Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Andy Drackley"'
Autor:
Elizabeth S. Tranel, Bridget McGowan, Andy Drackley, Leon G. Epstein, Vamshi K. Rao, Nancy L. Kuntz, Abigail N. Schwaede
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101051- (2024)
Riboflavin transporter deficiency (RTD) is a neurodegenerative disorder that presents from infancy to adulthood with a progressive axonal neuropathy characterized by a variety of neurologic symptoms including hearing loss, weakness, bulbar palsy, and
Externí odkaz:
https://doaj.org/article/4cccb573eb0f42d98c9d2240d7d790df
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101610- (2024)
Externí odkaz:
https://doaj.org/article/c05717b7ec8a4af28a251ba146f18470
Autor:
Andy Drackley, Pamela Rathbun, Alexander Ing, Alissa Wlodaver, Joshua Baker, Rachel Hickey, Merlene Peter, Anne McRae, Sarah Jurgensmeyer, Kai Lee Yap, Carlos Prada
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100501- (2023)
Externí odkaz:
https://doaj.org/article/25af213083c549efa6b4c8b41320e43f
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100536- (2023)
Externí odkaz:
https://doaj.org/article/bcc1e2668ff349c98da146e2976bf825
Autor:
Kai Lee Yap, Anthony Wong, Sachleen Tuteja, Andrew Skol, Andy Drackley, Alexander Ing, Eleanor Hilton, Michael Carroll, Christopher McCabe, Sabah Kadri, Pamela Rathbun, Katrin Leuer, Joel Charrow
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100638- (2023)
Externí odkaz:
https://doaj.org/article/a87bd78889bb459db14be70c729cb299
Autor:
Andy Drackley, Casey Brew, Alissa Wlodaver, Sara Spencer, Katrin Leuer, Pamela Rathbun, Joel Charrow, Xuwen Wieneke, Kai Lee Yap, Alexander Ing
Publikováno v:
The Journal of Molecular Diagnostics. 24:1100-1111
In 2019, the American College of Medical Genetics and Genomics and the Clinical Genome Resource published updated technical standards for the interpretation and reporting of copy number variants (CNVs), introducing a semiquantitative classification s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a14fc54314382177eb42821f5e35a89b
https://doi.org/10.1016/j.jmoldx.2022.06.005
https://doi.org/10.1016/j.jmoldx.2022.06.005
Autor:
Jennifer L. Rossen, Brenda L. Bohnsack, Kevin X. Zhang, Alexander Ing, Andy Drackley, Valerie Castelluccio, Hanta Ralay-Ranaivo
Publikováno v:
Genes
Volume 14
Issue 3
Pages: 608
Volume 14
Issue 3
Pages: 608
The aim of this study was to evaluate the diagnostic yield from prior genetic testing in a 20-year cohort of pediatric patients with congenital cataracts. A retrospective review of patients with congenital cataracts who underwent genetic testing was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12f6025fbb1e74b080d790058e581d1b
https://doi.org/10.3390/genes14030608
https://doi.org/10.3390/genes14030608
Autor:
Kyle S. Chan, Brenda L. Bohnsack, Alexander Ing, Andy Drackley, Valerie Castelluccio, Kevin X. Zhang, Hanta Ralay-Ranaivo, Jennifer L. Rossen
Publikováno v:
Genes; Volume 14; Issue 1; Pages: 135
The diagnostic yield of genetic testing for ocular/oculocutaneous albinism (OA/OCA) in a diverse pediatric population in the United States (U.S.) is unclear. Phenotypes of 53 patients who presented between 2006–2022 with OA/OCA were retrospectively
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17395c4aedbf9998c3e6faedf07b8450
https://doi.org/10.3390/genes14010135
https://doi.org/10.3390/genes14010135
Autor:
Andy Drackley, Casey Brew, Alissa Wlodaver, Sara Spencer, Katrin Carlson Leuer, Pamela Rathbun, Xuwen Wieneke, Kai Lee Yap, Alexander Ing
Publikováno v:
Genetics in Medicine. 24:S362
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::404c6cf8c9a893879b04fc9bfc473e0e
https://doi.org/10.1016/j.gim.2022.01.582
https://doi.org/10.1016/j.gim.2022.01.582