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1Academic Journal
المصدر: Frontiers in Veterinary Science, Vol 10 (2023)
مصطلحات موضوعية: animal welfare, technology, PLF, sow, one welfare, Veterinary medicine, SF600-1100
وصف الملف: electronic resource
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المؤلفون: Gabriella Gazdagh, David Hunt, Anna Maria Cueto Gonzalez, Monserrat Pons Rodriguez, Ayeshah Chaudhry, Marcos Madruga, Fleur Vansenne, Deborah Shears, Aurore Curie, Eva‐Lena Stattin, Britt‐Marie Anderlid, Slavica Trajkova, Elena Sukarova Angelovska, Catherine McWilliam, Philip R. Wyatt, Mary O'Driscoll, Giles Atton, Anke K. Bergman, Pia Zacher, Leena D. Mewasingh, Antonio Gonzalez‐Meneses López, Olga Alonso‐Luengo, Htoo A. Wai, Ottilie Rohde, Pauline Boiroux, Anne Debant, Susanne Schmidt, Diana Baralle
المساهمون: Institut Català de la Salut, [Gazdagh G] Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK. Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. [Hunt D] Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK. [Cueto Gonzalez AM] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Pons Rodriguez M] Hospital Universitari Son Espases, Palma, Illes Balears, Spain. [Chaudhry A] Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, Ontario, Canada. Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada. [Madruga M] Hospital Viamed Santa Angela De la Cruz, Sevilla, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Scientia
مصطلحات موضوعية: enfermedades del sistema nervioso::malformaciones del sistema nervioso [ENFERMEDADES], phenotype, Nervous System Diseases::Nervous System Malformations [DISEASES], fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo [FENÓMENOS Y PROCESOS], macrocephaly, Sistema nerviós - Malalties - Aspectes genètics, Fenotip, spectrin, Anomalies cromosòmiques, GEFD, Genetic Phenomena::Phenotype [PHENOMENA AND PROCESSES], Genetics, TRIO gene, Malformacions, Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense [PHENOMENA AND PROCESSES], microcephaly, Medical Genetics, fenómenos genéticos::fenotipo [FENÓMENOS Y PROCESOS], Genetics (clinical), Medicinsk genetik
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.presentationml.presentation; text
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3Academic Journal
المؤلفون: Priya, Bangalore, R, Berry Ian, John, Livingston, Dan, Warren, J, Nicholl David, Mary, O’Driscoll, Tom, Hayton
مصطلحات موضوعية: Poster session
وصف الملف: text/html
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المؤلفون: Heba Morsy, Mehdi Benkirane, Elisa Cali, Clarissa Rocca, Kristina Zhelcheska, Valentina Cipriani, Evangelia Galanaki, Reza Maroofian, Stephanie Efthymiou, David Murphy, Mary O’Driscoll, Mohnish Suri, Siddharth Banka, Jill Clayton-Smith, Thomas Wright, Melody Redman, Jennifer A. Bassetti, Mathilde Nizon, Benjamin Cogne, Rami Abu Jamra, Tobias Bartolomaeus, Marion Heruth, Ilona Krey, Janina Gburek-Augustat, Dagmar Wieczorek, Felix Gattermann, Meriel Mcentagart, Alice Goldenberg, Lucie Guyant-Marechal, Hector Garcia-Moreno, Paola Giunti, Brigitte Chabrol, Severine Bacrot, Roger Buissonnière, Virginie Magry, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Béla Melegh, András Szabó, Katalin Sümegi, Mireille Cossée, Monica Ziff, Russell Butterfield, David Hunt, Georgina Bird-Lieberman, Michael Hanna, Michel Koenig, Michael Stankewich, Jana Vandrovcova, Henry Houlden, J.C. Ambrose, P. Arumugam, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, A. de Burca, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, J.M. Hackett, D. Halai, A. Hamblin, S. Henderson, J.E. Holman, T.J.P. Hubbard, K. Ibáñez, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki
