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المؤلفون: Emma Wakeling, Jenny Child, Deborah J G Mackay, Miho Ishida, Christopher D. Byrne, Justin H Davies, I. Karen Temple, Oluwakemi Lokulo-Sodipe, Hazel Inskip, Gudrun E. Moore, Angela Fenwick, Lisa Marie Ballard
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, uniparental disomy, Short stature, Epigenesis, Genetic, Impaired glucose tolerance, Genomic Imprinting, Young Adult, Insulin-Like Growth Factor II, parasitic diseases, Genetics, medicine, Humans, Genetics (clinical), Aged, Chromosome 7 (human), business.industry, Silver Russell syndrome, Silver–Russell syndrome, Genotype-Phenotype Correlations, Retrospective cohort study, DNA Methylation, Middle Aged, medicine.disease, Uniparental disomy, Growth hormone treatment, short stature, Silver-Russell Syndrome, Phenotype, Cohort, Quality of Life, Female, RNA, Long Noncoding, medicine.symptom, imprinting, business
وصف الملف: text; image
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4fcf40152ba1c5a1d9381d94b71adf0Test
https://eprints.soton.ac.uk/437350Test/ -
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المؤلفون: Gudrun E. Moore, Miho Ishida, Miguel Alsina Casanova, Julio Moreno Hernando, Franck Court, Ana Monteagudo-Sánchez, Luciana Rodiguez Guerineau, Elisenda Moliner Calderon, David Monk, Carlota Rovira Zurriaga, M. Castañón, Loreto Martorell, Isabel Gazquez Serrano
المصدر: Human Mutation. 38:615-620
مصطلحات موضوعية: 0301 basic medicine, Alveolar capillary dysplasia, Genetics, Non-Mendelian inheritance, Point mutation, Parenteral transmission, Methylation, Biology, medicine.disease, Molecular biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, DNA methylation, medicine, Allele, Genomic imprinting, 030217 neurology & neurosurgery, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::292d054b18e4d55c1970645b03b46342Test
https://doi.org/10.1002/humu.23213Test -
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المؤلفون: Khalid Aldhorae, Franz-Josef Kramer, Hannah Schuenke, Gül Schmidt, Elisabeth Mangold, Johanna Klamt, Janis Stavusis, Heiko Reutter, Rudolf Reiter, Pinar Gültepe, Guntram Borck, Markus M. Nöthen, Andrea Hofmann, Miho Ishida, Bert Braumann, Ruth Raff, Philip Stanier, Nina Ishorst, Baiba Lace, Anne C. Böhmer, Michael Knapp, Alexander Hemprich, Sibylle Brosch, Lina Gölz, Gudrun E. Moore, Ann-Kathrin Hoebel, Peter Tessmann, Rimante Seselgyte, Stefanie Nowak, Kerstin U. Ludwig, Andreas Jäger, Rudolf H. Reich, Thomas Kreusch
المصدر: American journal of human genetics. 98(4)
مصطلحات موضوعية: 0301 basic medicine, Genetic counseling, Cleft Lip, Genome-wide association study, 030105 genetics & heredity, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, 03 medical and health sciences, Open Reading Frames, Polymorphism (computer science), Report, medicine, Genetics, Coding region, Humans, Van der Woude syndrome, Genetics(clinical), Abnormalities, Multiple, Genetic Predisposition to Disease, Allele, Genetics (clinical), Alleles, Mutation, Cysts, Racial Groups, medicine.disease, Lip, Minor allele frequency, Cleft Palate, DNA-Binding Proteins, 030104 developmental biology, Case-Control Studies, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a93973bc5ede729d0f80a6972287667eTest
https://pubmed.ncbi.nlm.nih.gov/27018475Test -
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المؤلفون: Gudrun E. Moore, John C. Whittaker, Jiehan Chong, Philip Stanier, Sayeda Abu-Amero, Miho Ishida, David Monk, Peter C. Hindmarsh, Andrew J. Duncan, Susan M. Ring, Marcus Pembrey
