-
1دورية أكاديمية
المؤلفون: Dan Brooks, Roni Zemet Lazar, Sandra Darilek, Grant Bonesteele, Veena Mathur, Ignatia Van Den Veyver, April Adams
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100661- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423006611Test; https://doaj.org/toc/2949-7744Test
-
2دورية أكاديمية
المصدر: Journal of Clinical Medicine, Vol 3, Iss 3, Pp 1018-1032 (2014)
مصطلحات موضوعية: prenatal, genetic testing, incidental findings, variants of uncertain significance, genetic counseling, Medicine
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Sarah Mayes, Syed Hashmi, Mark A. Turrentine, Sandra Darilek, Lara A. Friel, Jennifer Czerwinski
المصدر: American Journal of Perinatology Reports, Vol 06, Iss 01, Pp e18-e24 (2016)
مصطلحات موضوعية: noninvasive prenatal testing, microdeletion, prenatal screen, Gynecology and obstetrics, RG1-991
وصف الملف: electronic resource
-
4
المؤلفون: Jeffrey S. Dungan, Susan Klugman, Sandra Darilek, Jennifer Malinowski, Yassmine M.N. Akkari, Kristin G. Monaghan, Angelika Erwin, Robert G. Best
المصدر: Genetics in Medicine. 25:100336
مصطلحات موضوعية: Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::57ada27f72d2f36c52fd45c7b5b27201Test
https://doi.org/10.1016/j.gim.2022.11.004Test -
5
المؤلفون: Alper Gezdirici, Christine M. Eng, Shan Chen, John W. Belmont, Elif Yilmaz Gulec, James R. Lupski, Yi-Chien Lee, Mohammad K. Eldomery, Rui Xiao, Magalie S. Leduc, Donna M. Muzny, Jennifer E. Posey, Fernando Scaglia, Zeynep Coban Akdemir, Jill A. Rosenfeld, Xia Wang, Francesco Vetrini, Michael M. Khayat, Richard A. Gibbs, Magdalena Walkiewicz, LaDonna Immken, Lionel Van Maldergem, Paolo Moretti, Theresa Mihalic Mosher, Yaping Yang, Anne Slavotinek, Brendan Lee, Jill M. Harris, Fan Xia, Weimin He, Adam W. Hansen, Pengfei Liu, Carlos A. Bacino, Yunru Shao, Yunyun Jiang, Davut Pehlivan, Neil A. Hanchard, Juliette Piard, Jing Zhang, Sandra Darilek, Brett H. Graham, Weimin Bi, Adekunle M. Adesina, Scott E. Hickey, Joke Beuten
المصدر: Annals of Clinical and Translational Neurology. 5:1277-1285
مصطلحات موضوعية: 0301 basic medicine, Mitochondrial DNA, Fetus, Heart disease, business.industry, General Neuroscience, Dna variants, medicine.disease, Bioinformatics, Phenotype, 3. Good health, 03 medical and health sciences, 030104 developmental biology, Intellectual disability, medicine, Neurology (clinical), Neurologic decline, DDX3X, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0d8f587112d02bea90e61faf82a13522Test
https://doi.org/10.1002/acn3.622Test -
6
المؤلفون: Salma Nassef, Chris M. Holder, Sarah Huguenard, Sandra Darilek, Kim C. Worley, Amy M. Wallis, Chad A. Shaw, Seema R. Lalani, Brendan Lee, Pilar L. Magoulas, Daniel L. Riconda
مصطلحات موضوعية: Telemedicine, medicine.medical_specialty, Service (systems architecture), Knowledge management, medicine.diagnostic_test, business.industry, Computer science, Genetic counseling, Precision medicine, Health care, medicine, Web application, Medical genetics, business, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cea8b7c036e9709b54915a4520ddec9eTest
https://doi.org/10.1101/2021.01.20.21249267Test -
7
