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Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.
Koopmann TT, Jamshidi Y, Naghibi-Sistani M, van der Klift HM, Birjandi H, Al-Hassnan Z, Alwadai A, Zifarelli G, Karimiani EG, Sedighzadeh S, Bahreini A, Nouri N, Peter M, Watanabe K, van Duyvenvoorde HA, Ruivenkamp CAL, Teunissen AKK, Ten Harkel ADJ, van Duinen SG, Haak MC, Prada CE, Santen GWE, Maroofian R. Koopmann TT, et al. Among authors: haak mc. Eur J Hum Genet. 2023 Jan;31(1):97-104. doi: 10.1038/s41431-022-01204-9. Epub 2022 Oct 17. Eur J Hum Genet. 2023. PMID: 36253531 Free PMC article.
Umbilical blood flow patterns directly after birth before delayed cord clamping.
Boere I, Roest AA, Wallace E, Ten Harkel AD, Haak MC, Morley CJ, Hooper SB, te Pas AB. Boere I, et al. Among authors: haak mc. Arch Dis Child Fetal Neonatal Ed. 2015 Mar;100(2):F121-5. doi: 10.1136/archdischild-2014-307144. Epub 2014 Nov 11. Arch Dis Child Fetal Neonatal Ed. 2015. PMID: 25389141
Right ventricular outflow tract obstruction in complicated monochorionic twin pregnancy.
Eschbach SJ, Boons LSTM, Van Zwet E, Middeldorp JM, Klumper FJCM, Lopriore E, Teunissen AKK, Rijlaarsdam ME, Oepkes D, Ten Harkel ADJ, Haak MC. Eschbach SJ, et al. Among authors: haak mc. Ultrasound Obstet Gynecol. 2017 Jun;49(6):737-743. doi: 10.1002/uog.16008. Epub 2017 May 2. Ultrasound Obstet Gynecol. 2017. PMID: 27363529 Free article.
From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care.
de Koning MA, Haak MC, Adama van Scheltema PN, Peeters-Scholte CMPCD, Koopmann TT, Nibbeling EAR, Aten E, den Hollander NS, Ruivenkamp CAL, Hoffer MJV, Santen GWE. de Koning MA, et al. Among authors: haak mc. Genet Med. 2019 Oct;21(10):2303-2310. doi: 10.1038/s41436-019-0499-9. Epub 2019 Mar 28. Genet Med. 2019. PMID: 30918357 Free article.
Cortical development in fetuses with congenital heart defects using an automated brain-age prediction algorithm.
Everwijn SMP, Namburete AIL, van Geloven N, Jansen FAR, Papageorghiou AT, Noble AJ, Teunissen AKK, Rozendaal L, Blom NA, van Lith JMM, Haak MC. Everwijn SMP, et al. Among authors: haak mc. Acta Obstet Gynecol Scand. 2019 Dec;98(12):1595-1602. doi: 10.1111/aogs.13687. Epub 2019 Aug 24. Acta Obstet Gynecol Scand. 2019. PMID: 31322290 Free article.
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.
van Nisselrooij AEL, Lugthart MA, Clur SA, Linskens IH, Pajkrt E, Rammeloo LA, Rozendaal L, Blom NA, van Lith JMM, Knegt AC, Hoffer MJV, Aten E, Santen GWE, Haak MC. van Nisselrooij AEL, et al. Among authors: haak mc. Genet Med. 2020 Jul;22(7):1206-1214. doi: 10.1038/s41436-020-0791-8. Epub 2020 Apr 28. Genet Med. 2020. PMID: 32341573 Free PMC article.
193 results