المصدر: American journal of human genetics. 90(4)
مصطلحات موضوعية: Adult, Male, Non-Mendelian inheritance, Birth weight, Molecular Sequence Data, Intrauterine growth restriction, Biology, White People, Andrology, Genomic Imprinting, Fetus, Report, medicine, Genetics, Birth Weight, Humans, Genetics(clinical), Allele, Promoter Regions, Genetic, Genetics (clinical), Repetitive Sequences, Nucleic Acid, Base Sequence, Infant, Newborn, Genetic Variation, Nuclear Proteins, Infant, Low Birth Weight, medicine.disease, Low birth weight, In utero, Female, medicine.symptom, Genomic imprinting
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58041e5e0dd42643311546f7623d4d97Test
https://pubmed.ncbi.nlm.nih.gov/22444668Test -
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المؤلفون: Gudrun E. Moore, Jennifer M. Frost, Miho Ishida, Faraneh Vargha-Khadem, Anna C. Thomas, Philip Stanier
المصدر: Journal of Medical Genetics. 49:669-670
مصطلحات موضوعية: Genetics, Heterozygote, Language Disorders, Gene Expression, Translocation Breakpoint, Forkhead Transcription Factors, FOXP2, Biology, medicine.disease, Genomic Imprinting, medicine, Humans, Speech, Language disorder, Imprinting (psychology), Allele, Genomic imprinting, Developmental verbal dyspraxia, Gene, Alleles, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d0f4577555d9cb913c0dd6cf5c83d32Test
https://doi.org/10.1136/jmedgenet-2012-101242Test -
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المؤلفون: Jorge M. Saraiva, Henry Houlden, S. Seto-Salvia, Mary O'Sullivan, Mina Ryten, Dawn E. Saunders, Francesco Lescai, A. Straatmaan-Iwanowska, B. Farren, Joshua Hersheson, Chela James, Nicholas W. Wood, Sérgio B. Sousa, Hywel Williams, Chiara Bacchelli, Konstantinos Mengrelis, Miho Ishida, Jane A. Hurst, Richard H. Scott, Bertrand Vernay, Andrew J. Duncan, Glenn Anderson, Gudrun E. Moore, Estelle Chanudet, Paul Gissen, Louise Ocaka, Philip Stanier, Dagan Jenkins, Anna C. Thomas, Deborah Morrogh, Y.J. Pai, Fabiana Ramos, Frank Baas, Maria Bitner-Glindzicz
المساهمون: ANS - Amsterdam Neuroscience, Genome Analysis
المصدر: Thomas, A C, Williams, H, Setõ-Salvia, N, Bacchelli, C, Jenkins, D, O'Sullivan, M, Mengrelis, K, Ishida, M, Ocaka, L, Chanudet, E, James, C, Lescai, F, Anderson, G, Morrogh, D, Ryten, M, Duncan, A J, Pai, Y J, Saraiva, J M, Ramos, F, Farren, B, Saunders, D, Vernay, B, Gissen, P, Straatmaan-Iwanowska, A, Baas, F, Wood, N W, Hersheson, J, Houlden, H, Hurst, J, Scott, R, Bitner-Glindzicz, M, Moore, G E, Sousa, S B & Stanier, P 2014, ' Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome ', American Journal of Human Genetics, vol. 95, no. 5, pp. 611-621 . https://doi.org/10.1016/j.ajhg.2014.10.007Test
American journal of human genetics, 95(5), 611-621. Cell Pressمصطلحات موضوعية: Male, Cerebellar Ataxia, Molecular Sequence Data, Genes, Recessive, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Report, Intellectual disability, Ataxia Cerebelar, Genetics, Humans, Medicine, Genetics(clinical), Gene Regulatory Networks, 10. No inequality, Sorting Nexins, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, business.industry, Deficiência Intelectual, Chromosome Mapping, Autosomal recessive cerebellar ataxia, Sequence Analysis, DNA, Fibroblasts, medicine.disease, Human genetics, Pedigree, Microscopy, Electron, Codon, Nonsense, Nexinas de Classificação, Female, Erratum, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7736db6330ca9502b0eb973aa687b8eaTest