Search Results - "Walano, Nicolette"

Feasibility of Utilizing PREMM Score for Lynch Syndrome Identification in an Urban, Minority Patient Population by Adviento, Brigid, Conner, Michael, Sarkisian, Alexander, Walano, Nicolette, Andersson, Hans, Karlitz, Jordan

“…The PREMM5 model is a web-based clinical prediction algorithm that estimates the gene-specific risk of an individual carrying a Lynch syndrome germline…”
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Genotype–phenotype correlation in IARS2‐related diseases: A case report and review of literature by Upadia, Jariya, Li, Yuwen, Walano, Nicolette, Deputy, Stephen, Gajewski, Kelly, Andersson, Hans C.

“…Isoleucyl‐tRNA synthetase 2 (IARS2) encodes mitochondrial isoleucine‐tRNA synthetase. Pathogenic variants in the IARS2 gene are associated with mitochondrial…”
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HSD10 disease in a female: A case report and review of literature by Upadia, Jariya, Walano, Nicolette, Noh, Grace S., Liu, Jiao, Li, Yuwen, Deputy, Stephen, Elliott, Lindsay T., Wong, Joaquin, Lee, Jennifer A., Caylor, Raymond C., Andersson, Hans C.

“…HSD10 disease is a rare X‐linked mitochondrial disorder caused by pathogenic variants in the HSD17B10 gene. The phenotype results from impaired…”
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Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior by Pan, Lisa A, Martin, Petra, Zimmer, Thomas, Segreti, Anna Maria, Kassiff, Sivan, McKain, Brian W, Baca, Cynthia A, Rengasamy, Manivel, Hyland, Keith, Walano, Nicolette, Steinfeld, Robert, Hughes, Marion, Dobrowolski, Steven K, Pasquino, Michele, Diler, Rasim, Perel, James, Finegold, David N, Peters, David G, Naviaux, Robert K, Brent, David A, Vockley, Jerry

“…Objective:Treatment-refractory depression is a devastating condition with significant morbidity, mortality, and societal cost. At least 15% of cases of major…”
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HSD10 disease in a female: A case report and review of literature by Upadia, Jariya, Walano, Nicolette, Noh, Grace S, Liu, Jiao, Li, Yuwen, Deputy, Stephen, Elliott, Lindsay T, Wong, Joaquin, Lee, Jennifer A, Caylor, Raymond C, Andersson, Hans C

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