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Page 1
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: kneller k. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
Biallelic hypomorphic variants in CAD cause uridine-responsive macrocytic anaemia with elevated haemoglobin-A2.
Steinberg-Shemer O, Yacobovich J, Noy-Lotan S, Dgany O, Krasnov T, Barg A, Landau YE, Kneller K, Somech R, Gilad O, Brik Simon D, Orenstein N, Izraeli S, Del Caño-Ochoa F, Tamary H, Ramón-Maiques S. Steinberg-Shemer O, et al. Among authors: kneller k. Br J Haematol. 2024 Mar;204(3):1067-1071. doi: 10.1111/bjh.19215. Epub 2023 Nov 20. Br J Haematol. 2024. PMID: 37984840
[Vitamins in pediatrics].
Kneller K. Kneller K. Rev Med Brux. 2012 Sep;33(4):339-45. Rev Med Brux. 2012. PMID: 23091940 Review. French.
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Daas S, Abu Salah N, Anikster Y, Barel O, Damseh NS, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Habib C, Josefsberg S, Korman SH, Kneller K, Landau Y, Lerman-Sagie T, Mandel H, Manor Y, Moady Abdalla T, Rock R, Rostami N, Saada A, Saraf-Levy T, Shaul Lotan N, Spiegel R, Staretz-Chacham O, Tal G, Ulanovsky I, Vaisid T, Wilnai Y, Almashanu S. Daas S, et al. Among authors: kneller k. J Inherit Metab Dis. 2023 Mar;46(2):232-242. doi: 10.1002/jimd.12580. Epub 2022 Dec 20. J Inherit Metab Dis. 2023. PMID: 36515074
A framework and toolkit of interventions to enhance reflective learning among health-care professionals: the PEARL mixed-methods study.
Bion J, Brookes O, Brown C, Tarrant C, Archer J, Buckley D, Buckley LM, Clement I, Evison F, Smith FG, Gibbins C, Hayton EJ, Jones J, Lilford R, Mullhi R, Packer G, Perkins GD, Shelton J, Snelson C, Sullivan P, Vlaev I, Wolstenholme D, Wright S; the PEARL collaboration. Bion J, et al. Southampton (UK): NIHR Journals Library; 2020 Aug. Southampton (UK): NIHR Journals Library; 2020 Aug. PMID: 32865938 Free Books & Documents. Review.
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel.
Kristal E, Pode-Shakked B, Hazan G, Banne E, Ling G, David O, Shany E, Raas-Rothschild A, Anikster Y, Kneller K, Hershkovitz E, Landau YE, Spiegel R, Zehavi Y, Staretz-Chacham O. Kristal E, et al. Among authors: kneller k. Orphanet J Rare Dis. 2021 Sep 8;16(1):379. doi: 10.1186/s13023-021-02007-9. Orphanet J Rare Dis. 2021. PMID: 34496908 Free PMC article.
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.
Rock R, Rock O, Daas S, Biton-Regev V, Sagiv N, Salah NA, Anikster Y, Barel O, Cohen RH, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Herskovitz E, Josefsberg S, Khammash H, Kneller K, Korman SH, Landau YE, Lerman-Sagie T, Mandel H, Pras E, Reznik-Wolf H, Shaag A, Lotan NS, Spiegel R, Tal G, Staretz-Chacham O, Wilnai Y, Almashanu S. Rock R, et al. Among authors: kneller k. J Inherit Metab Dis. 2024 Sep 24. doi: 10.1002/jimd.12800. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 39318119
Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
Pode-Shakked N, Korman SH, Pode-Shakked B, Landau Y, Kneller K, Abraham S, Shaag A, Ulanovsky I, Daas S, Saraf-Levy T, Reznik-Wolf H, Vivante A, Pras E, Almashanu S, Anikster Y. Pode-Shakked N, et al. Among authors: kneller k. Eur J Med Genet. 2020 Jun;63(6):103901. doi: 10.1016/j.ejmg.2020.103901. Epub 2020 Mar 6. Eur J Med Genet. 2020. PMID: 32151765
Patient experience and reflective learning (PEARL): a mixed methods protocol for staff insight development in acute and intensive care medicine in the UK.
Brookes O, Brown C, Tarrant C, Archer J, Buckley D, Buckley LM, Clement I, Evison F, Gao Smith F, Gibbins C, Hayton E, Jones J, Lilford R, Mullhi R, Packer G, Perkins G, Shelton J, Snelson C, Sullivan P, Vlaev I, Wolstenholme D, Wright SE, Bion J; On-behalf-of the PEARL Collaboration. Brookes O, et al. BMJ Open. 2019 Jul 24;9(7):e030679. doi: 10.1136/bmjopen-2019-030679. BMJ Open. 2019. PMID: 31345985 Free PMC article.