المؤلفون: Linh Thi Truc Pham, Xinh Thi Phan, Thuy Thi Thanh Pham, Vy Nguyen, Tuan Minh Nguyen, Anh Tran, Anh Nguyen Lien Phan, Sigrid M. A. Swagemakers, Petrus Martinus van Hagen, Khanh Thi Xuan Luong, Nghia Huynh, Tam Thi Minh Nguyen, Chi-Bao Bui, Cuc Tran Thu Cao, Duong Thuy Nguyen

المساهمون: Pathology, Internal Medicine, Immunology

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics and Genomic Medicine, 9(8):e1732. John Wiley & Sons Inc.
Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Hyper IgM syndrome, anti‐phospholipid syndrome, Adolescent, CD40 Ligand, QH426-470, 030105 genetics & heredity, medicine.disease_cause, primary immunodeficiency, Clinical Reports, 03 medical and health sciences, Western blot, Genotype, Genetics, medicine, Humans, Child, Molecular Biology, CD40 ligand, Genetics (clinical), Exome sequencing, Mutation, Clinical Report, medicine.diagnostic_test, business.industry, Hyper-IgM Immunodeficiency Syndrome, Type 1, hyper‐IgM syndrome, medicine.disease, Antiphospholipid Syndrome, 030104 developmental biology, Otitis, Phenotype, Immunology, Primary immunodeficiency, whole‐exome sequencing, medicine.symptom, Complication, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db0f8bd5d9220d5f640107882e121896Test
http://europepmc.org/articles/PMC8404229Test

المؤلفون: Charles Ákos Szabó, Joshua Samuels, Hope Northrup, Kate Mowrey, Shannon Mulligan, Deborah A. Pearson, Mary Kay Koenig

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, Genetic counseling, tuberous sclerosis complex, 030105 genetics & heredity, Tuberous Sclerosis Complex 1 Protein, Clinical Reports, genetic testing, 03 medical and health sciences, Tuberous sclerosis, Tuberous Sclerosis, Tuberous Sclerosis Complex 2 Protein, Gene duplication, Genetics, medicine, Humans, Medical diagnosis, Molecular Biology, Genetics (clinical), Genetic testing, Clinical Report, genetic counseling, medicine.diagnostic_test, business.industry, Middle Aged, medicine.disease, TSC2, Pedigree, nervous system diseases, lcsh:Genetics, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, Mutation, Etiology, Female, TSC1, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e25aac135768958a44a1d2a5eb0a1053Test
https://doaj.org/article/64f396b35ccd4d6f937c4df61230e512Test

المؤلفون: Xiaojia Wang, Junrong Yan, Ziyan Yang, Yabing Zheng, Xue Wu, Wen-Ming Cao, Yang W. Shao, Zhanhong Chen, Tian Sun, Ruoying Yu, Xiying Shao

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: 0301 basic medicine, Oncology, Receptor, ErbB-2, medicine.medical_treatment, Drug resistance, 030105 genetics & heredity, medicine.disease_cause, chemotherapy, Circulating Tumor DNA, Targeted therapy, Antineoplastic Agents, Immunological, Trastuzumab, skin and connective tissue diseases, ERBB2, Genetics (clinical), Mutation, Neurofibromin 1, medicine.diagnostic_test, ErbB Receptors, trastuzumab, Biomarker (medicine), Female, Original Article, medicine.drug, Adult, medicine.medical_specialty, lcsh:QH426-470, Class I Phosphatidylinositol 3-Kinases, Breast Neoplasms, 03 medical and health sciences, Breast cancer, breast cancer, Internal medicine, Biopsy, Biomarkers, Tumor, Genetics, medicine, Humans, Liquid biopsy, Molecular Biology, neoplasms, drug resistance, business.industry, Histone-Lysine N-Methyltransferase, Original Articles, ctDNA, medicine.disease, lcsh:Genetics, 030104 developmental biology, Drug Resistance, Neoplasm, Tumor Suppressor Protein p53, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bb8954d78984f1000f5dbd8182ca34bTest
https://doaj.org/article/860204ae204a497986d88eec577b5261Test

المؤلفون: Noralane M. Lindor, Lederle Tenney, Anjali R. Truitt, David L. Veenstra, Douglass Fisher, Gail P. Jarvik, Mercy Y. Laurino, Stephanie M. Fullerton, Polly A. Newcomb

المصدر: Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Genetic Research, medicine.medical_specialty, Operations research, Colorectal cancer, return of research results, CLIA verification, 030105 genetics & heredity, Insurance Coverage, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Surveys and Questionnaires, Genetics, medicine, Humans, Family, Genetic Testing, Registries, Clinical care, Young adult, Molecular Biology, Genetics (clinical), Aged, Mismatch Repair Endonuclease PMS2, Genetic testing, medicine.diagnostic_test, business.industry, Original Articles, Cancer registry, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, 3. Good health, DNA-Binding Proteins, MutS Homolog 2 Protein, 030220 oncology & carcinogenesis, Family medicine, Original Article, Female, Laboratories, MutL Protein Homolog 1, business, Insurance coverage

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f54659c92b889b8439704618f1da9463Test
https://doi.org/10.1002/mgg3.328Test