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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 9
2003 7
2004 8
2005 4
2006 8
2007 8
2008 4
2009 6
2010 8
2011 7
2012 6
2013 12
2014 11
2015 20
2016 5
2017 5
2018 10
2019 11
2020 18
2021 12
2022 5
2023 7
2024 4

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165 results

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Page 1
Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Zielonka M, et al. Ann Clin Transl Neurol. 2019 Sep;6(9):1858-1871. doi: 10.1002/acn3.50886. Epub 2019 Aug 30. Ann Clin Transl Neurol. 2019. PMID: 31469252 Free PMC article.
Arginase-1 deficiency.
Sin YY, Baron G, Schulze A, Funk CD. Sin YY, et al. Among authors: schulze a. J Mol Med (Berl). 2015 Dec;93(12):1287-96. doi: 10.1007/s00109-015-1354-3. Epub 2015 Oct 14. J Mol Med (Berl). 2015. PMID: 26467175 Review.
Potent broadly neutralizing antibody VIR-3434 controls hepatitis B and D virus infection and reduces HBsAg in humanized mice.
Lempp FA, Volz T, Cameroni E, Benigni F, Zhou J, Rosen LE, Noack J, Zatta F, Kaiser H, Bianchi S, Lombardo G, Jaconi S, Vincenzetti L, Imam H, Soriaga LB, Passini N, Belnap DM, Schulze A, Lütgehetmann M, Telenti A, Cathcart AL, Snell G, Purcell LA, Hebner CM, Urban S, Dandri M, Corti D, Schmid MA. Lempp FA, et al. Among authors: schulze a. J Hepatol. 2023 Nov;79(5):1129-1138. doi: 10.1016/j.jhep.2023.07.003. Epub 2023 Jul 17. J Hepatol. 2023. PMID: 37459920 Free article.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Lionel AC, et al. Among authors: schulze a. Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771251 Free PMC article.
Creatine deficiency syndromes.
Schulze A. Schulze A. Handb Clin Neurol. 2013;113:1837-43. doi: 10.1016/B978-0-444-59565-2.00053-8. Handb Clin Neurol. 2013. PMID: 23622406 Review.
Surrogate based continuous noninvasive blood pressure measurement.
Pielmus AG, Mühlstef J, Bresch E, Glos M, Jungen C, Mieke S, Orglmeister R, Schulze A, Stender B, Voigt V, Zaunseder S. Pielmus AG, et al. Among authors: schulze a. Biomed Tech (Berl). 2021 Feb 10;66(3):231-245. doi: 10.1515/bmt-2020-0209. Print 2021 Jun 25. Biomed Tech (Berl). 2021. PMID: 33565285 Review.
Creatine deficiency syndromes.
Schulze A. Schulze A. Mol Cell Biochem. 2003 Feb;244(1-2):143-50. Mol Cell Biochem. 2003. PMID: 12701824 Review.
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.
Scharre S, Posset R, Garbade SF, Gleich F, Seidl MJ, Druck AC, Okun JG, Gropman AL, Nagamani SCS, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Scharre S, et al. Ann Clin Transl Neurol. 2022 Nov;9(11):1715-1726. doi: 10.1002/acn3.51668. Epub 2022 Oct 10. Ann Clin Transl Neurol. 2022. PMID: 36217298 Free PMC article.
The Ontario Newborn Screening Program: A novel referral center model.
Schulze A, Chakraborty P. Schulze A, et al. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2023 Nov;66(11):1205-1213. doi: 10.1007/s00103-023-03786-1. Epub 2023 Oct 4. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2023. PMID: 37792011 Review. English.
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Chakraborty P, Geraghty MT, Irwin JK, Mitchell JJ, Stockler S, Nicholls SG, Offringa M, Rahman A, Tessier LA, Butcher NJ, Iverson R, Lamoureux M, Clifford TJ, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Jain Ghai S, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Among authors: schulze a. Pediatrics. 2021 Aug;148(2):e2020037747. doi: 10.1542/peds.2020-037747. Epub 2021 Jul 15. Pediatrics. 2021. PMID: 34266901
165 results