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620 results

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Comprehensive prenatal diagnostics: Exome versus genome sequencing.
Miceikaite I, Fagerberg C, Brasch-Andersen C, Torring PM, Kristiansen BS, Hao Q, Sperling L, Ibsen MH, Löser K, Bendsen EA, Ousager LB, Larsen MJ. Miceikaite I, et al. Among authors: sperling l. Prenat Diagn. 2023 Aug;43(9):1132-1141. doi: 10.1002/pd.6402. Epub 2023 Jul 3. Prenat Diagn. 2023. PMID: 37355983
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
Salian S, Scala M, Nguyen TTM, Severino M, Accogli A, Amadori E, Torella A, Pinelli M, Hudson B, Boothe M, Hurst A, Ben-Omran T, Larsen MJ, Fagerberg CR, Sperling L, Miceikaite I, Herissant L, Doco-Fenzy M, Jennesson M, Nigro V, Striano P, Minetti C, Sachdev RK, Palmer EE, Capra V, Campeau PM. Salian S, et al. Among authors: sperling l. Clin Genet. 2021 Nov;100(5):607-614. doi: 10.1111/cge.14033. Epub 2021 Jul 29. Clin Genet. 2021. PMID: 34296759
Prenatal detection of orofacial clefts in Denmark from 2009 to 2018.
Sander FH, Jørgensen DS, Jakobsen LP, Jensen AN, Lousen T, Sandager P, Sperling L, Vogel I, Petersen OB, Vedel C; Collaborators. Sander FH, et al. Among authors: sperling l. Ultrasound Obstet Gynecol. 2024 Apr;63(4):507-513. doi: 10.1002/uog.27488. Epub 2024 Mar 13. Ultrasound Obstet Gynecol. 2024. PMID: 37724632 Free article.
Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing.
Miceikaitė I, Hao Q, Brasch-Andersen C, Fagerberg CR, Torring PM, Kristiansen BS, Ousager LB, Sperling L, Ibsen MH, Löser K, Larsen MJ. Miceikaitė I, et al. Among authors: sperling l. N Engl J Med. 2023 Nov 23;389(21):2017-2019. doi: 10.1056/NEJMc2307918. N Engl J Med. 2023. PMID: 37991863 No abstract available.
Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare.
Vogel I, Andreasen L, Balslev-Harder M, Becher N, Ernst A, Gadsbøll K, Hjortshøj TD, Hvidbjerg MS, Larsen M, Lou S, Bay Lund IC, Pedersen LH, Sønderberg Roos LK, Sperling L, Sunde L, Tørring PM, Vedel C, Petersen OB. Vogel I, et al. Among authors: sperling l. Prenat Diagn. 2025 Mar 23. doi: 10.1002/pd.6780. Online ahead of print. Prenat Diagn. 2025. PMID: 40122702
620 results