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1
المؤلفون: Omar Hilmi, Russell Drummond, Frances McManus, Gemma Currie, David M. Carty, Rachel Harte, Kate Hughes
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: business.industry, Endocrinology, Diabetes and Metabolism, Cancer research, Tumor Biology, Medicine, MEN1, Presentation (obstetrics), Endocrine Neoplasia Case Reports I, business, Multiple endocrine neoplasia, medicine.disease, Gene, AcademicSubjects/MED00250
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc4640bfd2a0a5f9c8d33c425b5edecc
https://doi.org/10.1210/jendso/bvaa046.1704 -
2
المؤلفون: Rachel Harte, Michele Cargill, Yuan-Yuan Ho, Shan Yang, Laura Murillo, Nicole Faulkner, Daniel Beltran, Xu Li, Robert L. Nussbaum, K. Robinson
المصدر: Molecular Genetics and Metabolism. 129:S135-S136
مصطلحات موضوعية: Genetics, Enzyme testing, Endocrinology, Endocrinology, Diabetes and Metabolism, Tay-Sachs disease, medicine, Biology, medicine.disease, Carrier screening, Molecular Biology, Biochemistry
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3
المؤلفون: Keith Nykamp, Michael Anderson, Martin Powers, John Garcia, Blanca Herrera, Yuan-Yuan Ho, Yuya Kobayashi, Nila Patil, Janita Thusberg, Marjorie Westbrook, Scott Topper, Sienna Aguilar, Swaroop Aradhya, Daniel Beltran, Brandon Bunker, Amy Daly, Anne Deucher, Tali Ekstein, Ali Entezam, Karl Erhard, Ed Esplin, Jennifer Fulbright, Amy Fuller, Kristen McDonald Gibson, Tina Hambuch, Rachel Harte, Christy Hartshorne, Eden Haverfield, Nastaran Heidari, Michelle Hogue, Daniela Iacoboni, Britt Johnson, Hio Chung Kang, Rachel Lewis, Shiloh Martin, Sarah McCalmon, Scott Michalski, Cindy Morgan, Laura Murillo, Piper Nicolosi, Karen Ouyang, Carolina Pardo, Rita Quintana, Marina Rabideau, Darlene Riethmaier, Amanda Stafford, Jackie Tahiliani, Chris Tan, S. Paige Taylor, Shu-Huei Wang, Hannah White, Ian Wilson, Tom Winder, Michelle K. Zeman
المصدر: Genetics in Medicine
مصطلحات موضوعية: 0301 basic medicine, Information retrieval, Genome, Human, Computer science, variant interpretation, Published Erratum, MEDLINE, Correction, Genetic Variation, High-Throughput Nucleotide Sequencing, ACMG laboratory guideline, Genomics, Sequence Analysis, DNA, clinical genetic testing, 030105 genetics & heredity, clinical interpretation, 03 medical and health sciences, 030104 developmental biology, Humans, Original Research Article, Genetic Testing, variant classification, Software, Genetics (clinical)
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4
المؤلفون: Rachel Harte, Tom Winder, Yuan-Yuan Ho, Daniel Beltran, Michelle Fox, Britt Johnson, Stacey Wong, Laura Murillo, Hannah White
المصدر: Molecular Genetics and Metabolism. 123:S101-S102
مصطلحات موضوعية: Endocrinology, medicine.diagnostic_test, business.industry, Pathognomonic, Endocrinology, Diabetes and Metabolism, Interpretation (philosophy), Genetics, Medicine, Computational biology, business, Molecular Biology, Biochemistry, Genetic testing
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5
المؤلفون: Daniel Beltran, Stacey Wong, Tom Winder, Yuan-Yuan Ho, Laura Murillo, Michelle Fox, Rachel Harte, Hannah White, Britt Johnson
المصدر: Molecular Genetics and Metabolism. 123:S64
مصطلحات موضوعية: Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, Physiology, Medicine, Metabolism, business, Molecular Biology, Biochemistry
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6
المؤلفون: Stacey Wong, Rachel Harte, Tom Winder, Michelle Fox, Hannah White, Laura Murillo, Britt Johnson, Yuan-Yuan Ho, Daniel Beltran
المصدر: Molecular Genetics and Metabolism. 123:S148
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Yield (chemistry), Genetics, Computational biology, Copy-number variation, Biology, Molecular Biology, Biochemistry, DNA sequencing
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7
المؤلفون: Rachel Harte, Christos A. Ouzounis
المصدر: FEBS letters. 514(2-3)
مصطلحات موضوعية: Potassium Channels, Protein family, Archaeal Proteins, Sequence clustering, Biophysics, Ion Channel Protein, Computational biology, Biology, Biochemistry, Genome, Ion Channels, Protein structure, Bacterial Proteins, Structural Biology, Phylogenetics, Genetics, Cluster analysis, Molecular Biology, Ion channel, Phylogeny, Sequence Homology, Amino Acid, Computational Biology, Genome analysis, Cell Biology, Protein Structure, Tertiary, Protein families, Eukaryotic Cells, Multigene Family