المساهمون: UCL, Institute of Neurology [London], Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), William Harvey Research Institute, Barts and the London Medical School, Birmingham Women’s and Children’s Hospitals NHS Foundation Trust, Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Manchester Centre for Genomic Medicine [Manchester, UK] (MCGM), St Mary's Hospital Manchester-Manchester Academic Health Science Centre (MAHSC), University of Manchester [Manchester]-University of Manchester [Manchester]-Manchester University NHS Foundation Trust (MFT)-Faculty of Biology, Medicine and Health [Manchester, UK], University of Manchester [Manchester], Manchester University NHS Foundation Trust (MFT), Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Weill Cornell Medicine [New York], 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 Hospital Leipzig, University Hospital Düsseldorf, St George’s University Hospitals, Département de génétique [CHU Rouen] (Centre Normandie de Génomique et de Médecine Personnalisée), CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), University College London Hospitals NHS Foundation Trust [London, UK] (UCLH), Centre Hospitalier de Versailles André Mignot (CHV), Unité de génétique médicale et oncogénétique [CHU Amiens Picardie], CHU Amiens-Picardie, Auteur indépendant, University of Pécs Medical School (UP MS), University of Pecs, Great Ormond Street Hospital for Children NHS Foundation Trust [London, UK] (GOSHC), University of Utah School of Medicine [Salt Lake City], Princess Anne Hospital [Southampton, UK] (PAH), University of Southampton, University Hospital Southampton NHS Foundation Trust, Department of Pathology [Yale], Yale School of Medicine [New Haven, Connecticut] (YSM), H.M., J.V., and H.H. are supported by an Medical Research Council strategic award, MR/S005021/1, to establish International Centre for Genomic Medicine in Neuromuscular Diseases. H.M. is supported by Wellcome Trust grant 220906/Z/20/Z. H.H. is funded by the Medical Research Council (MR/S01165X/1, MR/S005021/1, G0601943), NIHR University College London Hospitals Biomedical Research Centre, Rosetree Trust UK, Ataxia UK, Multiple System Atrophy Trust, Brain Research UK, Sparks GOSH Charity, Muscular Dystrophy UK, and Multiple System Atrophy Trust. R.But. is supported by the Penelope Rare and Undiagnosed Disease Program at the University of Utah with funding from the Center for Genomic Medicine and with support from Matt Velinder (Department of Human Genetics, University of Utah) and Rong Mao and Pinar Bayrak-Toydemir (ARUP Laboratories). B.M. is supported by NKFIH K138669. This research was made possible through access to the data and findings generated by the 100,000 Genomes Project. The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The 100,000 Genomes Project is funded by the National Institute for Health and Care Research and NHS England. The Wellcome Trust, Cancer Research UK, and the Medical Research Council have also funded the research infrastructure. The 100,000 Genomes Project uses data provided by patients and collected by the National Health Service as part of their care and support. This study makes use of data generated by the DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER) community. A full list of centers which contributed to the generation of the data is available at https://deciphergenomics.org/about/stats and via email from contact@deciphergenomics.org. Funding for the DECIPHER project was provided by Wellcome. We are thankful to the Deciphering Developmental Disorders Study for the invaluable collaboration. The Deciphering Developmental Disorders Study (Cambridge South Research Ethics Committee approval 10/H0305/83 and the Republic of Ireland Research Ethics Committee GEN/284/12) presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and Department of Health and the Wellcome Trust Sanger Institute (grant number WT098051), MORNET, Dominique, Nottingham University Hospitals NHS Trust (NUH), Weill Cornell Medicine [Cornell University], Cornell University [New York]
المصدر: Genetics in Medicine
Genetics in Medicine, 2022, ⟨10.1016/j.gim.2022.09.013⟩
