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Year Number of Results
1964 1
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2018 5
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45 results

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Page 1
The Significance of Hematuria in Podocytopathies.
Marchel D, Trachtman H, Larkina M, Helmuth M, Lai Yee JY, Fermin D, Bomback AS, Canetta PA, Gipson DS, Mottl AK, Parekh RS, Saha MK, Sampson MG, Lafayette RA, Mariani LH; Nephrotic Syndrome Study Network (NEPTUNE) and Cure Glomerulonephropathy (CureGN). Marchel D, et al. Clin J Am Soc Nephrol. 2024 Jan 1;19(1):56-66. doi: 10.2215/CJN.0000000000000309. Epub 2023 Sep 21. Clin J Am Soc Nephrol. 2024. PMID: 37733352 Free PMC article.
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Picketts D, Mirzaa G, Yan K, Relator R, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan K, Sacoto MG, Dobyns W, Park K, Fernández-Mayoralas D, Fernández-Jaén A, Jayakar P, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, Sterbova K, Smal N, Weckhuysen S, Oegema R, Innes M, Latsko M, Ben-Omran T, Yeh R, Kruer M, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci S, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald K, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B. Picketts D, et al. Among authors: pao e. Res Sq [Preprint]. 2023 Sep 29:rs.3.rs-3317938. doi: 10.21203/rs.3.rs-3317938/v1. Res Sq. 2023. PMID: 37841849 Free PMC article. Preprint.
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Engel C, Rendek M, Assoumani J, Argilli E, Ariani F, Avice-Denizet AL, Bijlsmaa EK, Blanc P, Bruno LP, Callewaert B, Capra V, Carullo M, Chesneau B, Coppens S, Curry C, Dale B, Dahlen E, Delahaye-Duriez A, Denommé-Pichon AS, Demeer B, Dvořáková L, Fischer J, Geneviève D, Giacomini T, Handrup MM, Heron D, Hüning I, Iacomino M, Isidor B, Keren B, Kmoch S, Koolen DA, Kübler A, Laštůvková J, Le C, Levy J, Rizzo CL, Maitz S, Marlin S, Mignot C, Mirzaa G, Nagel I, Neuens S, Nosková L, Pao E, Pecková A, Plaisancie J, Porrmann J, Privitera F, Reis A, Renieri A, Rio M, Rippert A, Ryba L, Scala M, Schieving JH, Sherr EH, Shuen A, Sidlow R, Smol T, Soblet J, Striano P, Suri M, Syryn H, Tran Mau-Them F, Travessa AM, Van Gils J, Vasileiou G, Verseput JJA, Vilain C, Vincent-Delorme C, Vyhnálková E, Wakeling EL, Zacher P, Zara F, Kuentz P, Piard J. Engel C, et al. Among authors: pao e. Eur J Hum Genet. 2025 Aug;33(8):989-996. doi: 10.1038/s41431-025-01884-z. Epub 2025 Jun 25. Eur J Hum Genet. 2025. PMID: 40562808
Cellular behavior analysis from live-cell imaging of TCR T cell-cancer cell interactions.
Verma A, Yu C, Bachl S, Lopez I, Schwartz M, Moen E, Kale N, Ching C, Miller G, Dougherty T, Pao E, Graf W, Ward C, Jena S, Marson A, Carnevale J, Van Valen D, Engelhardt BE. Verma A, et al. Among authors: pao e. bioRxiv [Preprint]. 2024 Nov 21:2024.11.19.624390. doi: 10.1101/2024.11.19.624390. bioRxiv. 2024. PMID: 39605616 Free PMC article. Preprint.
Pediatric contributions and lessons learned from the NEPTUNE cohort study.
Modi ZJ, Zhai Y, Yee J, Desmond H, Hao W, Sampson MG, Sethna CB, Wang CS, Gipson DS, Trachtman H, Kretzler M; NEPTUNE investigators. Modi ZJ, et al. Pediatr Nephrol. 2024 Sep;39(9):2555-2568. doi: 10.1007/s00467-023-06256-7. Epub 2024 Jan 18. Pediatr Nephrol. 2024. PMID: 38233720 Review.
Rationale and design of the Nephrotic Syndrome Study Network (NEPTUNE) Match in glomerular diseases: designing the right trial for the right patient, today.
Trachtman H, Desmond H, Williams AL, Mariani LH, Eddy S, Ju W, Barisoni L, Ascani HK, Uhlmann WR, Spino C, Holzman LB, Sedor JR, Gadegbeku C, Subramanian L, Lienczewski CC, Manieri T, Roberts SJ, Gipson DS, Kretzler M; NEPTUNE investigators. Trachtman H, et al. Kidney Int. 2024 Feb;105(2):218-230. doi: 10.1016/j.kint.2023.11.018. Kidney Int. 2024. PMID: 38245210 Free PMC article.
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.
Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, Sherr EH, Hashem MO, Maddirevula S, Alkuraya FS, Contractar IAF, Neil JE, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM. Thomas AX, et al. Among authors: pao ec. Ann Clin Transl Neurol. 2022 Aug;9(8):1276-1288. doi: 10.1002/acn3.51629. Epub 2022 Jul 24. Ann Clin Transl Neurol. 2022. PMID: 35871307 Free PMC article.
45 results