-
1دورية أكاديمية
المؤلفون: Tara Wenger, Alexandra Keefe, Lukas Kruidenier, Megan Sikes, Abbey Scott, Joon-Ho Yu, Kate MacDuffie, Kailyn Anderson, Olivia Sommers, Heidi Gildersleeve, Kati Buckingham, Jessica Chong, Katrina Dipple, David Veenstra, Dan Doherty, Daniel Miller, Deborah Copenheaver, Jane Juusola, Amy Snook, Chayna Davis, Kirsty McWalter, Paul Kruszka, Michael Bamshad
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101091- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424002371Test; https://doaj.org/toc/2949-7744Test
-
2دورية أكاديمية
المؤلفون: Katrina Dipple, Daniel Doherty, Kailyn Anderson, Olivia Sommers, Tara Wenger, Kate MacDuffie, Alexandra Keefe, Abbey Scott, Lukas Kruidenier, Jamie Love-Nichols, Heidi Gildersleeve, Chayna Davis, Kati Buckingham, Jessica Chong, David Veenstra, Danny Miller, Deborah Copenheaver, Jane Juusola, Kyle Retterer, Kirsty McWalter, Paul Kruszka, Joon-Ho Yu, Michael Bamshad
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101111- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424002577Test; https://doaj.org/toc/2949-7744Test
-
3دورية أكاديمية
المؤلفون: Alexandra Keefe, Tara Wenger, Joon-Ho Yu, Megan Sikes, Luke Kruidenier, Abbey Scott, Kate McDuffie, Olivia Sommers, Heidi Gildersleeve, Chayna Davis, Paul Kruszka, Kati Buckingham, Jessica Chong, David Veenstra, Kyle Retterer, Kirsty McWalter, Amy Snook, Jane Juusola, Deborah Copenheaver, Danny Miller, Katrina Dipple, Kyle Brothers, Michael Bamshad
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100236- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423002364Test; https://doaj.org/toc/2949-7744Test
-
4دورية أكاديمية
المؤلفون: Tara Wenger, Alexandra Keefe, Megan Sikes, Luke Kruidenier, Joon-Ho Yu, Kate McDuffie, Olivia Sommers, Heidi Gildersleeve, Abbey Scott, Chayna Davis, Paul Kruszka, Kati Buckingham, Jessica Chong, Kyle Retterer, Kirsty McWalter, Amy Snook, Jane Juusola, Deborah Copenheaver, David Veenstra, Danny Miller, Katrina Dipple, Michael Bamshad
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100450- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423004508Test; https://doaj.org/toc/2949-7744Test
-
5
المؤلفون: Alyssa Ritter, Christopher Gray, Ian D. Krantz, Sandra Yang, Livija Medne, Avni Santani, Cara M. Skraban, Kosuke Izumi, Deborah Copenheaver, Jane Juusola, Rebecca C. Ahrens-Nicklas, Emma Bedoukian, Kimberly Y. Lin, Jacqueline Leonard, Justin H Berger
المصدر: Genet Med
مصطلحات موضوعية: Cardiomyopathy, Dilated, Male, Pediatrics, medicine.medical_specialty, Cardiomyopathy, Article, Intensive care, Exome Sequencing, medicine, Humans, Exome, Genetic Testing, Medical diagnosis, Genetics (clinical), Exome sequencing, Genetic testing, Heart Failure, medicine.diagnostic_test, business.industry, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, Dilated cardiomyopathy, medicine.disease, Treatment Outcome, Heart failure, Female, Differential diagnosis, Cardiomyopathies, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a6368555643c1de9a33238b41444f63Test
https://doi.org/10.1038/s41436-019-0654-3Test -
6
المؤلفون: Tara Wenger, Abbey Scott, Megan Sikes, Chayna Davis, Kati Buckingham, Jessica Chong, Kyle Retterer, Jane Juusola, Deborah Copenheaver, Paul Kruszka, Katrina Dipple, Michael Bamshad
المصدر: Genetics in Medicine. 24:S178
مصطلحات موضوعية: Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a65ffecde39bed22cb00742648d868ffTest
https://doi.org/10.1016/j.gim.2022.01.316Test -
7
المؤلفون: Gabriele Richard, Bethany Friedman, Carin Yates, Julie Scuffins, Cathlin R Kucera, Kristin G. Monaghan, Kyle Retterer, Deborah Copenheaver, Jane Juusola
المصدر: Genetics in Medicine. 19:1171-1178
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Candidate gene, Pathology, Prenatal diagnosis, Disease, 030105 genetics & heredity, Ultrasonography, Prenatal, Fetal Development, 03 medical and health sciences, Fetus, Pregnancy, Prenatal Diagnosis, Exome Sequencing, medicine, Humans, Exome, Fetal Death, Genetics (clinical), Exome sequencing, Ultrasonography, Obstetrics, business.industry, Abortion, Induced, Sequence Analysis, DNA, medicine.disease, Phenotype, Mutation, Etiology, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48f3826f8ff8dff30c83837e07bd0229Test
https://doi.org/10.1038/gim.2017.31Test -
8
المؤلفون: Alan H. Beggs, Grace E. VanNoy, Timothy W. Yu, Casie A. Genetti, Jane Juusola, Jill A. Madden, Cynthia S. Gubbels, Sandra Yang, Monica H. Wojcik, Joan M. Stoler, Olaf Bodamer, Pankaj B. Agrawal, Richard B. Parad, Sergei Roumiantsev, Nina B. Gold, Deborah Copenheaver
المصدر: Genet Med
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Palliative care, Critical Illness, Article, law.invention, law, Exome Sequencing, medicine, Humans, Exome, Genetic Testing, Prospective Studies, Medical diagnosis, Genetics (clinical), Selection (genetic algorithm), Exome sequencing, Aged, Critically ill, business.industry, Infant, Newborn, Infant, Phenotype, Intensive care unit, Hypotonia, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e47dd1d9cb05e65f673d25596e04962Test
https://pubmed.ncbi.nlm.nih.gov/31780822Test