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المؤلفون: Pauline Arnaud, Zakaria Mougin, Catherine Boileau, Carine Le Goff
المصدر: Frontiers in Genetics, Vol 12 (2021)
Frontiers in Geneticsمصطلحات موضوعية: musculoskeletal diseases, Genetics, Marfan syndrome, congenital, hereditary, and neonatal diseases and abnormalities, extracellular matrix, ADAMTS, Marfanoid, Review, QH426-470, Biology, medicine.disease, Phenotype, Short stature, Knockout mouse, medicine, Molecular Medicine, medicine.symptom, fibrillin-1, Gene, Fibrillin, Genetics (clinical), acromelic dysplasias
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7df4603d9f935a1e8362d39906c6ef5Test
https://doi.org/10.3389/fgene.2021.734718Test -
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المؤلفون: Chenguang Yu, Qianqian Li, Xiangdong Kong, Hui Xiong, Zhanni Chen, Panlai Shi, Jingjing Meng, Ranran Li
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: Duchenne muscular dystrophy, musculoskeletal diseases, Genetics, Whole genome sequencing, congenital, hereditary, and neonatal diseases and abnormalities, breakpoints, QH426-470, Biology, medicine.disease, whole exome sequencing, Exon, partial exonic deletion, medicine, Molecular Medicine, long-read whole-genome sequencing, Gene, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca3f088842cf5333840a332c7a3e3903Test
https://doi.org/10.3389/fgene.2021.762987Test -
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المؤلفون: Matthew Hoi Kin Chau, Jicheng Qian, Zihan Chen, Ying Li, Yu Zheng, Wing Ting Tse, Yvonne K. Kwok, Tak Yeung Leung, Zirui Dong, Kwong Wai Choy
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)مصطلحات موضوعية: Genetics, de novo, congenital, hereditary, and neonatal diseases and abnormalities, prenatal diagnosis, endocrine system diseases, Genetic counseling, Prenatal diagnosis, QH426-470, Biology, inherited, DNA sequencing, Recurrence risk, mental disorders, Molecular Medicine, Copy-number variation, Gene, low-pass genome sequencing, Genetics (clinical), Likely pathogenic, Original Research, copy number variants
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1486194a85a5d6be4c4ad4b0f6a5688eTest
https://doi.org/10.3389/fgene.2021.742325Test -
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المؤلفون: Liming Cheng, Yanjun Lu, Ai Zhang, Ming Huang, Li Chen, Xiong Wang, Qun Hu
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 11 (2020)مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, Anemia, Biology, medicine.disease_cause, ANK1, Hereditary spherocytosis, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, variable expressivity, medicine, Genetics, Missense mutation, hereditary spherocytosis, Indel, Gene, Genetics (clinical), Sanger sequencing, Mutation, Brief Research Report, medicine.disease, SPTB, lcsh:Genetics, 030104 developmental biology, 030220 oncology & carcinogenesis, symbols, Molecular Medicine, mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::652f92afaf78c4ccc459439325bfe541Test
http://europepmc.org/articles/PMC7461774Test -
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المؤلفون: Gergely Büki, Anna Zsigmond, Márta Czakó, Renáta Szalai, Gréta Antal, Viktor Farkas, György Fekete, Dóra Nagy, Márta Széll, Marianna Tihanyi, Béla Melegh, Kinga Hadzsiev, Judit Bene
المصدر: Frontiers in Genetics, Vol 12 (2021)
Frontiers in Geneticsمصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Disease, 030105 genetics & heredity, QH426-470, 03 medical and health sciences, multiplex ligation-probe dependent amplification, medicine, Genetics, type-2 NF1 microdeletion, In patient, Copy-number variation, Neurofibromatosis, Gene, Genetics (clinical), Original Research, business.industry, Breakpoint, Macrocephaly, copy number variation, medicine.disease, atypical NF1 microdeletion, 030104 developmental biology, type-1 NF1 microdeletion, NF1 gene, array-CGH, Molecular Medicine, medicine.symptom, 17q11.2 deletion syndrome, business, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff2c5d8e35d24c2f7e6e254ad7d6b82fTest
