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1دورية أكاديمية
المؤلفون: Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino
المصدر: The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
مصطلحات موضوعية: Cell biology, Genetics, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1558-8238
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2Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation
المؤلفون: Gabriela Jones, Cheryl Stopford, Elisabeth Rosser, Katrina Merrifield, Henrietta Lefroy, Nicola S. Cooper, Lauren M Cairns, Sarah Buston, Andrew G L Douglas, Asma Hamad, Andrea H. Németh, Simon Holden, Julia Rankin, Vani Jain, Megan Rogers
المصدر: Journal of Medical Genetics. 59:544-548
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pediatrics, Genetic counseling, Genetic Counseling, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Dementia, Genetic Testing, Motor Neuron Disease, Predictive testing, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, Neurodegenerative Diseases, medicine.disease, Penetrance, 030104 developmental biology, Frontotemporal Dementia, Medical genetics, business, Motor neurone disease, 030217 neurology & neurosurgery, Frontotemporal dementia
وصف الملف: text
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المؤلفون: Edward McHale, Francis H. Sansbury, Ronnie Wright, Nicola S. Cooper, Naz Khan, Wim Van Paesschen, Hilde Van Esch, Zerin Hyder, Ataf Sabir, Siddharth Banka, Katherine B. Burke, Kate Chandler
المصدر: Hyder, Z, Van Paesschen, W, Sabir, A, Sansbury, F H, Burke, K B, Khan, N, Chandler, K E, Cooper, N S, Wright, R, McHale, E, Van Esch, H & Banka, S 2021, ' ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy ', European journal of human genetics : EJHG . https://doi.org/10.1038/s41431-021-00815-y
European Journal of Human Geneticsمصطلحات موضوعية: Adult, Male, Biochemistry & Molecular Biology, Genetic testing, Receptor, ErbB-4, animal structures, Adolescent, Haploinsufficiency, Epileptogenesis, Article, Receptor tyrosine kinase, 03 medical and health sciences, Epilepsy, Exon, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Child, Genetics (clinical), ERBB4, 030304 developmental biology, Genetics & Heredity, 0303 health sciences, Science & Technology, biology, business.industry, Neurodevelopmental disorders, Chromosome abnormality, Exons, medicine.disease, Pedigree, Chromosomes, Human, Pair 2, biology.protein, Female, Neural crest cell migration, business, Life Sciences & Biomedicine, Gene Deletion, 030217 neurology & neurosurgery
وصف الملف: application/pdf; Print-Electronic
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac65b51c5ec9bbbb38d082ed449862c7
https://www.research.manchester.ac.uk/portal/en/publications/erbb4-exonic-deletions-on-chromosome-2q34-in-patients-with-intellectual-disability-or-epilepsy(98162d49-0074-4597-b05c-1b2ce568204c).html -
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المؤلفون: William L. Martin, Louise J. Whitticase, Nicola S. Cooper, Sheldon C. Cooper, Amanda Smith, Fiona L. Mackie
المصدر: European Journal of Clinical Nutrition. 72:1176-1179
مصطلحات موضوعية: Adult, 0301 basic medicine, Vitamin, Pediatrics, medicine.medical_specialty, Anemia, Iron, Perinatal Death, Medicine (miscellaneous), Gestational Age, 030209 endocrinology & metabolism, Abortion, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Pregnancy, Humans, Medicine, Micronutrients, Obesity, Vitamin A, 030109 nutrition & dietetics, Nutrition and Dietetics, Anemia, Iron-Deficiency, Vitamin A Deficiency, business.industry, Smoking, Infant, Newborn, Gestational age, Biliopancreatic Diversion, medicine.disease, Micronutrient, Diet, Abortion, Spontaneous, Pregnancy Complications, Vitamin A deficiency, Fetal Diseases, Vitamin B 12, chemistry, Etiology, Premature Birth, Female, business
