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 6

مصطلحات 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

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

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

المؤلفون: Grace McMacken, Judith Cossins, Seena Vengalil, Robert McFarland, Charu Deshpande, Rita Horvath, Astrid Pechmann, Helen Roper, Sunitha Balaraju, Robert W. Taylor, Saraswati Nashi, Nalini Atchayaram, Janbernd Kirschner, Kiran Polavarapu, David Beeson, Steven Laurie, Ana Töpf, Niranjan Prakash Mahajan, Veeramani Preethish Kumar, Ines A. Barbosa, Hanns Lochmüller

المساهمون: Balaraju, Sunitha [0000-0003-0273-1918], Apollo - University of Cambridge Repository, Horvath, Rita [0000-0002-9841-170X]

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Malalties neuromusculars, Genetic testing, Neuromuscular transmission, Mutation, Missense, Organic Anion Transporters, 45/23, 631/208/2489/1512, Brief Communication, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Muscle, Skeletal, health care economics and organizations, Genetics (clinical), Exome sequencing, Myasthenic Syndromes, Congenital, business.industry, Genetic heterogeneity, Haplotype, Homozygote, 631/208/514/2254, brief-communication, Congenital myasthenic syndrome, medicine.disease, 3. Good health, 030104 developmental biology, Haplotypes, Next-generation sequencing, Female, Malalties congènites, business, 030217 neurology & neurosurgery, Founder effect

وصف الملف: text/xml; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13f20bae1015e38441624b4a45e35f05Test
https://www.repository.cam.ac.uk/handle/1810/310287Test

المؤلفون: Bas Vroling, Hanns Lochmüller, Paulo José Lorenzoni, Sergi Beltran, Steven Laurie, Rachel Thompson, Argemiro Geraldo, Marta Gut, David Owen, Ana Töpf, Ivo Gut, Jan Senderek, John Dawson, Saraswati Nashi, Atchayaram Nalini, Teresinha Evangelista, Dan Cox, Kiran Polavarapu, Rosana Herminia Scola, Elza Dias‐Tosta, Veeramani Preethish-Kumar

المصدر: American journal of medical genetics. Part A. 176(7)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Limb girdle, Late onset, Genes, Recessive, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Genetics, medicine, Missense mutation, Humans, Receptors, Cholinergic, Age of Onset, Child, Genetics (clinical), Myasthenic Syndromes, Congenital, Muscle Weakness, business.industry, Muscle weakness, Receptor Protein-Tyrosine Kinases, Congenital myasthenic syndrome, medicine.disease, Prognosis, Null allele, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Immunology, Mutation, Female, Age of onset, medicine.symptom, Esterase inhibitor, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::500e8b08d94c9c334c36ebcdfa8d589cTest
https://pubmed.ncbi.nlm.nih.gov/29704306Test