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1دورية أكاديمية
المؤلفون: Qiqing Sun, Jun Guo, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Yuanying Chen, Weili Yang, Wei Li, Yingjun Feng
المصدر: Pediatric Investigation, Vol 4, Iss 1, Pp 11-16 (2020)
مصطلحات موضوعية: Left ventricular non‐compaction cardiomyopathy, Dilated cardiomyopathy, RNA‐binding motif protein 20, Trio whole‐exome sequencing, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2574-2272Test
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2دورية أكاديمية
المؤلفون: Pengfei Zhang, Xuyun Hu, Ruolan Guo, Jun Guo, Wei Li, Suyun Qian, Chanjuan Hao, Jun Liu
المصدر: Pediatric Investigation, Vol 3, Iss 2, Pp 86-90 (2019)
مصطلحات موضوعية: HMGCS2 mutation, Hypoketotic hypoglycemia, Mitochondrial HMG‐CoA synthase deficiency, Pediatric intensive care unit, Whole‐exome sequencing, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2574-2272Test
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3
المؤلفون: Ruolan Guo, Chanjuan Hao, Weili Yang, Jun Guo, Xuyun Hu, Yuanying Chen, Yingjun Feng, Wei Li, Qiqing Sun
المصدر: Pediatric Investigation, Vol 4, Iss 1, Pp 11-16 (2020)
Pediatric Investigationمصطلحات موضوعية: Genetics, medicine.medical_specialty, Original Arti Cle, business.industry, Trio whole‐exome sequencing, Cardiomyopathy, Dilated cardiomyopathy, Genomics, RNA‐binding motif protein 20, medicine.disease, Phenotype, Pediatrics, RJ1-570, Exon, Left ventricular non‐compaction cardiomyopathy, Pediatrics, Perinatology and Child Health, medicine, Medical genetics, Original Article, business, Gene, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23580fd91fac2e26187c5014dacb6d07Test
https://pubmed.ncbi.nlm.nih.gov/32851336Test -
4
المؤلفون: Chanjuan Hao, Pengfei Zhang, Suyun Qian, Jun Liu, Xuyun Hu, Ruolan Guo, Jun Guo, Wei Li
المصدر: Pediatric Investigation, Vol 3, Iss 2, Pp 86-90 (2019)
Pediatric Investigationمصطلحات موضوعية: Proband, medicine.medical_specialty, Hypoglycemia, Bioinformatics, Pediatrics, RJ1-570, law.invention, Whole‐exome sequencing, law, HMGCS2 mutation, Genotype, medicine, Pediatric intensive care unit, Exome sequencing, Hypoketotic hypoglycemia, Molecular pathology, business.industry, Original Articles, medicine.disease, Intensive care unit, Mitochondrial HMG‐CoA synthase deficiency, Pediatrics, Perinatology and Child Health, Medical genetics, Original Article, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abce01353c62c7051bc71a3251f27336Test
https://pubmed.ncbi.nlm.nih.gov/32851297Test -
5
المؤلفون: Zhan Qi, Jun Guo, Ruolan Guo, Wei Li, Ni Xin, Chanjuan Hao
المصدر: Pediatric Investigation
مصطلحات موضوعية: 0301 basic medicine, Proband, Compound heterozygosity, 03 medical and health sciences, Whole‐exome sequencing, 0302 clinical medicine, Disordered steroidogenesis, POR deficiency, medicine, Exome, Exome sequencing, Cytochrome P450 oxidoreductase, Genetics, business.industry, Crouzon syndrome, Original Articles, Micropenis, medicine.disease, POR Deficiency, 030104 developmental biology, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Original Article, Compound heterozygous mutation, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b18b09fa3dc56a423e04faf2851c3e3Test
https://pubmed.ncbi.nlm.nih.gov/32851239Test