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Page 1
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go.
Neuromuscul Disord. 2021 Jun;31(6):574-582. doi: 10.1016/j.nmd.2021.03.007. Epub 2021 Apr 7.
Neuromuscul Disord. 2021.
PMID: 33985857
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.
Loeber JG, Platis D, Zetterström RH, Almashanu S, Boemer F, Bonham JR, Borde P, Brincat I, Cheillan D, Dekkers E, Dimitrov D, Fingerhut R, Franzson L, Groselj U, Hougaard D, Knapkova M, Kocova M, Kotori V, Kozich V, Kremezna A, Kurkijärvi R, La Marca G, Mikelsaar R, Milenkovic T, Mitkin V, Moldovanu F, Ceglarek U, O'Grady L, Oltarzewski M, Pettersen RD, Ramadza D, Salimbayeva D, Samardzic M, Shamsiddinova M, Songailiené J, Szatmari I, Tabatadze N, Tezel B, Toromanovic A, Tovmasyan I, Usurelu N, Vevere P, Vilarinho L, Vogazianos M, Yahyaoui R, Zeyda M, Schielen PCJI.
Loeber JG, et al. Among authors: borde p.
Int J Neonatal Screen. 2021 Mar 5;7(1):15. doi: 10.3390/ijns7010015.
Int J Neonatal Screen. 2021.
PMID: 33808002
Free PMC article.
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Global impact of COVID-19 on newborn screening programmes.
Koracin V, Loeber JG, Mlinaric M, Battelino T, Bonham JR, Groselj U; COVID-NBS ISNS global network.
Koracin V, et al.
BMJ Glob Health. 2022 Mar;7(3):e007780. doi: 10.1136/bmjgh-2021-007780.
BMJ Glob Health. 2022.
PMID: 35236661
Free PMC article.
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Biomarkers for Early Diagnosis of Hemophagocytic Lymphohistiocytosis in Critically Ill Patients.
Debaugnies F, Mahadeb B, Nagant C, Meuleman N, De Bels D, Wolff F, Gottignies P, Salaroli A, Borde P, Voué M, Corazza F.
Debaugnies F, et al. Among authors: borde p.
J Clin Immunol. 2021 Apr;41(3):658-665. doi: 10.1007/s10875-020-00950-z. Epub 2021 Jan 8.
J Clin Immunol. 2021.
PMID: 33417087
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Regulatory landscape of providing information on newborn screening to parents across Europe.
Franková V, Driscoll RO, Jansen ME, Loeber JG, Kožich V, Bonham J, Borde P, Brincat I, Cheillan D, Dekkers E, Fingerhut R, Kuš IB, Girginoudis P, Groselj U, Hougaard D, Knapková M, la Marca G, Malniece I, Nanu MI, Nennstiel U, Olkhovych N, Oltarzewski M, Pettersen RD, Racz G, Reinson K, Salimbayeva D, Songailiene J, Vilarinho L, Vogazianos M, Zetterström RH, Zeyda M; Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee.
Franková V, et al. Among authors: borde p.
Eur J Hum Genet. 2021 Jan;29(1):67-78. doi: 10.1038/s41431-020-00716-6. Epub 2020 Oct 10.
Eur J Hum Genet. 2021.
PMID: 33040093
Free PMC article.
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Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?
Scalais E, Geron C, Pierron C, Cardillo S, Schlesser V, Mataigne F, Borde P, Regal L.
Scalais E, et al. Among authors: borde p.
Mol Genet Metab. 2023 Nov;140(3):107681. doi: 10.1016/j.ymgme.2023.107681. Epub 2023 Aug 11.
Mol Genet Metab. 2023.
PMID: 37604084
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Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.
Scalais E, Osterheld E, Geron C, Pierron C, Chafai R, Schlesser V, Borde P, Regal L, Laeremans H, van Gassen KLI, van den Heuvel LB, De Meirleir L.
Scalais E, et al. Among authors: borde p.
JIMD Rep. 2019 Jul 1;49(1):70-79. doi: 10.1002/jmd2.12055. eCollection 2019 Sep.
JIMD Rep. 2019.
PMID: 31497484
Free PMC article.
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