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Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Neurology. 2018 Nov 27;91(22):e2078-e2088. doi: 10.1212/WNL.0000000000006567. Epub 2018 Nov 9.
Neurology. 2018.
PMID: 30413629
Free PMC article.
Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death.
Miceikaite I, Bak GS, Larsen MJ, Kristiansen BS, Torring PM.
Miceikaite I, et al. Among authors: kristiansen bs.
Clin Case Rep. 2021 Jul 21;9(7):e04507. doi: 10.1002/ccr3.4507. eCollection 2021 Jul.
Clin Case Rep. 2021.
PMID: 34306696
Free PMC article.
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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibæk M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skålhegg BS, Otaify GA, Temtamy S, Aglan M, Jønch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL.
Palencia-Campos A, et al. Among authors: kristiansen bs.
Am J Hum Genet. 2020 Nov 5;107(5):977-988. doi: 10.1016/j.ajhg.2020.09.005. Epub 2020 Oct 14.
Am J Hum Genet. 2020.
PMID: 33058759
Free PMC article.
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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: kristiansen bs.
Prenat Diagn. 2023 Aug;43(9):1132-1141. doi: 10.1002/pd.6402. Epub 2023 Jul 3.
Prenat Diagn. 2023.
PMID: 37355983
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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: kristiansen bs.
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.
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