Queen Square Genomics 2023, ' Expanding SPTAN1 monoallelic variant associated disorders : From epileptic encephalopathy to pure spastic paraplegia and ataxia ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 1, pp. 76-89 . https://doi.org/10.1016/j.gim.2022.09.013مصطلحات موضوعية: [SDV] Life Sciences [q-bio], Developmental delay, [SDV]Life Sciences [q-bio], Hereditary spastic paraplegia, Genetics (clinical), Hereditary ataxia, SPTAN1, Developmental epileptic encephalopathy
وصف الملف: application/pdf
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المؤلفون: Calvin Soh, Sophie Calvert, Ram L. Kumar, Isabelle Desguerre, Kevin Talbot, Evangeline Wassmer, Axel Panzer, Andrea Berger, Anna de Burca, Anu Jacob, Andrea Whitney, Andrew P. Badrock, Frances Gibbon, Shelley MacDonald, Rhys H. Thomas, Reza Maroofian, Heather Burnett, Elizabeth Jones, Thomas Blauwblomme, Francois V. Bolduc, Jamal Ghoumid, Mickaël Ferrand, Yanick J. Crow, Emma M. Jenkinson, Camilo Toro, Diana Chiang, Roseline Caumes, Gillian I. Rice, Gemma Fisher, Gopinath M. Subramanian, Edoardo Monfrini, Renaud Touraine, Hilde T. Hilmarsen, Sarju G. Mehta, Imelda Hughes, Sumit Parikh, Edward Blair, Mary O'Driscoll, Sarah Dyack, Himanshu Goel, Kristin W. Barañano, Prab Prabhakar, Luis Seabra, Roberta Battini, John H. Livingston, Russell P. Saneto, Richard J. Leventer, Katrin Õunap, Heather Marshall, Andy Cheuk Him Ng, Duccio Maria Cordelli, Natasha Demic, Daniela Neumann, Natalie Boddaert, Michael J. Noetzel, S. Richard Dunham, Ehsan Ghayoor Karimiani, Johannes A. Buckard, Frances Elmslie, Raymond T. O'Keefe, Chloe A Stutterd, Richard Sandford, Imke Metz, Francis Ramond, Liesbeth De Waele, Alessio Di Fonzo, Emma Wakeling, David B. Clifford
المساهمون: Crow Y.J., Marshall H., Rice G.I., Seabra L., Jenkinson E.M., Baranano K., Battini R., Berger A., Blair E., Blauwblomme T., Bolduc F., Boddaert N., Buckard J., Burnett H., Calvert S., Caumes R., Ng A.C.-H., Chiang D., Clifford D.B., Cordelli D.M., de Burca A., Demic N., Desguerre I., De Waele L., Di Fonzo A., Dunham S.R., Dyack S., Elmslie F., Ferrand M., Fisher G., Karimiani E.G., Ghoumid J., Gibbon F., Goel H., Hilmarsen H.T., Hughes I., Jacob A., Jones E.A., Kumar R., Leventer R.J., MacDonald S., Maroofian R., Mehta S.G., Metz I., Monfrini E., Neumann D., Noetzel M., O'Driscoll M., Ounap K., Panzer A., Parikh S., Prabhakar P., Ramond F., Sandford R., Saneto R., Soh C., Stutterd C.A., Subramanian G.M., Talbot K., Thomas R.H., Toro C., Touraine R., Wakeling E., Wassmer E., Whitney A., Livingston J.H., O'Keefe R.T., Badrock A.P.
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, 030105 genetics & heredity, Gene mutation, ribosomopathy, Compound heterozygosity, Genetic analysis, Loss of heterozygosity, Leukoencephalopathy, Consanguinity, Leukoencephalopathies, Pathology, Molecular, Child, Zebrafish, Genetics (clinical), Genetics, Molecular pathology, C/D box snoRNA U8, coats plus, Labrune syndrome, leukoencephalopathy with calcifications and cysts, SNORD118, Calcinosis, Middle Aged, 3. Good health, Child, Preschool, Female, Adult, Heterozygote, Adolescent, coats plu, Biology, Young Adult, 03 medical and health sciences, medicine, Animals, Humans, RNA, Small Nucleolar, Genetic Association Studies, Aged, leukoencephalopathy with calcifications and cyst, Infant, Newborn, Infant, medicine.disease, Disease Models, Animal, 030104 developmental biology
وصف الملف: STAMPA
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المؤلفون: Diana Walsh, Graeme R. Clark, Ezequiel Martin, Neil V. Morgan, Louise Tee, Hannah Titheradge, Evan Reid, Mary O'Driscoll, Eamonn R. Maher, Bryndis Yngvadottir
المساهمون: Martin, Ezequiel [0000-0002-0051-8868], Reid, Evan [0000-0003-1623-7304], Maher, Eamonn R [0000-0002-6226-6918], Apollo - University of Cambridge Repository
المصدر: Brain Communications
مصطلحات موضوعية: 0301 basic medicine, Genetics, cerebral palsy, business.industry, General Engineering, autosomal recessive, medicine.disease, inherited, Cerebral palsy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Spastic cerebral palsy, Genetic linkage, Paralysis, Spastic, Missense mutation, Medicine, Original Article, medicine.symptom, business, 030217 neurology & neurosurgery, Loss function, Exome sequencing
