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المؤلفون: Rita Horvath, Reza Maroofian, Juliane S Müller, Yavuz Oktay, Mahmut Aslan, Ashwati Nair, Uluç Yiş, Emily O'Heir, Elmasnur Yilmaz, Ana Töpf, Henry Houlden, Steven Laurie, Bilge Özgör, Sergi Beltran, Pinar Edem, K. Polavarapu, Fei Gao, Serdal Güngör, Nur Arslan, Andreas Roos, Hanns Lochmüller, Leslie Matalonga, Katherine Schon, Alysia Kern Lovgren, Angela Lochmüller, Patrick F. Chinnery, Nóra Zs Szabó, Denisa Hathazi, Ida Paramonov, Aliz Rieger, Ahmet Yaramis, Ece Sonmezler, Semra Hız Kurul, Ipek Kalafatcilar, Burcu Ekinci
المساهمون: Houlden, Henry [0000-0002-2866-7777], Chinnery, Patrick F [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository
المصدر: Brain
مصطلحات موضوعية: Consanguinitat, Population, Medizin, Prevalence, Consanguinity, rate of consanguinity, Compound heterozygosity, DNA sequencing, whole exome sequencing, neurogenetic disease burden, Exome Sequencing, Medicine, Humans, Exome, education, Gene, Exome sequencing, Genetics, consanguineous families, education.field_of_study, business.industry, Homozygote, Pedigree, Phenotype, Cohort, Mutation, Neurology (clinical), Neurogenètica, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a5e400847ded38fef658522e2ef5a88Test
https://avesis.deu.edu.tr/publication/details/de485db7-555e-4eea-9a2b-8423075ec9c4/oaiTest -
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المؤلفون: Orsetta Zuffardi, Lara Valeri, Davide Nicoli, Stefano Giuseppe Caraffi, Steven Laurie, Ilenia Maini, Livia Garavelli, Francesca Peluso, Chiara Baldo
المصدر: Genes, Vol 12, Iss 900, p 900 (2021)
Genes
Volume 12
Issue 6مصطلحات موضوعية: 0301 basic medicine, Syndromic and non-syndromic intellectual disability, Adolescent, Genotype, Developmental Disabilities, Mutation, Missense, QH426-470, 030105 genetics & heredity, Article, NAA10-related syndrome, Craniofacial Abnormalities, 03 medical and health sciences, Epilepsy, Intellectual Disability, Intellectual disability, Genetics, Humans, Medicine, Missense mutation, Acetyltransferase complex, N-Terminal Acetyltransferase E, N-Terminal Acetyltransferase A, Genetics (clinical), Exome sequencing, business.industry, Genotype–phenotype correlation, NAA10 Gene, Genetic Diseases, X-Linked, Syndrome, medicine.disease, Xq28, Ogden Syndrome, X-linked disorder, Phenotype, 030104 developmental biology, Female, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4959820eb7a4625df7c276a2b4ba84f8Test
http://hdl.handle.net/10230/49030Test -
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المؤلفون: Sabrina Giglio, Allan Bayat, Helen Stewart, Steven Laurie, Livia Garavelli, Renata Rizzo, Marzia Pollazzon, Chiara Baldo, Janice Baker, Chiara Pantaleoni, Simonetta Rosato, Anna Lauriello, Ivan Ivanovski, Aldesia Provenzano, Orsetta Zuffardi, Elena Andreucci, Teresa Mattina, Alyssa Mendel, Davide Nicoli, Giorgia Carboni, Manuela Napoli, Stefano Giuseppe Caraffi, Francesca Peluso, Gabriele Trimarchi, Josue Flores-Daboub, Paolo Prontera, Ilenia Maini, Maria Marinelli, Nancy J. Mendelsohn, Katherine Lachlan, Gianluca Piatelli, Sara Giangiobbe
المصدر: Giangiobbe, S, Caraffi, S G, Ivanovski, I, Maini, I, Pollazzon, M, Rosato, S, Trimarchi, G, Lauriello, A, Marinelli, M, Nicoli, D, Baldo, C, Laurie, S, Flores-Daboub, J, Provenzano, A, Andreucci, E, Peluso, F, Rizzo, R, Stewart, H, Lachlan, K, Bayat, A, Napoli, M, Carboni, G, Baker, J, Mendel, A, Piatelli, G, Pantaleoni, C, Mattina, T, Prontera, P, Mendelsohn, N J, Giglio, S, Zuffardi, O & Garavelli, L 2020, ' Expanding the phenotype of Wiedemann-Steiner syndrome : Craniovertebral junction anomalies ', American Journal of Medical Genetics, Part A, vol. 182, no. 12, pp. 2877-2886 . https://doi.org/10.1002/ajmg.a.61859Test
مصطلحات موضوعية: Adult, Male, Hypertrichosis, Pathology, medicine.medical_specialty, Contracture, Wiedemann–Steiner syndrome, Adolescent, Chiari malformation, Short stature, cervical C2/C3 vertebral fusion, Young Adult, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, craniovertebral junction, Epigenetics, Child, Growth Disorders, Genetics (clinical), Loss function, small foramen magnum, biology, business.industry, Facies, Histone-Lysine N-Methyltransferase, Syndrome, KMT2A, medicine.disease, Phenotype, medicine.anatomical_structure, Wiedemann-Steiner syndrome, Child, Preschool, Mutation, Cervical Vertebrae, Microcephaly, biology.protein, Female, medicine.symptom, business, Myeloid-Lymphoid Leukemia Protein, Cervical vertebrae
