نتائج البحث - "Nicola S. Cooper"

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 Genetics

مصطلحات 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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4

Vitamin A and micronutrient deficiencies post-bariatric surgery: aetiology, complications and management in a complex multiparous pregnancy

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f0ddf42937e290f32f418bd8247a42b
https://doi.org/10.1038/s41430-018-0224-9

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5

PURA syndrome

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 Genetics

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fcc3e535bef1e7cac59493465bbec17
https://doi.org/10.1136/jmedgenet-2017-104946

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6

Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy

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)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62882e2bf190b1371c0ac653bc84dc75
https://pubmed.ncbi.nlm.nih.gov/33590706

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7

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

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)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37fdb259d76373a0c2bcc556140a6646
https://pubmed.ncbi.nlm.nih.gov/30666632

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8

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

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. 64-74

مصطلحات 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