وصف الملف: application/pdf
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المؤلفون: Tuula Rinne, Karen Low, Vijaya Ramachandran, Johanna C. Herkert, Michael Parker, Meena Balasubramanian, Helen Cox, Andrew E. Fry, Erica H. Gerkes, Deborah A Sival, Meriel McEntagart, Isabelle Marey, Mary O'Driscoll, Bert Callewaert, Perrine Charles, Fleur Vansenne, Suzanne Drury, Angela Barnicoat, Boris Keren, Wen-Hann Tan, Thabo M. Yates, Morgan Drucker
المساهمون: Movement Disorder (MD)
المصدر: Human Mutation, 41, 1042-1050
Human Mutation, 41(5), 1042-1050. Wiley
Human Mutation, 41, 5, pp. 1042-1050مصطلحات موضوعية: Male, ZMYND11, Genotype, Depressed nasal bridge, behavioral symptoms, Cell Cycle Proteins, Haploinsufficiency, Biology, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Intellectual disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, TRANSCRIPTION, Child, Gene, Alleles, Genetic Association Studies, Genetics (clinical), seizures, 030304 developmental biology, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], DELETION, 030305 genetics & heredity, Brachydactyly, Facies, Syndrome, gene expression regulation, medicine.disease, zinc fingers, GENE, Phenotype, Hypotonia, Nonsense Mediated mRNA Decay, DNA-Binding Proteins, intellectual disability, Child, Preschool, Mutation, Anteverted nares, Female, medicine.symptom, Co-Repressor Proteins
وصف الملف: application/pdf
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المؤلفون: Duncan Street, David Nicholl, Malcolm Taylor, Mary O'Driscoll
المصدر: Neurol Clin Pract
مصطلحات موضوعية: Ataxia, business.industry, Case, Late onset, Disease, Phenotype, digestive system diseases, Text mining, Immunology, Medicine, Neurology (clinical), Differential diagnosis, medicine.symptom, business
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المؤلفون: Cecilia Compton, Mary O'Driscoll, Sian Jenkins, Rhona MacLeod, Angus John Clarke, Nayana Lahiri, Oliver W. Quarrell, Hannah Musgrave, Alan Fryer, Patrick J. Morrison, Martine J. van Belzen, Christine E. M. de Die-Smulders, Zosia Miedzybrodzka, Corien C. Verschuuren-Bemelmans, Mark Strong, Emilia K. Bijlsma, Sascha Vermeer
المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica
المصدر: American Journal of Medical Genetics Part B-neuropsychiatric Genetics, 177(1), 35-39. Wiley
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 177(1), 35-39. Wiley
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 177(1), 35-39مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, ONSET CONDITIONS, Local authority, Disease, 030105 genetics & heredity, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Huntington's disease, children, ADOLESCENTS, Humans, Medicine, Genetic Testing, Predictive testing, Genetics (clinical), Netherlands, Pregnancy, teenagers, business.industry, CAG, STATEMENT, medicine.disease, United Kingdom, genetic tests, Minors, Psychiatry and Mental health, Huntington Disease, Family medicine, Female, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: M. Gonçalves da Rocha, Nathalie Boddaert, John H. Livingston, Yanick J. Crow, Isabelle Desguerre, Rima Nabbout, Stefano D'Arrigo, Mary O'Driscoll, Gillian I. Rice, Gabriela Soares, Emma M. Jenkinson
المصدر: Clinical Genetics. 93:228-234
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Mutation, Progressive microcephaly, Basal ganglia calcification, Anatomy, Biology, medicine.disease, Occludin, medicine.disease_cause, 03 medical and health sciences, 030104 developmental biology, Gene duplication, Genetics, medicine, Polymicrogyria, Copy-number variation, Genetics (clinical), Calcification
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المؤلفون: Claire Miller, Nayana Lahiri, Angus John Clarke, Daniela Rae, C. Lynch, David Craufurd, Sally Morton, Alison Lashwood, Karen Doye, Charlotte Tomlinson, Huw Dorkins, Mary O'Driscoll, Peter D. Turnpenny, Raul E. Piña-Aguilar, Zosia Miedzybrodzka, Sheila A Simpson, Abdulrahman Alshatti, Oliver Quarrell, Mark Strong