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2ab3754ed745942da035c6ccf40fb9bTest
https://findresearcher.sdu.dk:8443/ws/files/174125064/ajmg.a.61859.pdfTest -
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المؤلفون: Elmasnur Yilmaz, Sunitha Balaraju, Serdal Güngör, Yavuz Oktay, Semra Hiz, Ana Töpf, Hanns Lochmüller, Daniel G. MacArthur, Rachel Thompson, Uluç Yiş, Rita Horvath, Steven Laurie, Andreas Roos, Ahmet Yaramis, Ece Sonmezler
المساهمون: Balaraju, Sunitha [0000-0003-0273-1918], MacArthur, Daniel G [0000-0002-5771-2290], Lochmüller, Hanns [0000-0003-2324-8001], Apollo - University of Cambridge Repository, MacArthur, Daniel G. [0000-0002-5771-2290]
المصدر: European journal of human genetics : EJHG
مصطلحات موضوعية: Adult, Male, Cerebellum, Heterozygote, Developmental Disabilities, Medizin, dysmorphism, Mutation, Missense, Biology, Brief Communication, medicine.disease_cause, Nervous System Malformations, Article, 03 medical and health sciences, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), Exome sequencing, 0303 health sciences, Mutation, Trastorns del neurodesenvolupament, brief-communication, 030305 genetics & heredity, Homozygote, 1. No poverty, Infant, autosomal recessive, Heterozygote advantage, West Syndrome, Phenotype, 3. Good health, Pedigree, TLK2, neurodevelopmental disease, medicine.anatomical_structure, Female, Haploinsufficiency, Proteïnes, Protein Kinases, Spasms, Infantile, Genètica
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/png; image/jpeg; text/xml; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4ae66386100761b3649aba86ab8c066Test
https://www.repository.cam.ac.uk/handle/1810/293649Test -
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المؤلفون: Serdal Güngör, Ahmet Yaramis, Ece Sonmezler, Steven Laurie, Uluç Yiş, Ayşe İpek Polat, Elmasnur Yilmaz, Yavuz Oktay, Semra Hiz, Aysenur Yaramis, Sergi Beltran, Pinar Edem, Hanns Lochmüller, Rita Horvath, Ana Töpf
المساهمون: Yaramış, Ayşenur, Yaramış, Ahmet, Lochmueller, Hanns, Topf, Ana, Sönmezler, Ece, Yılmaz, Elmasnur, Hız, Semra, Yiş, Uluç, Güngör, Serdal, Polat, Ayşe İpek, Edem, Pınar, Beltran, Sergi, Laurie, Steven, Horvath, Rita, Oktay, Yavuz, Graduate School of Health Sciences, Apollo - University of Cambridge Repository, Horvath, Rita [0000-0002-9841-170X]
المصدر: Neurology: Genetics
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Encefalopatia, Infants -- Malalties, genetic structures, Turkish, Encephalopathy, 32 Biomedical and Clinical Sciences, Disease, Neurodegenerative, Electroencephalography, COL4A1 mutations, Collagen, Hemorrhage, Phenotype, 3105 Genetics, Article, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Clinical Research, Genetics, medicine, 2.1 Biological and endogenous factors, Missense mutation, Medicine, Malformations of cortical development, Mutation, Basement membranes, Genetics (clinical), 030304 developmental biology, Pediatric, 2 Aetiology, 2. Zero hunger, 0303 health sciences, medicine.diagnostic_test, business.industry, Neurosciences, medicine.disease, language.human_language, Brain Disorders, 3. Good health, Neurological, Cohort, Mutation (genetic algorithm), language, Neurology (clinical), Neurogenètica, business, 030217 neurology & neurosurgery, 31 Biological Sciences
وصف الملف: application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab35767fe3363ad0088bb26608d0eb74Test
http://hdl.handle.net/10230/44436Test -
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المؤلفون: Simon R. Turner, Neil G. Taylor, Steven Laurie
المصدر: The Plant Cell. 12:2529
مصطلحات موضوعية: DNA, Complementary, Protein subunit, Molecular Sequence Data, Mutant, Arabidopsis, Plant Science, Cell wall, chemistry.chemical_compound, Catalytic Domain, Cellulose synthase complex, Amino Acid Sequence, Cloning, Molecular, Cellulose, DNA Primers, Base Sequence, Sequence Homology, Amino Acid, ATP synthase, biology, Arabidopsis Proteins, Cell Biology, biology.organism_classification, Molecular biology, Phenotype, chemistry, Biochemistry, Glucosyltransferases, biology.protein, Secondary cell wall, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6feee7a176f6d89150d7ea9381d5fffcTest
https://doi.org/10.2307/3871246Test