المؤلفون: Scott Ward, Lindsay Burrage, Jill Rosenfeld, Carlos Bacino, Brendan Lee, William Craigen, Lisa Emrick, Kristen Fisher, Alexandrea Wadley, Chun-Hui Tsai, Paul Benke, Maria Guillen Sacoto, Kimberly Glaser, David Murdock, Luis Rohena, K.E.M. Diderich, H.T. Bruggenwirth, Kimberly Houck

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100376- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S294977442300376X; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/bff0a8660976494ca0870f5dde161473

المؤلفون: Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj

المصدر: HGG Advances, Vol 3, Iss 3, Pp 100102- (2022)

مصطلحات موضوعية: PHF8, X-linked intellectual disability, orofacial clefting, epigenetic gene regulation, histone demethylation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000185; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/a51bea96ddd1445fa536cbf3b76cb27c

المؤلفون: Anne Chun-Hui Tsai, Hsin-Ti Lin, Maxwell Chou, Jessica Bolen, Chelsea Zimmerman, Danielle DeMarzo, Yazmin Enchautegui-Colon

المصدر: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100859- (2022)

مصطلحات موضوعية: Isovaleric acidemia, Hyperammonemia, Carglumic acid, Ammonul, Bone marrow suppression, Granulocyte-colony stimulating factor, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000192; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/f44337c0b363486d8daf0748fc12e319

المؤلفون: Wen-Chun Wang, Chun-Hui Tsai, Kuang-Lung Tsai, Yui-Shin Fran, Chai-Yuan Sheu, Hseu, L.K.

المصدر: Eleventh International Vacuum Microelectronics Conference. IVMC'98 (Cat. No.98TH8382) Vacuum microelectronics Vacuum Microelectronics Conference, 1998. Eleventh International. :38-39 1998

Relation: Eleventh International Vacuum Microelectronics Conference. IVMC'98

المؤلفون: Ching-Cheng Shen, Chun-Hui Tsai, Tzuhui Angie Tseng

المصدر: Leisure Sciences. :1-25

مصطلحات موضوعية: Sociology and Political Science, Tourism, Leisure and Hospitality Management, Environmental Science (miscellaneous)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a2b4860ac1f21636dc1dfabc91a2602e
https://doi.org/10.1080/01490400.2022.2061654

المؤلفون: Sobering, Andrew K., Bryant, Laura M., Li, Dong, McGaughran, Julie, Maystadt, Isabelle, Moortgat, Stephanie, Graham, John M., Jr., van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Vogt, Julie, Morton, Jenny, Brasch-Andersen, Charlotte, Steenhof, Maria, Hansen, Lars Kjærsgaard, Adler, Élodie, Lyonnet, Stanislas, Pingault, Veronique, Sandrine, Marlin, Ziegler, Alban, Donald, Tyhiesia, Nelson, Beverly, Holt, Brandon, Petryna, Oleksandra, Firth, Helen, McWalter, Kirsty, Zyskind, Jacob, Telegrafi, Aida, Juusola, Jane, Person, Richard, Bamshad, Michael J., Earl, Dawn, Chun-Hui Tsai, Anne, Yearwood, Katherine R., Marco, Elysa, Nowak, Catherine, Douglas, Jessica, Hakonarson, Hakon, Bhoj, Elizabeth J.

المصدر: In Human Genetics and Genomics Advances 12 January 2023 4(1)

المؤلفون: Kami Wolfe Schneider, Adam L. Green, Thomas R. Caulfield, Gregory A. Norris, Anne Chun hui Tsai, Yuan Haw Wu

المصدر: Cancer Genetics. :18-24

مصطلحات موضوعية: Male, Cancer Research, Cell signaling, Biology, Germline, Immunophenotyping, 03 medical and health sciences, 0302 clinical medicine, Protein Domains, Neoplasms, hemic and lymphatic diseases, Glioma, Genetics, medicine, Humans, Proto-Oncogene Proteins c-cbl, Child, Molecular Biology, Gene, Germ-Line Mutation, chemistry.chemical_classification, DNA ligase, Infant, Myeloid leukemia, Cancer, medicine.disease, Protein ubiquitination, Pedigree, Leukemia, Myeloid, Acute, chemistry, Child, Preschool, 030220 oncology & carcinogenesis, Cancer research, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f90a721c80bc1ba1ec7de4a58ac7b0cf
https://doi.org/10.1016/j.cancergen.2021.01.008

المؤلفون: Hsin-Ti Lin, Yazmin Enchautegui-Colon, Yu-Ren Huang, Chelsea Zimmerman, Danielle DeMarzo, Anne Chun-Hui Tsai

المصدر: Molecular Genetics and Metabolism Reports. 33:100942

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::525f6ebdcd5451dd4634ae65f136b5db
https://doi.org/10.1016/j.ymgmr.2022.100942

المؤلفون: Andrew K, Sobering, Laura M, Bryant, Dong, Li, Julie, McGaughran, Isabelle, Maystadt, Stephanie, Moortgat, John M, Graham, Arie, van Haeringen, Claudia, Ruivenkamp, Roos, Cuperus, Julie, Vogt, Jenny, Morton, Charlotte, Brasch-Andersen, Maria, Steenhof, Lars Kjærsgaard, Hansen, Élodie, Adler, Stanislas, Lyonnet, Veronique, Pingault, Marlin, Sandrine, Alban, Ziegler, Tyhiesia, Donald, Beverly, Nelson, Brandon, Holt, Oleksandra, Petryna, Helen, Firth, Kirsty, McWalter, Jacob, Zyskind, Aida, Telegrafi, Jane, Juusola, Richard, Person, Michael J, Bamshad, Dawn, Earl, Anne Chun-Hui, Tsai, Katherine R, Yearwood, Elysa, Marco, Catherine, Nowak, Jessica, Douglas, Hakon, Hakonarson, Elizabeth J, Bhoj

المصدر: HGG advances. 3(3)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c452bdbda862631d8b909d28ffff1bef
https://pubmed.ncbi.nlm.nih.gov/36583168

المؤلفون: Molly C Schroeder, Maren T. Scheuner, Elaine Maria Pereira, Jun Shen, David T. Miller, Acmg Professional Practice, Scott E. Hickey, Jennifer Malinowski, Jennifer L Gannon, Laurie A. Demmer, Anne Chun-Hui Tsai

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, 030105 genetics & heredity, systematic evidence review, DNA sequencing, 03 medical and health sciences, Quality of life, Exome Sequencing, Intellectual disability, medicine, Humans, Exome, Guideline development, In patient, Child, Genetics (clinical), congenital anomalies, business.industry, Chromosome Mapping, medicine.disease, Evidence based review, ACMG Systematic Evidence Review, 030104 developmental biology, intellectual disability, Quality of Life, business, Psychosocial, clinical genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::974b05a04f4e7520421500bf3c8e9a1e
https://doi.org/10.1038/s41436-020-0771-z