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المؤلفون: Ceciel Van Hoeckel, Nicola S. Cooper, Rob P.W. Rouhl, Jeff L. Waugh, David Hunt, Dierk Niessing, Ton van Essen, Jolanda H. Schieving, Margo Whiteford, Maaike Vreeburg, Roger Foo, Christoffer Nellåker, Petra Laššuthová, Connie T.R.M. Stumpel, Victoria Mok Siu, Alexander P.A. Stegmann, Katinke Van Dijk, Servi J. C. Stevens, Jan Maarten Cobben, Levinus A. Bok, Paulo Selber, Katalin Sterbova, Rolph Pfundt, Han G. Brunner, Angeline H. M. Lai, Robert Janowski, Tuula Lönnqvist, Pirjo Isohanni, Jill Clayton-Smith, Diana Baralle, Sarah F. Smithson, Shelley Williams, Dorit Lev, Jana Neupauerová, Karen S. Carvalho, Margot R.F. Reijnders, Virginia Clowes, James J. Dowling, Ene-Choo Tan, Kate Chandler, Sahar Mansour, Andrew Green, Marc Engelen, Julia Rankin, Sotirios Keros, Mohsan Alvi, Jay E. Self, Eric Smeets, Ilene S. Ruhoy, Richard J. Leventer, Mel Anderson, Sofia Douzgou
المصدر: Paediatrics Publications
Journal of Medical Genetics, 55, 2, pp. 104-113
Journal of Medical Genetics, 55, 104-113
J. Med. Genet. 55, 104-113 (2017)
Journal of Medical Geneticsمصطلحات موضوعية: 0301 basic medicine, Pediatrics, Bioinformatics, 5Q31.3 MICRODELETION SYNDROME, POSTNATAL BRAIN-DEVELOPMENT, epilepsy and seizures, Epilepsy, Neurodevelopmental disorder, Pregnancy, Intellectual disability, Drosophila Proteins, Eye Abnormalities, Exome, Genetics (clinical), Sanger sequencing, Syndrome, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Hypotonia, 3. Good health, DNA-Binding Proteins, Phenotypes, PURA syndrome, intellectual disability, Cohort, symbols, Muscle Hypotonia, Female, medicine.symptom, medicine.medical_specialty, GENES, PATIENT, 03 medical and health sciences, symbols.namesake, REVEALS, Genetics, medicine, Humans, hypotonia, Genetic Association Studies, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Infant, Newborn, medicine.disease, ALPHA, 030104 developmental biology, Neonatal hypotonia, Structural Homology, Protein, Face, Mutation, Pura Syndrome, Epilepsy And Seizures, Intellectual Disability, Neonatal Problems, business, neonatal problems, Transcription Factors
وصف الملف: application/pdf; text; image
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المؤلفون: Nicola S. Cooper, Boris Keren, Jane Juusola, Melissa Lees, Meena Balasubramanian, Farah Kanani, Laura Pisani, Katherine Lachlan, Carolyn McKenna, Hannah Titheradge, Frances Elmslie, Stéphanie Valence, Cyril Mignot
المصدر: American journal of medical genetics. Part AREFERENCES. 182(4)
مصطلحات موضوعية: Male, Candidate gene, Heterozygote, Adolescent, Mutation, Missense, Epilepsy, symbols.namesake, Genetics, medicine, Missense mutation, Humans, Child, Exome, Genetics (clinical), Exome sequencing, Genetic Association Studies, Sanger sequencing, business.industry, medicine.disease, 14-3-3 Proteins, Neurodevelopmental Disorders, Child, Preschool, Epilepsy syndromes, symbols, Female, business, Haploinsufficiency, Epileptic Syndromes
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المؤلفون: Josh Willoughby, Jenny Morton, Meena Balasubramanian, Francis H. Sansbury, Julie Vogt, Elizabeth A. Jones, Rory O'Sullivan, Jill Clayton-Smith, Sarah E. Turton, Helen Cox, Nicola S. Cooper, Katherine Lachlan, Julia Rankin, Frances Elmslie, Jessica A. Radley, Sarah F. Smithson
المصدر: Clinical genetics. 95(4)
مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, Pediatrics, medicine.medical_specialty, Germline mosaicism, 030105 genetics & heredity, 03 medical and health sciences, Epilepsy, Intellectual disability, Exome Sequencing, Genetics, medicine, Guanine Nucleotide Exchange Factors, Humans, Genetic Predisposition to Disease, Child, Genetics (clinical), Alleles, Genetic Association Studies, business.industry, Facies, Genetic Variation, Infant, Twins, Monozygotic, medicine.disease, Hypotonia, 030104 developmental biology, Phenotype, Amino Acid Substitution, Child, Preschool, Autism, Female, medicine.symptom, business, Brachycephaly, Developmental regression
