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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat. 2022 Mar;43(3):403-419. doi: 10.1002/humu.24326. Epub 2022 Jan 12.
Hum Mutat. 2022.
PMID: 34989426
Free PMC article.
Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature.
Upadia J, Li Y, Walano N, Deputy S, Gajewski K, Andersson HC.
Upadia J, et al. Among authors: walano n.
Clin Case Rep. 2022 Feb 24;10(2):e05401. doi: 10.1002/ccr3.5401. eCollection 2022 Feb.
Clin Case Rep. 2022.
PMID: 35228874
Free PMC article.
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HSD10 disease in a female: A case report and review of literature.
Upadia J, Walano N, Noh GS, Liu J, Li Y, Deputy S, Elliott LT, Wong J, Lee JA, Caylor RC, Andersson HC.
Upadia J, et al. Among authors: walano n.
JIMD Rep. 2021 Sep 15;62(1):35-43. doi: 10.1002/jmd2.12250. eCollection 2021 Nov.
JIMD Rep. 2021.
PMID: 34765396
Free PMC article.
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Feasibility of Utilizing PREMM Score for Lynch Syndrome Identification in an Urban, Minority Patient Population.
Adviento B, Conner M, Sarkisian A, Walano N, Andersson H, Karlitz J.
Adviento B, et al. Among authors: walano n.
J Prim Care Community Health. 2021 Jan-Dec;12:21501327211020973. doi: 10.1177/21501327211020973.
J Prim Care Community Health. 2021.
PMID: 34053368
Free PMC article.
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Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior.
Pan LA, Martin P, Zimmer T, Segreti AM, Kassiff S, McKain BW, Baca CA, Rengasamy M, Hyland K, Walano N, Steinfeld R, Hughes M, Dobrowolski SK, Pasquino M, Diler R, Perel J, Finegold DN, Peters DG, Naviaux RK, Brent DA, Vockley J.
Pan LA, et al. Among authors: walano n.
Am J Psychiatry. 2017 Jan 1;174(1):42-50. doi: 10.1176/appi.ajp.2016.15111500. Epub 2016 Aug 13.
Am J Psychiatry. 2017.
PMID: 27523499
Free PMC article.
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