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المؤلفون: Uluç Yiş, Lena Zeltner, Ahmet Yaramis, Ece Sonmezler, Elmasnur Yilmaz, Ludger Schöls, Rebecca Schüle, Benjamin Bender, Rita Horvath, Ana Töpf, Inga Liepelt, Sofie Kaemereit, Sarah Wiethoff, Stephan Züchner, Benjamin Munro, Steven Laurie, Yavuz Oktay, Semra Hiz, Christoph Kernstock, Hanns Lochmüller, Serdal Güngör
المساهمون: Munro, Benjamin [0000-0003-4506-7092], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository
المصدر: Journal of Neuromuscular Diseases
Journal of neuromuscular diseases 7(3), 301-308 (2020). doi:10.3233/JND-200510مصطلحات موضوعية: 0301 basic medicine, Research Report, Adult, Male, Adolescent, Turkey, Mitochondrial disease, Nonsense mutation, Consanguinity, Biology, Frameshift mutation, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, medicine, genetics [Leigh Disease], Humans, ddc:610, Leigh disease, Exome sequencing, pathology [Leigh Disease], Genetics, Massive parallel sequencing, physiopathology [Leigh Disease], Haplotype, genetics [Transcription Factors], medicine.disease, 3. Good health, Pedigree, 030104 developmental biology, Neurology, genetics [Mitochondrial Proteins], Female, diagnostic imaging [Leigh Disease], Neurology (clinical), Leigh Disease, 030217 neurology & neurosurgery, Transcription Factors
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::417982beac2ccbd99f6d157e1f298334Test
http://europepmc.org/articles/PMC7458500Test -
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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: Jaume Comas-Riu, Giuliana Maldonado, Amaya Amador-Catalan, Sergi Beltran, Teresa González-Alujas, Gemma Ferrer-Curriu, Artur Evangelista, Alfredo Bardají, María L Pérez, Berta Fuste, Steven Laurie, Manuel Galiñanes, Eduard Permanyer, Arnau Blasco-Lucas
المصدر: European Journal of Medical Genetics. 63:103854
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Heart disease, Heart Valve Diseases, Dwarfism, Short stature, Myxomatous degeneration, Frameshift mutation, Genetics, medicine, Humans, Heart valve, Family history, Child, Frameshift Mutation, Genetics (clinical), Exome sequencing, Adaptor Proteins, Signal Transducing, Aged, business.industry, valvular heart disease, Exons, General Medicine, Middle Aged, medicine.disease, medicine.anatomical_structure, Child, Preschool, Face, Female, medicine.symptom, business, Myxoma
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8718baf5be53095bc5008175bbf62299Test
https://doi.org/10.1016/j.ejmg.2020.103854Test