المؤلفون: Kathleen Schieffer, David Gordon, Gregory Wheeler, Grant Lammi, Don Corsmeier, Douglas Depoorter, Liana Hernandez, Jessica Howard, Vijayakumar Jayaraman, Prasad Kopparapu, Jordan Olberding, Melanie Babcock, Ying-Chen Claire Hou, Marco Leung, Mariam Mathew, Yassmine Akkari, Peter White, Richard Wilson, Elaine Mardis, Catherine Cottrell

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100057- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423000572Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/dfa3f76aa24744049ef7fd16f9678bf7Test

المؤلفون: Erica Macke, Kathleen Schieffer, Mariam Mathew, Marco Leung, Yassmine Akkari, Melanie Babcock, Ying-Chen Claire Hou, Liana Hernandez, Jordan Olberding, Prasad Kopparapu, Vijayakumar Jayaraman, Don Corsmeier, Jessica Howard, Douglas Depoorter, Kristin Zajo, Peter White, Benjamin Kelly, Richard Wilson, Elaine Mardis, Catherine Cottrell

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100089- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423000894Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/e31c753fd22d4ef7ae49f675483b4d24Test

المؤلفون: Wesley Goar, Kori Kuzma, Kathryn Stahl, Kyle Voytovich, Mariam Mathew, Erica Macke, Melanie Babcock, Ying-Chen Claire Hou, Liana Hernandez, Jordan Olberding, Prasad Kopparapu, Vijayakumar Jayaraman, Don Corsmeier, Jessica Howard, Douglas Depoorter, Ashley Kubatko, Grant Lammi, Marco Leung, Kathleen Schieffer, Yassmine Akkari, Elaine Mardis, Peter White, Catherine Cottrell, Alex Wagner

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100719- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423007197Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/3e0851dba6b04a80bf13ca15cef996daTest

المؤلفون: Kathleen Schieffer, Mariam Mathew, Kristy Lee, Samantha Choi, Elizabeth Varga, Emma Garval, Olivia Grischow, Aimee Jalkanen, Vijayakumar Jayaraman, Don Corsmeier, Ben Kelly, Peter Chang, James Fitch, Katherine Miller, Daniel Koboldt, Peter White, Vincent Magrini, Richard Wilson, Elaine Mardis, Catherine Cottrell

المصدر: Cancer Genetics. :37-38

مصطلحات موضوعية: Cancer Research, Genetics, Molecular Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c7df5d4aa647a1db68fef62ff375f1ddTest
https://doi.org/10.1016/j.cancergen.2022.10.120Test

المؤلفون: Gregory L. Wheeler, Ingrid Chen, Huachun Zhong, Matthew J. Schultz, Bimal Chaudhari, Spencer Ravagnani, Catherine E. Cottrell, Vincent Magrini, Harkness Kuck, Jeremy Pitts, Kristen M. Leraas, Natalie Bir, Carly Grubbs, Adam Herman, Don Corsmeier, Eric Bosley, Richard K. Wilson, Vijayakumar Jayaraman, Peter White, Kristy Lee, Patrick J. Brennan, Benjamin J. Kelly, Elaine R. Mardis, Jesse Hunter, Grant E. Lammi, Aimee Jalkanen, David Gordon, Erin Crist, Marco Leung, Kyle Voytovich, Samuel J Franklin, Andrei Rajkovic, Joshua Brenneman, Shireen A. Woodiga, Aimee McKinney

المصدر: Molecular Genetics and Metabolism. 132:S354-S356

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Computational biology, Biology, Molecular Biology, Biochemistry, Turnaround time, DNA sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f63fc8d4ff76da68446109ef89b85f47Test
https://doi.org/10.1016/s1096-7192Test(21)00623-5

المؤلفون: Huachun Zhong, Natalie Bir, Patrick J. Brennan, Carly Grubbs, Jesse Hunter, Betsy Schmalz, Amy Siemon, Harkness Kuck, Richard K. Wilson, Eric Bosley, Austin Antoniou, Erin Crist, Emily Sites, Shannon Garner, Kandamurugu Manickam, April Lehman, Rachel Gosselin, Bimal Chaudhari, Aimee Jalkanen, Peter White, Aimee McKinney, Jenni Carroll, Shireen A. Woodiga, Benjamin J. Kelly, Scott E. Hickey, Kristy Lee, Kyle Voytovich, Samantha Choi, Elaine R. Mardis, Cortland Martin, Catherine E. Cottrell, Vijayakumar Jayaraman, Mari Mori, Adam Herman, Marco Leung, Valentina Caceres, Don Corsmeier, Gregory L. Wheeler, Bianca Zapanta, David Gordon, Grant E. Lammi, Samuel J Franklin, Vincent Magrini, Andrei Rajkovic, Sarah Savage, Ingrid Chen, Matthew J. Schultz, Dennis Bartholomew, Matthew Pastore, Joshua Brenneman, Kim L. McBride, Kristen V. Truxal, Daniel C. Koboldt

المصدر: Molecular Genetics and Metabolism. 132:S165-S166

مصطلحات موضوعية: Genetics, Endocrinology, Endocrinology, Diabetes and Metabolism, Biology, Molecular Biology, Biochemistry, DNA sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0d12aa53962ff3b0369b80f9d18e3406Test
https://doi.org/10.1016/s1096-7192Test(21)00346-2