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 21(7)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Offspring, Population, Prenatal diagnosis, Disease, Preimplantation genetic diagnosis, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, medicine, Humans, Prospective Studies, Medical diagnosis, education, Genetics (clinical), Preimplantation Diagnosis, education.field_of_study, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, business.industry, United Kingdom, Huntington Disease, Amniocentesis, Female, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Basil Paul, Yong Xu, Guo-Lian Ding, Yan Kong, Ddd study, Qi Wu, Xinguo Hou, Wenjun Zhou, Atteeq U. Rehman, Sungguan Hong, Yanlin He, John Dean, Wenxian Zhou, Zhandong Liu, Pengfei Liu, Chuhan Wang, Zheng Sun, Emmanuel Scalais, Hari Krishna Yalamanchili, Ying-Wooi Wan, Mary O'Driscoll, Hao Liu, Jenny Morton, Yingyun Gong, Qingchun Tong
المصدر: Nature neuroscience
مصطلحات موضوعية: 0301 basic medicine, Lateral hypothalamus, Databases, Factual, Hypothalamus, Mice, Transgenic, Hippocampal formation, Biology, Article, 03 medical and health sciences, Mice, 0302 clinical medicine, Memory, Intellectual Disability, Neural Pathways, medicine, Animals, Nuclear Receptor Co-Repressor 1, Nuclear Receptor Co-Repressor 2, GABAergic Neurons, Nuclear receptor co-repressor 1, Memory Disorders, Neuronal Plasticity, GABAA receptor, General Neuroscience, Excitatory Postsynaptic Potentials, Long-term potentiation, Receptors, GABA-A, CA3 Region, Hippocampal, 030104 developmental biology, medicine.anatomical_structure, nervous system, Synaptic plasticity, GABAergic, Neuron, Neuroscience, 030217 neurology & neurosurgery
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المؤلفون: Zhandong Liu, Jenny Morton, Qingchun Tong, Wenxian Zhou, Yong Xu, Zheng Sun, Yan Kong, Hao Liu, Atteeq U. Rehman, Emmanuel Scalais, Yingyun Gong, Ddd study, Chuhan Wang, Basil Paul, Guo-Lian Ding, Hari Krishna Yalamanchili, Wenjun Zhou, Xinguo Hou, Yanlin He, Qi Wu, Ying-Wooi Wan, Mary O'Driscoll, John Dean, Sungguan Hong, Pengfei Liu
المصدر: Nature Neuroscience. 22:1533-1533
مصطلحات موضوعية: American diabetes association, Scholarship, General Neuroscience, Published Erratum, Library science, Psychology, Neuroscience, Sentence
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المؤلفون: Olafur T. Magnusson, Markus Storbeck, Andrea Delle Vedove, Brunhilde Wirth, Irmgard Hölker, Raoul Heller, Bart Loeys, Katta M. Girisha, Mary O’Driscoll, Malavika Hebbar, Sebahattin Cirak, Anju Shukla
المصدر: The American journal of human genetics
مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Pathology, Turkey, medicine.disease_cause, Mechanotransduction, Cellular, Ion Channels, 0302 clinical medicine, Ptosis, Missense mutation, Pakistan, Child, Connective Tissue Diseases, Genetics (clinical), Genetics, Arthrogryposis, Sanger sequencing, Mutation, Ophthalmoplegia, Homozygote, Pedigree, Muscular Atrophy, Scoliosis, Child, Preschool, symbols, Female, medicine.symptom, Adult, medicine.medical_specialty, Contracture, Adolescent, Mutation, Missense, India, Libya, Biology, Blepharophimosis, Polymorphism, Single Nucleotide, Perinatal respiratory distress, Frameshift mutation, 03 medical and health sciences, symbols.namesake, Young Adult, Atrophy, Report, medicine, Humans, Abnormalities, Multiple, Alleles, Muscle contracture, Respiratory Distress Syndrome, Newborn, Proprioception, business.industry, Correction, medicine.disease, Human genetics, Arachnodactyly, 030104 developmental biology, Human medicine, business, 030217 neurology & neurosurgery, Genome-Wide Association Study
وصف الملف: pdf
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المؤلفون: Eric Rider, Elliott H. Sherr, Mari Wakahiro, Zoe Strominger, Graeme C.M. Black, Jiang Li, Polina Bukshpun, Mary O'Driscoll, William B. Dobyns, Elena Boland, Cailyn H. Spurrell, Nathan C. Osbun, Wendy Schackwitz, Len A. Pennacchio
