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

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

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

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

URL الوصول: https://doaj.org/article/d32d41b7849b4153960f2e708014594c

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cde4a8444748290c65ff5897bb8ecf48
https://hdl.handle.net/11370/f13cc52b-9208-49b7-a3fb-363b521ca0b8

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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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c74b2c716e43ebc29f33aaffccdb60f
https://doi.org/10.1016/j.anpedi.2014.02.008

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)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef482fd0e133eecafd7c4327c6ee77be
https://doi.org/10.2478/bjmg-2013-0010

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3bbe86549909e93f886cdf76c3a3cb1
https://doi.org/10.1038/ejhg.2009.14

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dris___01423::29439d61b4bedcf26544b42bbec9a416
https://research.rug.nl/en/publications/9c45d053-f89e-413d-83cf-dc3a134e329e