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المؤلفون: Nicola Specchio, Domenica Battaglia, Giovanni Chillemi, Roberta Onesimo, Maria Luigia Gambardella, Francesca Clementina Radio, Marina Trivisano, Tommaso Verdolotti, Marco Tartaglia, Michela Quintiliani, Chiara Leoni, Diego Martinelli, Stefania Veltri, Ilaria Contaldo, Giuseppe Zampino, Chiara Veredice, C. Dravet
المصدر: Genes, Vol 12, Iss 1316, p 1316 (2021)
Genes
Volume 12
Issue 9مصطلحات موضوعية: Oncology, medicine.medical_specialty, Neurological examination, Status epilepticus, QH426-470, Cardiofaciocutaneous syndrome, Article, BRAF, genotype–phenotype correlations, Epilepsy, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Neuroimaging, Internal medicine, Genotype, medicine, Genetics, cardiofaciocutaneous syndrome, Genetics (clinical), status epilepticus, medicine.diagnostic_test, business.industry, medicine.disease, Natural history, Developmental disorder, Phenotype, hyperekplexia, epilepsy, medicine.symptom, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0118676fcd33fdb969bfc4f93a354eacTest
https://www.mdpi.com/2073-4425/12/9/1316Test -
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المصدر: Genes
Volume 10
Issue 9
Genes, Vol 10, Iss 9, p 713 (2019)مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, lcsh:QH426-470, Demographics, Prader–Willi syndrome, MEDLINE, registry, Global Health, Article, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Genetics, medicine, Global health, Humans, Medical history, Registries, Psychiatry, Genetics (clinical), business.industry, nutritional and metabolic diseases, medicine.disease, Mental health, Hypotonia, nervous system diseases, Natural history, lcsh:Genetics, 030104 developmental biology, natural history, medicine.symptom, business, Prader-Willi Syndrome, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08ac24ac06e0e7654964d58ce4396d75Test
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المؤلفون: Orsetta Zuffardi, Gabriele Trimarchi, Marco Tartaglia, Marzia Pollazzon, Ilenia Maini, Davide Nicoli, Carlo Fusco, Simone Pizzi, Manuela Napoli, Stefano Giuseppe Caraffi, Livia Garavelli, Rosario Pascarella, Francesca Clementina Radio, Sabina Barresi, Silvia Sassi, Gianluca Contrò, Giancarlo Gargano
المصدر: Genes
Genes, Vol 12, Iss 950, p 950 (2021)
Volume 12
Issue 7مصطلحات موضوعية: Male, 0301 basic medicine, peripheral polyneuropathy, Pediatrics, medicine.medical_specialty, Microcephaly, Autism Spectrum Disorder, POGZ, White–Sutton syndrome, Transposases, QH426-470, Short stature, Article, Polyneuropathies, 03 medical and health sciences, adducted thumb, 0302 clinical medicine, Intellectual Disability, Exome Sequencing, Intellectual disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetics (clinical), business.industry, Brachydactyly, Infant, medicine.disease, Hypotonia, Natural history, 030104 developmental biology, Chromosomes, Human, Pair 1, Autism, Female, Sensorineural hearing loss, medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7610132e478dd5e335e8858071457b37Test
https://doi.org/10.3390/genes12070950Test -
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المؤلفون: Piet Hoebeke, Aude Beyens, Sofie De Schepper, Sofie Symoens, Lore Pottie, Kyaran Van Meensel, Bart Loeys, Frank Plasschaert, Michiel De Bruyne, Bert Callewaert, Riet De Rycke, Femke Baeke
المصدر: Genes
Volume 10
Issue 7
Genes, Vol 10, Iss 7, p 528 (2019)
GENESمصطلحات موضوعية: 0301 basic medicine, collagen, Male, Pathology, Connective Tissue Disorder, PROTEIN, Cutis Laxa, Protein-Lysine 6-Oxidase, 0302 clinical medicine, Medicine and Health Sciences, Medicine, Child, Genetics (clinical), Middle Aged, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Child, Preschool, copper transport, Menkes' syndrome, Elastic fiber, CANDIDATE GENE, Adult, medicine.medical_specialty, Menkes syndrome, lcsh:QH426-470, Adolescent, Urinary Bladder, Occipital horn syndrome, review, Lysyl oxidase, PATIENT, ATP7A GENE, Article, 03 medical and health sciences, Young Adult, Genetics, ATP7A, Humans, occipital horn syndrome, business.industry, Biology and Life Sciences, Infant, NATURAL-HISTORY, medicine.disease, MENKES-DISEASE, elastic fiber, lcsh:Genetics, Diverticulum, 030104 developmental biology, SPLICE-SITE MUTATIONS, Ehlers–Danlos syndrome type IX, Ehlers–Danlos syndrome, Copper-Transporting ATPases, Ehlers-Danlos syndrome type IX, Menkes disease, Ehlers-Danlos Syndrome, Human medicine, business, SKIN FIBROBLASTS, EHLERS-DANLOS-SYNDROME, Cutis laxa
وصف الملف: application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6eb8c7fce99e884fced9a71b9de6b8b5Test
http://europepmc.org/articles/PMC6678539Test -
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المؤلفون: Merlin G. Butler, Andrea S Montes, Daniel J. Driscoll, Kathryn Osann, Virginia Kimonis, June-Anne Gold, Roy N. Tamura
المصدر: Genes
Genes, vol 11, iss 11
Volume 11
Issue 11
Genes, Vol 11, Iss 1250, p 1250 (2020)مصطلحات موضوعية: Male, 0301 basic medicine, Logistic regression, 0302 clinical medicine, Prader-Willi syndrome (PWS), 2.1 Biological and endogenous factors, Longitudinal Studies, Aetiology, Child, Genetics (clinical), Pediatric, Mental Disorders, Confounding, growth hormone treatment, Middle Aged, Uniparental disomy, Growth hormone treatment, Mental Health, natural history, Cohort, Anxiety, Female, Prader-Willi syndrome, medicine.symptom, Prader-Willi Syndrome, phenotype correlations, Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, lcsh:QH426-470, Adolescent, PWS genetic subtype–, Article, Young Adult, 03 medical and health sciences, Behavioral and Social Science, Genetics, medicine, Humans, Genetic Predisposition to Disease, Skin-picking, Genetic Testing, Psychiatry, psychiatric behavioral phenotype, Problem Behavior, business.industry, PWS molecular classes, nutritional and metabolic diseases, Uniparental Disomy, medicine.disease, nervous system diseases, Brain Disorders, lcsh:Genetics, 030104 developmental biology, PWS genetic subtype–phenotype correlations, Growth Hormone, Observational study, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ea51a939c8fa4a7f6809a97a248ca38Test
https://doi.org/10.3390/genes11111250Test -
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المصدر: Genes.
مصطلحات موضوعية: education.field_of_study, medicine.medical_specialty, business.industry, Population, Retinoschisis, medicine.disease, Dermatology, Discontinuation, Natural history, Macular Lesion, Dorzolamide, Genetics, medicine, Intermediate uveitis, education, business, Genetics (clinical), Uveitis, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::17fbcb0941bfab268393439456270a8cTest