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المؤلفون: Rolph Pfundt, Sarju G. Mehta, Amy Lawson Yuen, Gunnar Houge, Marie-Cécile Nassogne, Nicola S. Cooper, Bjørn Ivar Haukanes, Ingvild Aukrust, Siren Berland, Pradeep Vasudevan, Mónica Roselló, Stéphanie Moortgat, Nina Powell-Hamilton, Charlotte von der Lippe, Barbara van Loon, Ruth Newbury-Ecob, Alain Verloes, Laura A. Baker, Trine Prescott, Andrew O.M. Wilkie, Emma Wakeling, Ddd Study, Isabelle Maystadt, Francisco Martínez, Laurence Faivre, Alfonso Caro-Llopis, Karen J. Low, Emma Kivuva, François-Guillaume Debray, Thatjana Gardeitchik, Louise C. Wilson, Christine Verellen-Dumoulin, Valérie Benoit
المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique
المصدر: European Journal of Human Genetics, 26, 64-74
European Journal of Human Genetics, Vol. 26, no. 1, p. 64-74 (2018)
EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
European Journal of Human Genetics, 26, 1, pp. 64-74مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, X-linked intellectual disability, Ubiquitin-Protein Ligases, Mutation, Missense, Short stature, Article, Craniosynostosis, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Intellectual Disability, Intellectual disability, Obligate carrier, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), X chromosome, Genes, Dominant, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Tumor Suppressor Proteins, Genetic Diseases, X-Linked, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Syndrome, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Dermatology, 030104 developmental biology, Speech delay, Female, medicine.symptom, business
وصف الملف: application/pdf
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المؤلفون: Helen Linden, Fredrik Karpe, Simon A. Rudge, Nicola S. Cooper, Thomas M. Barber, Martijn van de Bunt, Michael J.O. Wakelam, Lisa Walker, Qifeng Zhang, Jonathan C. Levy, Katherine Lachlan, Aparna Pal, Anna L. Gloyn
المصدر: New England Journal of Medicine
New England Journal of Medicine; Vol 367مصطلحات موضوعية: Adult, Leptin, Male, medicine.medical_specialty, Population, Type 2 diabetes, Haploinsufficiency, Article, Body Mass Index, 03 medical and health sciences, 0302 clinical medicine, Insulin resistance, Internal medicine, Neoplasms, medicine, PTEN, Tensin, Humans, Obesity, education, 030304 developmental biology, Aged, 0303 health sciences, education.field_of_study, biology, Adiponectin, business.industry, PTEN Phosphohydrolase, General Medicine, Glucose Tolerance Test, Middle Aged, medicine.disease, 3. Good health, Insulin receptor, Endocrinology, Adipose Tissue, Diabetes Mellitus, Type 2, 030220 oncology & carcinogenesis, Cancer research, biology.protein, Female, Insulin Resistance, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ace8f12564e17834302a3582bb87df5f
https://ora.ox.ac.uk/objects/uuid:f879e40f-b1ce-4bd8-9f8a-9b05e619160a -
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المؤلفون: Kamlesh Khunti, Melanie J. Davies, Laura J. Gray, Nicola S. Cooper, Hamidreza Mani, Felix A. Achana
المصدر: PLoS ONE, Vol 10, Iss 9, p e0135702 (2015)
PLoS ONEمصطلحات موضوعية: medicine.medical_specialty, Science, Type 2 diabetes, Cochrane Library, Risk Factors, Internal medicine, Diabetes mellitus, medicine, Credible interval, Humans, Mass Screening, Blood test, Mass screening, Response rate (survey), Multidisciplinary, medicine.diagnostic_test, business.industry, Glucose Tolerance Test, medicine.disease, 3. Good health, Endocrinology, Diabetes Mellitus, Type 2, Meta-analysis, Medicine, business, Research Article, RC
وصف الملف: application/pdf