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32 results

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Page 1
Reanalysis of Clinical Exome Sequencing Data.
Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. Liu P, et al. Among authors: kleppe s. N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033. N Engl J Med. 2019. PMID: 31216405 Free PMC article. No abstract available.
The Swedish Cervical Screening Cohort.
Dillner J, Mühr LSA, Kleppe SN, Wang J, Andersson H, Elfström M, Merino R, Sundström K. Dillner J, et al. Among authors: kleppe sn. Sci Data. 2024 Jun 26;11(1):697. doi: 10.1038/s41597-024-03519-2. Sci Data. 2024. PMID: 38926412 Free PMC article.
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.
Chong SC, Cao Y, Fung ELW, Kleppe S, Gripp KW, Hertecant J, El-Hattab AW, Suleiman J, Clark G, von Allmen G, Rodziyevska O, Lewis RA, Rosenfeld JA, Dong J; Undiagnosed Diseases Network; Wang X, Miller MJ, Bi W, Liu P, Scaglia F. Chong SC, et al. Among authors: kleppe s. Am J Med Genet A. 2023 Mar;191(3):776-785. doi: 10.1002/ajmg.a.63074. Epub 2022 Dec 19. Am J Med Genet A. 2023. PMID: 36537114
Initial management of acute hyperammonemia in pediatrics.
Eiroa H, Durand C, Szlago M, Pereyra M, Nuñez M, Guelbert N, Pacheco G, Kleppe S. Eiroa H, et al. Among authors: kleppe s. Arch Argent Pediatr. 2023 Jun 1;121(3):e202202614. doi: 10.5546/aap.2022-02614.eng. Epub 2022 Oct 27. Arch Argent Pediatr. 2023. PMID: 36287611 Free article. English, Spanish.
Urea Cycle Disorders.
Kleppe S, Mian A, Lee B. Kleppe S, et al. Curr Treat Options Neurol. 2003 Jul;5(4):309-319. doi: 10.1007/s11940-003-0037-5. Curr Treat Options Neurol. 2003. PMID: 12791198
Identification of copy-number variants in patients with overgrowth disorders.
Parra A, Tenorio-Castano J, Nevado J, Cazalla M, Miranda-Alcaraz L, Gallego-Zazo N, Silván C, Arias P, Pozo-Román J, Ballesta-Martínez MJ, Guillén-Navarro E, Arroyo I, Lotersztein V, Cosentino V, González-Meneses A, Galán E, Rosell J, Ramos F; Spanish OverGrowth Registry Initiative; Lapunzina P. Parra A, et al. Clin Genet. 2024 Nov;106(5):614-624. doi: 10.1111/cge.14596. Epub 2024 Aug 1. Clin Genet. 2024. PMID: 39091142
32 results