المصدر: American Journal of Medical Genetics Part A. 155:1865-1876
مصطلحات موضوعية: Male, Candidate gene, Adolescent, Molecular Sequence Data, Mutation, Missense, Nerve Tissue Proteins, Genome-wide association study, Biology, Corpus callosum, Polymorphism, Single Nucleotide, Article, Corpus Callosum, Mice, Exon, DISC1, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Amino Acid Sequence, Child, Agenesis of the corpus callosum, Genetics (clinical), Chromosomal Deletion, Splice site mutation, Sequence Analysis, DNA, medicine.disease, Chromosomes, Human, Pair 1, Child, Preschool, biology.protein, Female, Wolff-Parkinson-White Syndrome, Agenesis of Corpus Callosum, Chromosome Deletion, Sequence Alignment, Genome-Wide Association Study
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المؤلفون: Forbes D C Manson, Kathleen J. Millen, Alexander Waite, Mirja Somer, Mary O'Driscoll, Kate Chandler
المصدر: American Journal of Medical Genetics Part A. :2390-2393
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Developmental Disabilities, DNA Mutational Analysis, Fingers, Central nervous system disease, Cerebellar Diseases, Cerebellum, Intellectual Disability, Myopia, Genetics, Humans, Medicine, Obesity, Child, Genetics (clinical), Cohen syndrome, business.industry, Retinal Degeneration, Infant, Newborn, Brain, Infant, medicine.disease, Magnetic Resonance Imaging, Hypoplasia, Cerebellar diseases, Microcephaly, Muscle Hypotonia, Cerebellar hypoplasia (non-human), business
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المؤلفون: Mary O'Driscoll, Clarie Peckham, Bronwyn Kerr
المصدر: Clinical Dysmorphology. 17:255-258
مصطلحات موضوعية: Amniotic Band, Adhesion (medicine), Pathology and Forensic Medicine, Constriction, Mice, Gene duplication, Deformity, medicine, Animals, Humans, Syndactyly, Genetics (clinical), Skin tags, Scalp, business.industry, Infant, General Medicine, Anatomy, medicine.disease, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Skin Abnormalities, Female, medicine.symptom, business
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المؤلفون: I Chris Lloyd, Graeme C.M. Black, Simon C Ramsden, Jill Clayton-Smith, Mary O'Driscoll, Emma McCann, Naomi L. Bowers, Emma Burkitt Wright, Rahat Perveen
المصدر: British Journal of Ophthalmology. 94:386-388
مصطلحات موضوعية: Genetics, Microcephaly, Splice site mutation, biology, Microphthalmia-associated transcription factor, medicine.disease, Phenotype, Microphthalmia, eye diseases, Sensory Systems, Cellular and Molecular Neuroscience, Ophthalmology, biology.protein, Eye development, medicine, Cancer research, sense organs, PAX6, Sonic hedgehog
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المؤلفون: Oliver Quarrell, Sian Jenkins, Rachael Cann, Hannah Musgrave, Mary O'Driscoll, Angus John Clarke, Alan Fryer, Rhona MacLeod, Zosia Miedzybrodzka, Nayana Lahiri, Celia Compton
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 87:A76.1-A76
مصطلحات موضوعية: Psychiatry and Mental health, Huntington's disease, Feature (computer vision), medicine, Surgery, Neurology (clinical), Minor (academic), Psychology, Predictive testing, medicine.disease, Clinical psychology, Test (assessment)
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المؤلفون: Elliott H. Sherr, Graeme C.M. Black, William B. Dobyns, Jill Clayton-Smith, Mary O'Driscoll
المصدر: American journal of medical genetics. Part A. (9)
مصطلحات موضوعية: Microcephaly, Locus (genetics), Biology, Corpus callosum, behavioral disciplines and activities, Gene mapping, Genetics, medicine, Polymicrogyria, Humans, Genetic Predisposition to Disease, Copy-number variation, Agenesis of the corpus callosum, Genetics (clinical), Chromosome Aberrations, Corpus Callosum Agenesis, Genome, Human, Data Collection, Chromosome Mapping, Syndrome, medicine.disease, Aicardi Syndrome, stomatognathic diseases, nervous system, Genetic Loci, Mutation, psychological phenomena and processes
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