المؤلفون: Madeline Q.R. Lopour, Lisa A. Schimmenti, Nicole J. Boczek, Hutton M. Kearney, Arlene V. Drack, Michael C. Brodsky

المصدر: American Journal of Ophthalmology Case Reports, Vol 29, Iss , Pp 101745- (2023)

مصطلحات موضوعية: Alstrom syndrome, Nystagmus, Uniparental disomy, Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2451993622004911Test; https://doaj.org/toc/2451-9936Test

الوصول الحر: https://doaj.org/article/b128732b228c4ff098da2573bce87b65Test

المؤلفون: Filippo Pinto Vairo, Nicole J. Boczek, Margot A. Cousin, Charu Kaiwar, Patrick R. Blackburn, Erin Conboy, Brendan C. Lanpher, Ralitza H. Gavrilova, Pavel N. Pichurin, Konstantinos N. Lazaridis, Dusica Babovic-Vuksanovic, Eric W. Klee

المصدر: Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 46-51 (2017)

مصطلحات موضوعية: Lysosomal storage disorders, Lysosomal disorders, Whole exome sequencing, Inborn errors of metabolism, Undiagnosed diseases, Rare diseases, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426917301209Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/d26ea23ea17a48b6a33115ca1f65c5e9Test

المؤلفون: Michael T. Zimmermann, Raul A. Urrutia, Patrick R. Blackburn, Margot A. Cousin, Nicole J. Boczek, Eric W. Klee, Colleen Macmurdo, Paldeep S. Atwal

المصدر: Case Reports in Genetics, Vol 2017 (2017)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2090-6544Test; https://doaj.org/toc/2090-6552Test

الوصول الحر: https://doaj.org/article/cb1a95c6c1b749a89383dc7dfaf49d3cTest

المؤلفون: Abhisek Swaika, Nicole J. Boczek, Neha Sood, Kimberly Guthrie, Eric W. Klee, Ankit Agrawal, Elliot L. Dimberg, Sikander Ailawadhi

المصدر: Case Reports in Genetics, Vol 2016 (2016)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2090-6544Test; https://doaj.org/toc/2090-6552Test

الوصول الحر: https://doaj.org/article/4e6fe1a1a8ed4093aa8cd50d70c18d18Test

المؤلفون: Jaime Lopes, Noemi Vidal‐Folch, Patrick Lundquist, Lisa A. Schimmenti, Nadir Demirel, Vicki Dean, Janelle Olson, Tom Auth, Malinda Butz, Katelyn Reed, Mark Wylam, Jessica Balcom, Nicole J. Boczek, Linda Hasadsri

المصدر: Pediatric Pulmonology. 58:819-824

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Pediatrics, Perinatology and Child Health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55e8e9c427e0f1e0804e959a7997b069Test
https://doi.org/10.1002/ppul.26259Test

المؤلفون: Nicole J. Boczek, Erica L. Macke, Jennifer Kemppainen, Eric W. Klee, Deborah L. Renaud, Ralitza H. Gavrilova

المصدر: Child Neurology Open, Vol 7 (2020)

مصطلحات موضوعية: Pediatrics, RJ1-570, Neurology. Diseases of the nervous system, RC346-429

العلاقة: https://doi.org/10.1177/2329048X20955003Test; https://doaj.org/toc/2329-048XTest; https://doaj.org/article/cb3a663b621648179dc84f85c6a6083dTest

الإتاحة: https://doi.org/10.1177/2329048X20955003Test
https://doaj.org/article/cb3a663b621648179dc84f85c6a6083dTest

المؤلفون: Wei Shen, Heidi L. Sellers, Lauren A. Choate, Mariam I. Stein, Pratyush P. Tandale, Jiayu Tan, Rohit Setlem, Yuta Sakai, Numrah Fadra, Carlos Sosa, Shawn P. McClelland, Sarah S. Barnett, Kristen J. Rasmussen, Cassandra K. Runke, Stephanie A. Smoley, Lori S. Tillmans, Cherisse A. Marcou, Ross A. Rowsey, Erik C. Thorland, Nicole J. Boczek, Hutton M. Kearney

المصدر: The Journal of Molecular Diagnostics.

مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d4701154a74f43b20056a60394394fe8Test
https://doi.org/10.1016Test/j.jmoldx.2023.04.001

المؤلفون: Gavin R. Oliver, Jennifer L. Kemppainen, Ashley N. Sigafoos, Konstantinos N. Lazaridis, Megan M. Hager, Teresa M. Kruisselbrink, Jessica Jackson, Jessica M. Tarnowski, Laura Rust, Nicole J. Boczek, Cherisse A. Marcou, Nicole L. Bertsch, Marissa S. Ellingson, Pavel N. Pichurin, Brendan C. Lanpher, Sarah K. Macklin-Mantia, Dusica Babovic-Vuksanovic, Gianrico Farrugia, Eva Morava-Kozicz, Aditi Gupta, Lauren Gunderson, Paldeep S. Atwal, Jolene M. Summer Bolster, Michael T. Zimmermann, Marine I. Murphree, A. Keith Stewart, Carrie A. Lahner, Tanya L. Schwab, Zhiyv Niu, Tammy M. McAllister, Matthew J. Ferber, Lindsay A. Mulvihill, Ralitza H. Gavrilova, Kristen J. Rasmussen, Laura Schultz-Rogers, Sarah A. Kroc, Carri A. Prochnow, Scott A. Beck, Joel A. Morales-Rosado, Garrett Jenkinson, Eric W. Klee, Filippo Vairo, Karl J. Clark, Stacy L. Aoudia, Katherine Agre, Rebecca J. Lowy, David R. Deyle, Alejandro Ferrer, Erica L. Macke, Lisa A. Schimmenti, Sarah S. Barnett, Laura J. Fisher, Margot A. Cousin, Rory J. Olson, Radhika Dhamija, Linda Hasadsri, Patrick R. Blackburn, Raul Urrutia, Charu Kaiwar, Klaas J. Wierenga

المصدر: Genetics in Medicine. 25:100359

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Multivariate analysis, business.industry, Translational research, Genomics, Disease, 030105 genetics & heredity, Omics, Undiagnosed Diseases, Translational Research, Biomedical, 03 medical and health sciences, 030104 developmental biology, Phenotype, Exome Sequencing, Medicine, Humans, Exome, Personalized medicine, Genetic Testing, business, Exome sequencing, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed701e7ad61196d0260a02ac5deae04aTest
https://doi.org/10.1016Test/j.gim.2022.12.006

المؤلفون: Mayher J. Patel, Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Kiyomitsu Nara, Margaret Kenna, Hela Azaiez, Kevin T. Booth, Karen B. Avraham, Hannie Kremer, Andrew J. Griffith, Heidi L. Rehm, Sami S. Amr, Ahmad N. Abou Tayoun, Sonia Abdelhak, John Alexander, Zippora Brownstein, Rachel Burt, Byung Yoon Choi, Lilian Downie, Thomas Friedman, Anne Giersch, John Greinwald, Jeffrey Holt, Makoto Hosoya, Un-Kyung Kim, Ian Krantz, Suzanne Leal, Saber Masmoudi, Tatsuo Matsunaga, Matías Morín, Cynthia Morton, Hideki Mutai, Arti Pandya, Richard Smith, Mustafa Tekin, Shin-Ichi Usami, Guy Van Camp, Kazuki Yamazawa, Hui-Jun Yuan, Elizabeth Black-Zeigelbein, Kejian Zhang

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine, 23, 2208-2212
Genetics in Medicine, 23, 11, pp. 2208-2212

مصطلحات موضوعية: Disease specific, medicine.medical_specialty, Hearing loss, Molecular pathology, business.industry, Genome, Human, Genetic Variation, Computational biology, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Human genetics, Article, medicine, Medical genetics, Humans, Genetic Testing, medicine.symptom, business, Hearing Loss, Uncertain significance, Genetics (clinical), Likely pathogenic, Sequence (medicine)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd1530263aad3e32e045d590785c198eTest
https://hdl.handle.net/2066/243959Test

المؤلفون: Hutton M. Kearney, Beth A. Pitel, Nicole L. Hoppman, Erik C. Thorland, Clinton E. Hagen, Linda B. Baughn, Nicole J. Boczek, Cherisse A. Marcou, Ross A. Rowsey

المصدر: Genetics in Medicine. 22:2120-2124

مصطلحات موضوعية: 0301 basic medicine, Microarray, business.industry, 030105 genetics & heredity, Bioinformatics, 03 medical and health sciences, 030104 developmental biology, Gene duplication, Retrospective analysis, RefSeq, Medicine, Clinical significance, Copy-number variation, business, Uncertain significance, Exome, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::965fe0aa495a9fad7749871a1ff0f00aTest
https://doi.org/10.1038/s41436-020-0932-0Test