A. J. Dawson, Martin Zenker, Cheryl R. Greenberg
المصدر: Clinical dysmorphology. 30(2)
مصطلحات موضوعية: Male, Heterozygote, Trigonocephaly, Pathology and Forensic Medicine, Craniosynostosis, 03 medical and health sciences, Craniosynostoses, medicine, Missense mutation, Humans, Fraser syndrome, Genetics (clinical), Alleles, Genetic Association Studies, 030304 developmental biology, Sequence Deletion, Genetics, 0303 health sciences, Comparative Genomic Hybridization, business.industry, 030305 genetics & heredity, General Medicine, Receptors, Interleukin, medicine.disease, Penetrance, Phenotype, Pediatrics, Perinatology and Child Health, FRAS1, Female, Disease Susceptibility, Anatomy, Dominant inheritance, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a672d372a584e7a70b227a87ca8a769
https://pubmed.ncbi.nlm.nih.gov/33038106 -
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المؤلفون: Kevin E. Shopsowitz, Mehul Sharma, Tamar S. Rubin, Catherine M. Biggs, Henry Y. Lu, John J. Priatel, Patrick Frosk, Yu-Hsuan Huang, Stuart E. Turvey
المصدر: Pediatric Allergy and Immunology. 29:663-668
مصطلحات موضوعية: 0301 basic medicine, Functional validation, business.industry, Immunology, CARD11, Computational biology, medicine.disease, DNA sequencing, 03 medical and health sciences, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Primary immunodeficiency, Immunology and Allergy, Medicine, business, Exome sequencing