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Jacob Durtschi

Showing results (11-20 of 13) with videos related to

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American Journal of Human Genetics|April 8, 2014
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear familiesMarc V Singleton, Stephen L Guthery, Karl V Voelkerding, et al.
American Journal of Medical Genetics. Part A|November 22, 2013
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overloadKathryn J Swoboda, Rebecca L Margraf, John C Carey, et al.
NPJ Genomic Medicine|March 23, 2025
The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unitSabrina Malone Jenkins, Rachel N Palmquist, Barry Moore, et al.
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Showing results (11-20 of 13) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 13 results.
American Journal of Human Genetics|April 8, 2014
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear familiesMarc V Singleton, Stephen L Guthery, Karl V Voelkerding, et al.
American Journal of Medical Genetics. Part A|November 22, 2013
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overloadKathryn J Swoboda, Rebecca L Margraf, John C Carey, et al.
NPJ Genomic Medicine|March 23, 2025
The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unitSabrina Malone Jenkins, Rachel N Palmquist, Barry Moore, et al.
Pageof 2