المؤلفون: Catherine Mankiw, Liv S. Clasen, Armin Raznahan, Ari M. Fish, Allysa Warling, Kathleen Wilson, Ethan T. Whitman, Jonathan D. Blumenthal, Erin Torres, Anastasia Xenophontos

المصدر: Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-12 (2021)
Journal of Neurodevelopmental Disorders

مصطلحات موضوعية: Adult, Male, Proband, Sex chromosome aneuploidies, Adolescent, DNA Copy Number Variations, Autism Spectrum Disorder, Cognitive Neuroscience, Sex Chromosome Disorders, Aneuploidy, Pathology and Forensic Medicine, lcsh:RC321-571, Young Adult, 03 medical and health sciences, 0302 clinical medicine, XYY Karyotype, medicine, Humans, Attention deficit hyperactivity disorder, Family, Child, Modeling penetrance, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, 030304 developmental biology, 0303 health sciences, Copy number variants, business.industry, Research, Neuropsychology, medicine.disease, Penetrance, Autism spectrum disorder, Child, Preschool, Neurogenetic disorders, Pediatrics, Perinatology and Child Health, XYY syndrome, Neurology (clinical), Precision psychiatry, business, 030217 neurology & neurosurgery, Psychopathology, Clinical psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f34e42721fedc22399d70aa8daccc53Test
https://doaj.org/article/98360c31b5f04ca78462977a5f681dcfTest

المؤلفون: Rhys H. Thomas, Ingo Helbig, David Lewis-Smith, Hiltrud Muhle, Lacey Smith, Colin A Ellis, Manuela Pendziwiat, Epgp Investigators, Annika Rademacher, Annapurna Poduri, Simone Seiffert, Andreas van Baalen, Sarah E McKeown, Roland Krause, Shiva Ganesan, Sarah von Spiczak, Katherine L. Helbig, Peter D. Galer, Yvonne G. Weber

المصدر: American Journal of Human Genetics

مصطلحات موضوعية: Male, 0301 basic medicine, GABA Plasma Membrane Transport Proteins, Gene Expression, Human Phenotype Ontology, Biology, computational phenotypes, Article, Speech Disorders, EEG with generalized slow activity, Cohort Studies, 03 medical and health sciences, Munc18 Proteins, Shab Potassium Channels, 0302 clinical medicine, Semantic similarity, Similarity (network science), Seizures, Terminology as Topic, Exome Sequencing, electronic medical records, Genetics, Humans, STXBP1, whole-exome sequencing, neurogenetic disorders, Gene, Genetics (clinical), Exome sequencing, Phenotype, Semantics, NAV1.1 Voltage-Gated Sodium Channel, childhood epilepsies, developmental and epileptic encephalopathies, Gene Ontology, 030104 developmental biology, Child, Preschool, Mutation, Female, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Spasms, Infantile, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ad1f3e5aaddc4fb92285fd126b6ef12Test
https://doi.org/10.1016/j.ajhg.2020.08.003Test

المؤلفون: Thierry Kuntzer, Jean-Marc Good, Mayte Castro Jiménez, Christel Tran, David Benninger, Isis Atallah, Andrea Superti-Furga

المصدر: Genes, Vol 12, Iss 695, p 695 (2021)
Genes, vol. 12, no. 5, pp. 695
Genes

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Movement disorders, Deficiency syndrome, medicine.medical_treatment, Case Report, QH426-470, Cerebrotendinous Xanthomatosis, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Adrenal insufficiency, Spastic, Genetics, Medicine, X-linked adrenoleukodystrophy, next-generation sequencing (NGS), neurogenetic disorders, treatable diseases, Genetics (clinical), ATP Binding Cassette Transporter, Subfamily D, Member 1/genetics, Adrenoleukodystrophy/diagnosis, Adrenoleukodystrophy/genetics, Adult, Carbohydrate Metabolism, Inborn Errors/diagnosis, Carbohydrate Metabolism, Inborn Errors/genetics, Cholestanetriol 26-Monooxygenase/genetics, Female, Genetic Testing/methods, Glucose Transporter Type 1/genetics, High-Throughput Nucleotide Sequencing/methods, Humans, Male, Middle Aged, Monosaccharide Transport Proteins/deficiency, Monosaccharide Transport Proteins/genetics, Sequence Analysis, DNA/methods, Xanthomatosis, Cerebrotendinous/diagnosis, Xanthomatosis, Cerebrotendinous/genetics, cerebrotendinous xanthomatosis, glucose transporter type 1 deficiency syndrome, business.industry, medicine.disease, 030104 developmental biology, Adrenoleukodystrophy, medicine.symptom, business, 030217 neurology & neurosurgery, Ketogenic diet

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f4548bde130ef8b04feff3d0ac31a2aTest
https://www.mdpi.com/2073-4425/12/5/695Test

المؤلفون: Yena Lee, Min-Jee Kim, Go Hun Seo, Tae-Sung Ko, Mi-Sun Yum, Han Na Jang, Beom Hee Lee

المصدر: Journal of Clinical Medicine
Volume 9
Issue 11
Journal of Clinical Medicine, Vol 9, Iss 3724, p 3724 (2020)

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Muscle Hypotonia, lcsh:Medicine, Article, whole exome sequencing, 03 medical and health sciences, 0302 clinical medicine, epileptic encephalopathy 47, medicine, episodic ataxia type II, neurogenetic disorders, Exome sequencing, 030304 developmental biology, Episodic ataxia, Dystonia, autosomal recessive dopa-responsive dystonia, 0303 health sciences, Autosomal recessive dopa responsive dystonia, business.industry, lcsh:R, General Medicine, Congenital myasthenic syndrome, medicine.disease, Hypotonia, rare genetic diseases, congenital myasthenic syndrome, Medical genetics, medicine.symptom, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ceb31306c9212b1fd1074c536116005Test