المؤلفون: Kashevarova, Anna A.^Aff3, Lebedev, Igor N.^Aff4

المساهمون: Li, Peining, editor^Aff1, Liehr, Thomas, editor^Aff2

المصدر: Human Ring Chromosomes : A Practical Guide for Clinicians and Families. :151-158

المؤلفون: Cecilia Rengifo Rojas, Jil Cercy, Sophie Perillous, Céline Gonthier-Guéret, Bertille Montibus, Stéphanie Maupetit-Méhouas, Astrid Espinadel, Marylou Dupré, Charles C. Hong, Kenichiro Hata, Kazuhiko Nakabayashi, Antonius Plagge, Tristan Bouschet, Philippe Arnaud, Isabelle Vaillant, Franck Court

المصدر: HGG Advances, Vol 5, Iss 2, Pp 100271- (2024)

مصطلحات موضوعية: genomic imprinting, chromatin looping, brain-specific expression, remote transcriptional control, Birk-Barel, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724000101; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/d7cbd17169d146879f77c972bc9cd96b

المؤلفون: Qian Zhang, Zhen Qin, Ruolan Hu, Yifei Li, Fan Yang, Jinrong Li

المصدر: Frontiers in Medicine, Vol 10 (2023)

مصطلحات موضوعية: KCNK9, OSA, Birk-Barel syndrome, TASK3 channel, case report, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2023.1180337/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/88525e86b6b044eb938db9c249171009

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المؤلفون: Anna A. Kashevarova, Tatyana V. Nikitina, Larisa I. Mikhailik, Elena O. Belyaeva, Stanislav A. Vasilyev, Mariya E. Lopatkina, Dmitry A. Fedotov, Elizaveta A. Fonova, Aleksei A. Zarubin, Aleksei A. Sivtsev, Nikolay A. Skryabin, Lyudmila P. Nazarenko, Igor N. Lebedev

المصدر: Genes, Vol 11, Iss 12, p 1473 (2020)

مصطلحات موضوعية: ring chromosome 8, invdupdel(8p), Birk-Barel syndrome, KCNK9, imprinting, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/11/12/1473; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/1094ef1be5874118a02c32731e4a7343

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المؤلفون: Abymael Frontanes-Heredia, Wilfredo De Jesús-Rojas, Sherry L Santiago-Castro, Michael A Ramirez-Arenalde, Wilmarie J Bruckman-Blanco

المصدر: Cureus

مصطلحات موضوعية: Non-Mendelian inheritance, Subfamily, Pulmonology, Pediatrics, Intellectual disability, medicine, Genetics, Missense mutation, Allele, Imprinting (psychology), kcnk9, task3, hypotonia, puerto rico, business.industry, General Engineering, central apneas, Chromosome, maternal inheritance, medicine.disease, Hypotonia, intellectual disability, birk-barel syndrome, non invasive ventilation, medicine.symptom, imprinting, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84091ef7349f714ea388e3c6befccd37
http://europepmc.org/articles/PMC8301725

المؤلفون: Elizaveta A. Fonova, Elena O. Belyaeva, I. N. Lebedev, N.A. Skryabin, T. V. Nikitina, Dmitry A Fedotov, Lyudmila P. Nazarenko, A. A. Kashevarova, Aleksei A Sivtsev, S. A. Vasilyev, M.E. Lopatkina, Larisa I Mikhailik, Aleksei A. Zarubin

المصدر: Genes
Genes, Vol 11, Iss 1473, p 1473 (2020)
Volume 11
Issue 12

مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Monosomy, lcsh:QH426-470, Karyotype, Ring chromosome, Nerve Tissue Proteins, Biology, KCNK9, Article, Craniofacial Abnormalities, Genomic Imprinting, 03 medical and health sciences, Potassium Channels, Tandem Pore Domain, 0302 clinical medicine, Intellectual Disability, Gene duplication, Genetics, medicine, Humans, Ring Chromosomes, Allele, ring chromosome 8, Genetics (clinical), Mosaicism, Membrane Proteins, medicine.disease, lcsh:Genetics, Phenotype, Birk-Barel syndrome, 030104 developmental biology, Child, Preschool, Karyotyping, Mutation, Muscle Hypotonia, Chromosome Deletion, imprinting, Genomic imprinting, invdupdel(8p), 030217 neurology & neurosurgery, Chromosomes, Human, Pair 8, SNP array

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecfd58477e37ec93e0edf48394fd14e5
https://doi.org/10.3390/genes11121473

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