المؤلفون: Peter White, Vincent Magrini, Catherine E. Cottrell, Maggie Humphrey, Dennis Bartholomew, Danielle Mouhlas, Aimee McKinney, Valentina Caceres, Don Corsmeier, Shannon Garner, Vijayakumar Jayaraman, Thomas Grossman, Marilena Melas, Daniel C. Koboldt, Benjamin J. Kelly, Scott E. Hickey, Mari Mori, Theodora Matthews, Kristy Lee, Saranga Wijeratne, Mariam Mathew, Kandamurugu Manickam, Richard K. Wilson, Amy Wetzel, Kim L. McBride, Kristen V. Truxal, Sayaka Hashimoto, Ashita Dave-Wala

المصدر: Molecular Genetics and Metabolism. 132:S271-S272

مصطلحات موضوعية: Endocrinology, Series (mathematics), Computer science, Endocrinology, Diabetes and Metabolism, Genetics, Computational biology, Molecular Biology, Biochemistry, DNA sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::15e96bc543b0bfca525701f8e9efb63bTest
https://doi.org/10.1016/s1096-7192Test(21)00501-1

المؤلفون: Peter White, Kevin Bosse, Don Corsmeier, Gloria Zender, Sara Fitzgerald-Butt, Stephanie LaHaye, Kim L. McBride, Madhumita Basu, Vidu Garg, Jessica Bowman

المصدر: Circulation: Cardiovascular Genetics. 9:320-329

مصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, Heredity, DNA Mutational Analysis, Genome-wide association study, Bioinformatics, Heart Septal Defects, Atrial, Gene Frequency, Mutation Rate, Risk Factors, Databases, Genetic, Exome, Child, Ductus Arteriosus, Patent, Cells, Cultured, Genetics (clinical), Exome sequencing, Genetics, education.field_of_study, High-Throughput Nucleotide Sequencing, Pedigree, Phenotype, Child, Preschool, Tetralogy of Fallot, Female, Cardiology and Cardiovascular Medicine, Genetic Markers, Heart Defects, Congenital, Adolescent, Tolloid-Like Metalloproteinases, Population, Biology, Article, Atrial septal defects, 03 medical and health sciences, Humans, Computer Simulation, Genetic Predisposition to Disease, cardiovascular diseases, education, Allele frequency, Models, Genetic, Myosin Heavy Chains, Infant, GATA4 Transcription Factor, Minor allele frequency, 030104 developmental biology, Mutation, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26a8f0862740d71c7a0fab3771cfb399Test
https://doi.org/10.1161/circgenetics.115.001324Test

المؤلفون: Yui Nakano, Gail E. Herman, Benjamin J. Kelly, Emily Hansen-Kiss, Peter White, Atsuhiro Tsutiya, Yoshio Goshima, Don Corsmeier, Ritsuko Ohtani-Kaneko, Masugi Nishihara

المصدر: Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Autism Spectrum Disorder, Mutation, Missense, lcsh:Medicine, Muscle Proteins, Nerve Tissue Proteins, Biology, Hippocampal formation, Hippocampus, Article, 03 medical and health sciences, Gene Knockout Techniques, Mice, 0302 clinical medicine, Internal medicine, medicine, Missense mutation, Animals, Humans, lcsh:Science, Gene, Sexually dimorphic nucleus, Cells, Cultured, Genetic Association Studies, Regulation of gene expression, Genetics, Neurons, Sex Characteristics, Multidisciplinary, Sexual differentiation, lcsh:R, Sexual dimorphism, Disease Models, Animal, 030104 developmental biology, Endocrinology, Gene Expression Regulation, lcsh:Q, Female, 030217 neurology & neurosurgery, Sex characteristics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7525db633167fed6bc464e18a4309017Test
https://pubmed.ncbi.nlm.nih.gov/29196732Test

المؤلفون: Judith A. Goodship, Peter White, John W. Belmont, Kristine L. Bucasas, Kelsey Lecerf, Gloria Zender, William J. Dreyer, Lalita Wadhwa, Dhaval R. Parekh, Mojisola Popoola, Shoumo Bhattacharya, Dieter Furthner, M. Regina Lantin-Hermoso, Suzanne M. Leal, James R. Lupski, Xueqing Wang, Charles D. Fraser, Shaine A. Morris, Seema R. Lalani, Kim L. McBride, Gladys Zapata, Patricia P. Hernandez, Lisa C.A. D'Alessandro, Susan D. Fernbach, Elena C. Ocampo, Shanker Swaminathan, Henri Justino, Bernard Keavney, Nancy A. Ayres, Emily J. Lawrence, Vidu Garg, Jessica Bowman, Don Corsmeier, Jeffrey A. Towbin, Mark B. Lewin, Douglas Moodie, Sara Fitzgerald-Butt, Frances A. Bu'Lock, Mahshid S. Azamian, Hugh D. Allen, Daniel J. Penny, Alexia B. Santos, Neil A. Hanchard, Wayne J. Franklin, Susan W. Denfield, Aamir Jeewa, J. David Brook, Heather J. Cordell

المصدر: Human molecular genetics. 25(11)

مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Male, Genotype, Heart Ventricles, Chromosomes, Human, Pair 20, Locus (genetics), Genome-wide association study, Single-nucleotide polymorphism, 030204 cardiovascular system & hematology, Biology, Polymorphism, Single Nucleotide, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Genetics, SNP, Humans, Genetic Predisposition to Disease, Association mapping, Molecular Biology, Genetics (clinical), Association Studies Articles, Chromosome Mapping, General Medicine, Heritability, 030104 developmental biology, Female, Chromosome 20, Imputation (genetics), Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc81bcd3a3916b549bc2844fcb7f3631Test
https://pubmed.ncbi.nlm.nih.gov/26965164Test