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1دورية أكاديمية
المؤلفون: Alessia Bauleo, Vincenza Pace, Alberto Montesanto, Laura De Stefano, Rossella Brando, Domenica Puntorieri, Luca Cento, Maurizio Genuardi, Elena Falcone
المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 4, Pp n/a-n/a (2023)
مصطلحات موضوعية: 3q29 microduplication, array‐CGH, CNV, minimal critical region, neurodevelopmental phenotypes, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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2دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
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المؤلفون: STREATA, IOANA, RIZA, ANCA-LELIA, SOSOI, SIMONA, BURADA, FLORIN, IOANA, MIHAI
المصدر: Current Health Sciences Journal
مصطلحات موضوعية: 3q29 microduplication, aCGH, Immunodeficiency, RNF168 gene, Case Report, fronto-temporal dementia
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::236235a945fdfecd74b6849b80d5aed1
http://europepmc.org/articles/PMC7445637 -
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المؤلفون: Teresa Cartaxo, Filipa Reis, Cristina Pereira, Maria Laureano
المصدر: Cureus
مصطلحات موضوعية: medicine.medical_specialty, child and adolescent psychiatry, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, differential diagnosis, Child and adolescent psychiatry, medicine, Genetics, Global developmental delay, emotional dysregulation, Psychiatry, business.industry, General Engineering, Elimination Disorders, medicine.disease, Emotional dysregulation, Developmental disorder, Neurology, intellectual disability, Autism, business, 030217 neurology & neurosurgery, 3q29 microduplication, 3q29 microduplication syndrome
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المؤلفون: Kumiko Yanagi, Yoshiteru Azuma, Atsushi Fujita, Yutaka Harita, Ai Motomura, Tadashi Kaname, Takeshi Mizuguchi, Yoichiro Oda, Naomichi Matsumoto, Keiko Wakui, Yoichi Matsubara, Kenichiro Hata, Hiroko Ogata, Yuri Uchiyama
المصدر: Journal of Human Genetics. 64:1005-1014
مصطلحات موضوعية: 0301 basic medicine, Adolescent, DNA Copy Number Variations, Chromosome Disorders, Chromosomal translocation, 030105 genetics & heredity, Biology, Translocation, Genetic, 03 medical and health sciences, Epilepsy, Gene Duplication, Chromosome Duplication, Exome Sequencing, Gene duplication, Genetics, medicine, Humans, Genetics (clinical), Exome sequencing, Infant, West Syndrome, medicine.disease, Phenotype, Pedigree, Fibroblast Growth Factors, 030104 developmental biology, Neurodevelopmental Disorders, dup, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, Chromosomes, Human, Pair 9, Spasms, Infantile, 3q29 microduplication
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المؤلفون: Alyxis G. Coyan, Lisa Dyer
المصدر: European journal of medical genetics. 63(12)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Language delay, Developmental Disabilities, Genomics, Chromosome Disorders, Epilepsy, Intellectual disability, Gene duplication, Chromosome Duplication, Genetics, Medicine, Humans, Abnormalities, Multiple, Genetic Testing, Child, Genetics (clinical), Genes, Modifier, business.industry, Macrocephaly, Infant, Newborn, General Medicine, medicine.disease, Phenotype, Cohort, Female, Chromosomes, Human, Pair 3, medicine.symptom, business, 3q29 microduplication
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المؤلفون: Pasqualina Buono, Carmela Nardelli, Fabrizio Pasanisi, Andrea Vitale, Annamaria Mancini, Giuseppe Labruna, Laura Iaffaldano, Lucio Pastore, Barbara Lombardo, Andreina Alfieri
المساهمون: Vitale, Andrea, Labruna, Giuseppe, Mancini, Annamaria, Alfieri, Andreina, Iaffaldano, Laura, Nardelli, Carmela, Pasanisi, Fabrizio, Pastore, Lucio, Buono, Pasqualina, Lombardo, Barbara
مصطلحات موضوعية: 0301 basic medicine, Genetics, business.industry, Clinical Biochemistry, Biochemistry (medical), General Medicine, CGH array, 3q29 microduplication, morbid obesity, Morbid obesity, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Metabolic phenotype, Medicine, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98dc95b9e744124dee59f24ed3dac17e
http://hdl.handle.net/11588/703497 -
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المؤلفون: Thea Giacomini, Elisa Tassano, Marcella Gherzi, Mariasavina Severino, Simona Porta, Giorgio Gimelli, Patrizia Ronchetto, Laura Siri, Maria Elena Celle, Sara Uccella
المصدر: European journal of medical genetics. 61(8)
مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, Pathology, medicine.medical_specialty, Array-CGH, 3q29 microdeletion syndrome, Chromosome Disorders, 3q29 duplication, Small region of overlap, Adaptor Proteins, Signal Transducing, Child, Chromosome Duplication, Discs Large Homolog 1 Protein, Female, Gray Matter, Humans, Hydroxybutyrate Dehydrogenase, Membrane Proteins, Receptors, Transferrin, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, Receptors, Genetics, Medicine, In patient, Genetics (clinical), business.industry, Signal Transducing, Transferrin, Adaptor Proteins, General Medicine, medicine.disease, Phenotype, Hypotonia, 030104 developmental biology, medicine.symptom, business, Right lateral ventricle, 030217 neurology & neurosurgery, 3q29 microduplication
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المؤلفون: Alberto González de la Vega, Jacobo Albert, Beatriz Calleja-Pérez, Alberto Fernández-Jaén, Ana Laura Fernández-Perrone, Ester Corbacho Fernández, Maria del Carmen Castellanos, Daniel Martín Fernández-Mayoralas, María Carmen Sánchez Hombre
المصدر: American Journal of Medical Genetics Part A. 164:2043-2047
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Chromosome Disorders, Cerebral palsy, Epilepsy, Intellectual Disability, Chromosome Duplication, Gene duplication, Intellectual disability, Genetics, medicine, Humans, In patient, Child, Genetics (clinical), Comparative Genomic Hybridization, business.industry, Cerebral Palsy, Brain, medicine.disease, Magnetic Resonance Imaging, Phenotype, Etiology, Female, business, 3q29 microduplication, Comparative genomic hybridization
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المصدر: JIMD Reports ISBN: 9783662543849
مصطلحات موضوعية: 0301 basic medicine, Newborn screening, business.industry, Choreoathetosis, Cardiomyopathy, Disease, Bioinformatics, medicine.disease, Hypotonia, Article, HSD17B10, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine, medicine.symptom, business, 030217 neurology & neurosurgery, 3q29 microduplication, Urine organic acids
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae6d833586531c76a02d650dc81590ab
https://pubmed.ncbi.nlm.nih.gov/27295195