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1دورية أكاديمية
المؤلفون: Smith, Moyra, Sperling, Donald
المصدر: American Journal of Medical Genetics. 84(4)
مصطلحات موضوعية: Genetics, Pediatric, Rare Diseases, Brain Disorders, Heart Disease, Tuberous Sclerosis, Cardiovascular, Aetiology, 2.1 Biological and endogenous factors, Base Sequence, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 9, Exons, Gene Duplication, Heart Neoplasms, Humans, Infant, Newborn, Male, Molecular Sequence Data, Polymerase Chain Reaction, Proteins, Rhabdomyoma, Tuberous Sclerosis Complex 1 Protein, Tumor Suppressor Proteins, cardiac rhabdomyoma, tuberous sclerosis, mutation analysis, TSC1, hamartin, base pair duplication, Cardiac rhabdomyoma, Hamartin, Mutation analysis, Tuberous sclerosis, DNA, article, base pairing, case report, chromosome 16p, chromosome 9q, crossing over, DNA sequence, exon, gene duplication, gene mutation, heart tumor, human, hypomelanosis, infant, priority journal, rhabdomyoma, Clinical Sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/50d208ch
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2دورية أكاديمية
المؤلفون: Smalley, SL, Burger, F, Smith, M
المصدر: Journal of Medical Genetics. 31(10)
مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Tuberous Sclerosis, Rare Diseases, Adolescent, Adult, Chromosome Mapping, Chromosomes, Human, Pair 16, Female, Genetic Variation, Humans, Interviews as Topic, Lod Score, Male, Mental Disorders, Neuropsychological Tests, Phenotype, Physical Examination, adult, article, behavior disorder, chromosome 16p, clinical article, genetic marker, genetic variability, human, human cell, hypothesis, mental disease, phenotype, physical parameters, priority journal, segregation analysis, tuberous sclerosis, Interviews, Variation, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/70b5p35q
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3دورية أكاديمية
المؤلفون: Green, Andrew J, Smith, Moyra, Yates, John RW
المصدر: Nature Genetics. 6(2)
مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Rare Diseases, Neurosciences, Tuberous Sclerosis, Aetiology, 2.1 Biological and endogenous factors, Alleles, Angiomyolipoma, Astrocytoma, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 9, DNA, Neoplasm, Female, Gene Deletion, Genes, Tumor Suppressor, Genetic Markers, Hamartoma, Heterozygote, Humans, Kidney Neoplasms, Male, Pedigree, dna marker, tumor marker, angiomyolipoma, article, astrocytoma, autosomal dominant disorder, chromosome 16p, chromosome 9q, gene mapping, genetic linkage, hamartoma, heterozygosity, human, polymerase chain reaction, priority journal, rhabdomyoma, tuberous sclerosis, tumor suppressor gene, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5gx0c96q
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4دورية أكاديمية
المؤلفون: Babameto-Laku A., Mokini V., Kuneshka N., Sallabanda S., Ylli Z.
المصدر: Balkan Journal of Medical Genetics, Vol 15, Iss 2, Pp 73-76 (2012)
مصطلحات موضوعية: duplication chromosome 16p, multiplex ligation-dependent probe amplification (mlpa) technique, pulmonary hypertension, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1311-0160
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5
المؤلفون: Patricia Rump, Petra M.C. Callenbach, Yvonne J. Vos, Birgit Sikkema-Raddatz, Conny M. A. van Ravenswaaij-Arts, Oebele F. Brouwer, Danique R.M. Vlaskamp
المساهمون: Clinical Cognitive Neuropsychiatry Research Program (CCNP)
المصدر: European Journal of Paediatric Neurology, 20(3), 489-492. ELSEVIER SCI LTD
مصطلحات موضوعية: 0301 basic medicine, problem behavior, Adolescent, diagnosis, Epilepsies, Myoclonic, syntaxin 1A, Biology, febrile convulsion, 03 medical and health sciences, Epilepsy, myoclonic astatic epilepsy, 0302 clinical medicine, Dravet syndrome, male, severe myoclonic epilepsy in infancy, medicine, Genetic predisposition, Genetics, Humans, STXBP1, Missense mutation, case report, synaptic transmission, human, syntaxin 1, Aetiology, Doose syndrome, Sequence Deletion, fever, gene deletion, infantile spasm, STX1B, adult, intellectual impairment, missense mutation, General Medicine, medicine.disease, chromosome 16p, haploinsufficiency, 030104 developmental biology, Myoclonic astatic epilepsy, Pediatrics, Perinatology and Child Health, Neurology (clinical), Haploinsufficiency, genetic predisposition, 030217 neurology & neurosurgery, neurotransmitter
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6دورية أكاديمية
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7
المؤلفون: M. Fernández Sanmartín, R. Saborido Fiaño, M. Vázquez Donsión, L. González Calvete, J. M. Couselo Sanchez, A. Regueiro García
المصدر: Anales de Pediatría, Vol 82, Iss 1, Pp e189-e191 (2015)
مصطلحات موضوعية: ATR-16 syndrome, musculoskeletal diseases, Osteosarcoma, Pathology, medicine.medical_specialty, Chromosome 16p, Genitourinary system, business.industry, Chromosome, medicine.disease, Pediatrics, RJ1-570, Chromosome 16, Pediatrics, Perinatology and Child Health, Complex Karyotype, medicine, Dysmorphic facial features, business
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8
المؤلفون: N. Kuneshka, Vahe Mokini, Anila Babameto-Laku, Z. Ylli, S. Sallabanda
المصدر: Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 15, Iss 2, Pp 73-76 (2012)مصطلحات موضوعية: Microcephaly, Pathology, medicine.medical_specialty, business.industry, Duplication chromosome 16p, Case Report, Karyotype, QH426-470, medicine.disease, Blepharophimosis, Multiplex ligation-dependent probe amplification (MLPA) technique, Pulmonary hypertension, Inguinal hernia, Palpebral fissure, Ptosis, Gene duplication, Genetics, medicine, Multiplex ligation-dependent probe amplification, medicine.symptom, business, Genetics (clinical)
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9
المؤلفون: Maria Giulia Gagliardi, Maria Cristina Digilio, Rossella Capolino, Bruno Dallapiccola, Bruno Marino, Antonio Novelli, Anna Capalbo, Laura Bernardini
المصدر: European Journal of Human Genetics. 17:1135-1140
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Developmental Disabilities, comparative genomic hybridization, duplication chromosome 16p, pulmonary hypertension, Biology, Article, Gene Duplication, Intellectual Disability, Gene duplication, Genetics, medicine, Humans, Abnormalities, Multiple, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome Aberrations, Comparative Genomic Hybridization, Vascular disease, Infant, Vascular ring, Karyotype, Syndrome, Telomere, medicine.disease, Subtelomere, Blepharophimosis, Hypoplasia, Child, Preschool, Karyotyping, Female, Chromosomes, Human, Pair 16, Comparative genomic hybridization
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10
المصدر: Clinical Genetics. 67(6):517-525
مصطلحات موضوعية: MODULE, benign familial infantile convulsions, DOMAINS, PROTEIN, INHERITANCE, chromosome 16p, CONFIRMATION, epilepsy, linkage analysis, MULTILOCUS LINKAGE ANALYSIS, 16P12-Q12, ALGORITHM, EPILEPSY, CHOREOATHETOSIS