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1
المؤلفون: Zimeng Ye, Sufang Lin, Xia Zhao, Mark F. Bennett, Natasha J. Brown, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Ravikiran Vedururu, Tom Witkowski, Fiona Gardiner, Chloe Stutterd, Jing Duan, Saul A. Mullen, George McGillivray, Simon Bodek, Giulia Valente, Matthew Reagan, Yi Yao, Lin Li, Li Chen, Amber Boys, Thiuni N. Adikari, Dezhi Cao, Zhanqi Hu, Victoria Beshay, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand
المصدر: Human mutationREFERENCES. 43(12)
مصطلحات موضوعية: Tuberous Sclerosis, Mosaicism, Tumor Suppressor Proteins, Tuberous Sclerosis Complex 2 Protein, Mutation, Genetics, Humans, Genetics (clinical), Tuberous Sclerosis Complex 1 Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::246cc95ca26153c3f65d149ecfbdc005Test
https://pubmed.ncbi.nlm.nih.gov/36030538Test -
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المؤلفون: Jieliang Tan, Yangran Chen, Wei Ma, Liangping Luo, Victor W Zhang, Jing Wang, Qinlong Zeng, Qing Li, Hongqing Jiang, Runze Jiang, Hui Tang, Jia Tang
المصدر: Journal of Clinical Laboratory Analysis
مصطلحات موضوعية: 0301 basic medicine, Microbiology (medical), Male, new clinical symptoms, RNA Splicing, Clinical Biochemistry, Muscle Proteins, Muscle disorder, Protein Serine-Threonine Kinases, Bioinformatics, centronuclear myopathy, 03 medical and health sciences, 0302 clinical medicine, Asian People, Pregnancy, medicine, Diseases in Twins, Immunology and Allergy, Humans, Centronuclear myopathy, Exome sequencing, Genetic Association Studies, Research Articles, Arthrogryposis, Genetic heterogeneity, business.industry, Biochemistry (medical), Homozygote, Public Health, Environmental and Occupational Health, Facial weakness, Infant, Newborn, Hematology, medicine.disease, Congenital myopathy, Hypotonia, novel variant, SPEG, Medical Laboratory Technology, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Female, medicine.symptom, business, Myopathies, Structural, Congenital, Research Article, medical exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1baaad6d714419fb4f16ca39c616b3aeTest
https://pubmed.ncbi.nlm.nih.gov/31625632Test -
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المؤلفون: Bobby G. Ng, Madhuri Hegde, Melanie A. Jones, Devin Rhodenizer, Victor W. Zhang, Hudson H. Freeze, Shruti Bhide, Jessica J. Sun, Alice K. Tanner, Ephrem L H Chin
المصدر: Genetics in Medicine. 13:921-932
مصطلحات موضوعية: Genetics, Mutation, animal structures, Glycosylation, Heterogeneous group, Sequence analysis, Diagnostic test, macromolecular substances, Biology, Bioinformatics, medicine.disease_cause, DNA sequencing, law.invention, carbohydrates (lipids), chemistry.chemical_compound, chemistry, law, medicine, lipids (amino acids, peptides, and proteins), Base sequence, Genetics (clinical), Polymerase chain reaction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::22fbd018fcc3bb0dc054671306445555Test
https://doi.org/10.1097/gim.0b013e318226fbf2Test