المؤلفون: Ruth K. Abramson, Jeffrey Addison, Adnan Alsadah, Ashok Balasubramanyam, Mir Reza Bekheirnia, Nasim Bekheirnia, John Christopher Berens, Katie Lee Bergstrom, Thomas D. Bird, Maria Blazo, Nicola Brunetti-Pierri, Lindsay Burrage, Sandra Darilek, Shweta U. Dhar, Harry C. Dietz, Tanya N. Eble, Edward D. Esplin, David Flannery, J. Scott Gabrielsen, Jaya Ganesh, Aixa Gonzalez Garcia, Monica Giovanni, Kevin E. Glinton, Christi J. Guerrini, Trevor D. Hadley, Jessica Hause, Lauren E. Hipp, Fuki M. Hisama, Sarah Huguenard, Krystal M. Jones, Dolores J. Lamb, Gabriel Lazaro-Munoz, Brendan Lee, Moise L. Levy, Gretchen MacCarrick, Ronit Marom, Amy L. McGuire, Luisa Mestroni, Avni Mody, David R. Murdock, Michael F. Murray, Sandesh C.S. Nagamani, Cynthia Peacock, Jennifer E. Posey, Huma Rana, Jill A. Rosenfeld, Susan L. Samson, Fernando Scaglia, Aeron M. Small, Matthew R.G. Taylor, Megan E. Tucker, Wendy R. Uhlmann, Ignatia B. Van den Veyver, Jaime Vengoechea, Jennifer Weiss, Dina Winograd, Wojciech Wiszniewski, Sarvari Yellapragada, Anna Zakas, Lilei Zhang
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ffc6e3ac620bcc39030b205dbdb0e88dTest
https://doi.org/10.1016/b978-0-12-817344-2.00034-4Test -
8
المؤلفون: Sarah Huguenard, Sandra Darilek, Ignatia B. Van den Veyver
مصطلحات موضوعية: Pregnancy, medicine.medical_specialty, In vitro fertilisation, medicine.diagnostic_test, Offspring, business.industry, Obstetrics, medicine.medical_treatment, media_common.quotation_subject, Prenatal care, medicine.disease, medicine, Family history, Reproduction, business, Genetic screen, media_common, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dcb0e8cc981a0d09ec586d8ae8583b03Test
https://doi.org/10.1016/b978-0-12-817344-2.00007-1Test -
9
المؤلفون: Josh Skorupski, Craig A. Witz, Sandra Darilek, Jason Grifffith
المصدر: Fertility and Sterility. 116:e378
مصطلحات موضوعية: Reproductive Medicine, medicine.diagnostic_test, business.industry, Chromosome abnormality, medicine, Obstetrics and Gynecology, Aneuploidy, medicine.disease, business, Bioinformatics, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::90158d65c684e55deb29fa03affd4061Test
https://doi.org/10.1016/j.fertnstert.2021.07.1017Test -
10
المؤلفون: Sandra Darilek, Victoria Mok Siu, Carrie A. Mohila, Patrick Shannon, Ebba Alkhunaizi, Anne-Marie Laberge, Catherine Fallet-Bianco, Julianne Zandberg, Marie Injeyan, David Chitayat, Benjamin Ellezam, Shirley Shuster, Sarah Boissel, Lili-Naz Hazrati, Fadi F. Hamdan
المصدر: Paediatrics Publications
مصطلحات موضوعية: Adult, Male, Heterozygote, Pathology, medicine.medical_specialty, Biopsy, Compound heterozygosity, Pediatrics, Young Adult, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Myopathy, Genetic Association Studies, Genetics (clinical), Minicore myopathy, Retrospective Studies, Ultrasonography, RYR1, business.industry, Homozygote, Malignant hyperthermia, Genetic Variation, Ryanodine Receptor Calcium Release Channel, medicine.disease, Immunohistochemistry, Lethal Multiple Pterygium Syndrome, Pedigree, Phenotype, Neonatal hypotonia, arthrogryposis multiplex congenita, fetal akinesia deformation sequence syndrome, lethal multiple pterygium syndrome, malignant hyperthermia, Female, medicine.symptom, business, Central core disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad4d7ba40c155ec37ad4f901b4869123Test
https://ir.lib.uwo.ca/paedpub/386Test