نتائج البحث - "Isodicentric chromosome 15 syndrome"

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دورية أكاديمية

Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as a small supernumerary marker chromosome associated with the inv dup(15) syndrome

المؤلفون: Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Chien-Wen Yang, Wayseen Wang

المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 55, Iss 5, Pp 728-732 (2016)

مصطلحات موضوعية: inverted duplication of proximal chromosome 15 syndrome, isodicentric chromosome 15 syndrome, small supernumerary marker chromosome 15, tetrasomy 15q, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1028455916301395; https://doaj.org/toc/1028-4559

URL الوصول: https://doaj.org/article/039697c409724e929f3874976a960b14

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INVERTED DUPLICATED CHROMOSOME 15 SYNDROME (ISODICENTRIC 15)

المؤلفون: Agatino Battaglia

المصدر: Cassidy and Allanson's Management of Genetic Syndromes

مصطلحات موضوعية: Genetics, Chromosome 15, Isodicentric chromosome 15 syndrome, Epilepsy, Isodicentric 15, medicine, Central hypotonia, Biology, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9527113ac9f2d9f8e91ea04124f10ffd
https://doi.org/10.1002/9781119432692.ch33

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Infantile spasms in a mosaic monocentric and duplicated SMC 15 patient

المؤلفون: Keiko Matsubara, Kiyotaka Isobe, Yoshiteru Tamura, Junya Hashimoto, Shigeaki Nonoyama, Hiroshi Matsumoto

المصدر: Brain and Development. 40:891-896

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d40c36611a42f11572de462cf407c7c8
https://doi.org/10.1016/j.braindev.2018.06.009

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Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as a small supernumerary marker chromosome associated with the inv dup(15) syndrome

المؤلفون: Shuan-Pei Lin, Dai-Dyi Town, Schu-Rern Chern, Chien-Wen Yang, Chen-Chi Lee, Chih-Ping Chen, Shin-Wen Chen, Wayseen Wang, Yen-Ni Chen, Peih-Shan Wu

المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 55, Iss 5, Pp 728-732 (2016)

مصطلحات موضوعية: Adult, Genetic Markers, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Chromosome Disorders, lcsh:Gynecology and obstetrics, inverted duplication of proximal chromosome 15 syndrome, 03 medical and health sciences, Dicentric chromosome, Chromosome 15, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Obstetrics and Gynaecology, medicine, Humans, isodicentric chromosome 15 syndrome, Small supernumerary marker chromosome, In Situ Hybridization, Fluorescence, lcsh:RG1-991, Chromosomes, Human, Pair 15, Comparative Genomic Hybridization, medicine.diagnostic_test, business.industry, Infant, Newborn, Obstetrics and Gynecology, Karyotype, biochemical phenomena, metabolism, and nutrition, Molecular biology, Isodicentric chromosome 15 syndrome, 030104 developmental biology, tetrasomy 15q, Karyotyping, Chromosome Inversion, dup, Amniocentesis, Female, business, 030217 neurology & neurosurgery, Maternal Age, Fluorescence in situ hybridization, Comparative genomic hybridization, small supernumerary marker chromosome 15

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a4749cded9478ae61b52125866fe8e1
http://www.sciencedirect.com/science/article/pii/S1028455916301395

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Acute lymphoblastic leukemia in a nine-year-old girl with isodicentric chromosome 15 syndrome

المؤلفون: Cristian Locci, Carlo Cosmi, Claudio Fozza, Elisa Ghisu, Gloria Acquaviva, Roberto Antonucci, Anna Maria Marinaro, Nadia Vacca

المصدر: Cancer Genetics. :93-94

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bdc6fbd768277f9b1ce7e5c2be6e2044
https://doi.org/10.1016/j.cancergen.2019.05.001

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Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots

المؤلفون: Saeam Shin, Jong Rak Choi, Hee Jung Chung, Seo Jin Park, John Hoon Rim

المصدر: Annals of Laboratory Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76cd2823ea3372faeb23dbc425cb19e0
http://europepmc.org/articles/PMC4446592

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Mortality in isodicentric chromosome 15 syndrome: The role of SUDEP

المؤلفون: Samhitha Rai, Jonathan Thaler, Orrin Devinsky, Alison Thaler, Carolyn Schanen, Daniel Friedman, Edwin H. Cook

المصدر: Epilepsybehavior : EB. 61

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Chromosome Disorders, Dup15q, Cohort Studies, 03 medical and health sciences, Behavioral Neuroscience, Epilepsy, Death, Sudden, Young Adult, 0302 clinical medicine, Risk Factors, Seizures, Cause of Death, medicine, Humans, Registries, Psychiatry, Child, Cause of death, Retrospective Studies, Chromosomes, Human, Pair 15, business.industry, Incidence (epidemiology), Incidence, Case-control study, Retrospective cohort study, medicine.disease, Isodicentric chromosome 15 syndrome, 030104 developmental biology, Neurology, Case-Control Studies, Child, Preschool, Anticonvulsants, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0184f885acf4a1b1c4042a0b10d10aa
https://pubmed.ncbi.nlm.nih.gov/27218684

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8

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9

دورية أكاديمية

لا يتم عرض هذه النتيجة على الضيوف.
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10

دورية أكاديمية

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تسجيل الدخول للوصول الكامل.

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