https://www.frontiersin.org/articles/10.3389/fgene.2021.673025/fullTest -
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المؤلفون: Karissa Barthelson, Lachlan Baer, Yang Dong, Melanie Hand, Zac Pujic, Morgan Newman, Geoffrey J. Goodhill, Robert I. Richards, Stephen M. Pederson, Michael Lardelli
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: Genetics, Mutation, congenital, hereditary, and neonatal diseases and abnormalities, biology, Morpholino, Chromosome, chromosome evolution, QH426-470, biology.organism_classification, medicine.disease_cause, zebrafish, FMR1, transcriptome analysis, transcriptional adaptation, Homologous chromosome, medicine, Molecular Medicine, Allele, fragile X syndrome, Zebrafish, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e915969dcb2534a7b92a6039e9ed30dTest
https://www.frontiersin.org/articles/10.3389/fgene.2021.625466/fullTest -
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المؤلفون: Fuying Song, Shunqiao Feng, Rong Liu, Hui Yin, Mu Du, Xiaobo Chen, Xiang Shen
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 11 (2020)مصطلحات موضوعية: Antley–Bixler syndrome, lcsh:QH426-470, business.industry, Spherocytosis, Case Report, Disease, medicine.disease, Bioinformatics, ANK1, DNA sequencing, POR, Hereditary spherocytosis, lcsh:Genetics, multi-system involved, medicine, Genetics, Molecular Medicine, congenital adrenal hyperplasia, Congenital adrenal hyperplasia, hereditary spherocytosis, business, Gene, combined disease symptoms, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a7518fda06bdb81d3e97e3ba58981d6Test
https://pubmed.ncbi.nlm.nih.gov/32973886Test -
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المؤلفون: Ekjot Kaur, Ritu Agrawal, Sagar Sengupta
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)مصطلحات موضوعية: Genome instability, Premature aging, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, tumor suppressor, RecQ helicase, Review, BLM helicase, Gene mutation, oncogene, Genetics, medicine, Bloom syndrome, Neoplastic transformation, Gene, Genetics (clinical), biology, urogenital system, nutritional and metabolic diseases, Helicase, medicine.disease, lcsh:Genetics, neoplastic transformation, biology.protein, Molecular Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92518133ccbebe7975a7f1e6b520cc69Test
https://doi.org/10.3389/fgene.2021.634789Test -
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المؤلفون: Zijian Li, Juan Feng, Zhengwei Yuan
المصدر: Frontiers in Genetics, Vol 11 (2020)
Frontiers in Geneticsمصطلحات موضوعية: Hub genes, bioinformatics analysis, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, lcsh:QH426-470, Microarray, Neural tube defect, weighted gene co-expression network analysis, Spina bifida, Gene regulatory network, hub genes, Computational biology, Biology, medicine.disease, pathological process, nervous system diseases, spina bifida, lcsh:Genetics, microRNA, Genetics, medicine, Molecular Medicine, Gene, Genetics (clinical), Original Research
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee53d1b14a1fa21e1d67f49779d9c64aTest
https://doi.org/10.3389/fgene.2020.583316Test -
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المؤلفون: Yu Yu, Pengjun Zhao, Ying Gao, Ying Liu, Lin Zhao, Aiping Hou, Bowen Du, Bo Chen, Xin Shi
المصدر: Frontiers in Genetics, Vol 11 (2020)
Frontiers in Geneticsمصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, lcsh:QH426-470, Population, Biology, DNA sequencing, Transcriptome, patent ductus arteriosus, 03 medical and health sciences, 0302 clinical medicine, Ductus arteriosus, Genetics, medicine, whole-exome sequencing, Copy-number variation, education, Gene, Genetics (clinical), Exome sequencing, Original Research, education.field_of_study, pathogenesis, congenital heart defects, lcsh:Genetics, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Molecular Medicine, copy number variants
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3763316e788ea70fd9d65378dcd38f4cTest
https://doi.org/10.3389/fgene.2020.600787Test