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المؤلفون: Andrew H. Crosby, Emma L. Baple, Chloe Payne, Asma Gul, Claire Prince, Abida Akbar, Gaurav V. Harlalka, Wasim Ahmad, James Fasham
المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
BMC Medical Geneticsمصطلحات موضوعية: Male, Exome sequencing, 0301 basic medicine, 030105 genetics & heredity, medicine.disease_cause, DSG1, Keratoderma, Palmoplantar, Ethnicity, Antigens, Ly, Pakistan, Variant, Child, Genetics (clinical), media_common, Genetics, Mutation, Desmoglein 1, Homozygote, Middle Aged, Pedigree, 3. Good health, SLURP1, Codon, Nonsense, Female, Research Article, Adult, Heterozygote, lcsh:Internal medicine, Adolescent, Genotype, lcsh:QH426-470, media_common.quotation_subject, Nonsense, Hyperkeratosis, Biology, Young Adult, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, Palmoplantar keratoderma, lcsh:RC31-1245, Genetic Association Studies, Genetic heterogeneity, Genodermatosis, Genetic Variation, medicine.disease, Urokinase-Type Plasminogen Activator, Human genetics, lcsh:Genetics, 030104 developmental biology, Mal de Meleda
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1177f132c6f4bacf94c73daba6f7e840Test
http://link.springer.com/article/10.1186/s12881-019-0872Test-1 -
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المؤلفون: Xiaojia Zhai, Zheng Wang, Bin Mao, Tao Yang, Xue Zhang, Siyu Chen, Xin Chen, Lulu Li, Xiuli Zhao, Xiumei Yu
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-9 (2018)مصطلحات موضوعية: Male, 0301 basic medicine, DNA Mutational Analysis, 030105 genetics & heredity, medicine.disease_cause, Genotype-phenotype distinction, Child, Genetics (clinical), Aged, 80 and over, Genetics, Sanger sequencing, Mutation, Neurofibromin 1, Middle Aged, Phenotype, symbols, Female, Restriction fragment length polymorphism, Research Article, Adult, lcsh:Internal medicine, Heterozygote, Neurofibromatosis 1, lcsh:QH426-470, Adolescent, Genotype, Pseudogene, Biology, Young Adult, 03 medical and health sciences, symbols.namesake, Germline mutation, Asian People, medicine, Humans, Neurofibromatosis, lcsh:RC31-1245, Gene, Genetic Association Studies, Aged, Chinese, medicine.disease, eye diseases, lcsh:Genetics, Clinical manifestations, 030104 developmental biology, The NF1 gene, Multiplex Polymerase Chain Reaction, Neurofibromatosis type 1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9027063510c85fddbb2c5634f028926Test
https://doi.org/10.1186/s12881-018-0615-8Test -
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المؤلفون: Moon Woo Seong, Eun Kyung Ra, Man Jin Kim, Kyu Eun Lee, Sung Sup Park, Jee Soo Lee, Jung Hee Kim, Joon Mo Hong, Seung Jun Lee, Ji Hyun Lee, Soo Hyun Seo
المصدر: BMC Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Risk, Genotype-phenotype correlation, von Hippel-Lindau Disease, Adolescent, Genotype, Mutation, Missense, Biology, urologic and male genital diseases, medicine.disease_cause, Frameshift mutation, 03 medical and health sciences, Exon, Young Adult, Hemangioblastoma, Republic of Korea, Genetics, medicine, Missense mutation, Humans, Hypoxia-inducible factor 1, Genetics(clinical), Von Hippel–Lindau disease, Child, Genetics (clinical), Genetic Association Studies, Mutation, Binding Sites, Polymorphism, Genetic, Brain, Middle Aged, medicine.disease, Hypoxia-Inducible Factor 1, alpha Subunit, Phenotype, Pedigree, 030104 developmental biology, Von Hippel-Lindau Tumor Suppressor Protein, Female, Protein Binding, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56895aec94c4ef7648ed0e0064fc5565Test
https://pubmed.ncbi.nlm.nih.gov/27439424Test