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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
Lahrouchi N, Postma AV, Salazar CM, De Laughter DM, Tjong F, Piherová L, Bowling FZ, Zimmerman D, Lodder EM, Ta-Shma A, Perles Z, Beekman L, Ilgun A, Gunst Q, Hababa M, Škorić-Milosavljević D, Stránecký V, Tomek V, de Knijff P, de Leeuw R, Robinson JY, Burn SC, Mustafa H, Ambrose M, Moss T, Jacober J, Niyazov DM, Wolf B, Kim KH, Cherny S, Rousounides A, Aristidou-Kallika A, Tanteles G, Ange-Line B, Denommé-Pichon AS, Francannet C, Ortiz D, Haak MC, Ten Harkel AD, Manten GT, Dutman AC, Bouman K, Magliozzi M, Radio FC, Santen GW, Herkert JC, Brown HA, Elpeleg O, van den Hoff MJ, Mulder B, Airola MV, Kmoch S, Barnett JV, Clur SA, Frohman MA, Bezzina CR. Lahrouchi N, et al. Among authors: manten gt. J Clin Invest. 2021 Mar 1;131(5):e142148. doi: 10.1172/JCI142148. J Clin Invest. 2021. PMID: 33645542 Free PMC article.
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Corsten-Janssen N, Bouman K, Diphoorn JCD, Scheper AJ, Kinds R, El Mecky J, Breet H, Verheij JBGM, Suijkerbuijk R, Duin LK, Manten GTR, van Langen IM, Sijmons RH, Sikkema-Raddatz B, Westers H, van Diemen CC. Corsten-Janssen N, et al. Among authors: manten gtr. Prenat Diagn. 2020 Sep;40(10):1300-1309. doi: 10.1002/pd.5781. Epub 2020 Jul 20. Prenat Diagn. 2020. PMID: 32627857 Free PMC article.
Using three-dimensional ultrasound in predicting complex gastroschisis: A longitudinal, prospective, multicenter cohort study.
Hijkoop A, Lap CCMM, Aliasi M, Mulder EJH, Kramer WLM, Brouwers HAA, van Baren R, Pajkrt E, van Kaam AH, Bilardo CM, Pistorius LR, Visser GHA, Wijnen RMH, Tibboel D, Manten GTR, Cohen-Overbeek TE. Hijkoop A, et al. Among authors: manten gtr. Prenat Diagn. 2019 Dec;39(13):1204-1212. doi: 10.1002/pd.5568. Epub 2019 Oct 25. Prenat Diagn. 2019. PMID: 31600419 Free PMC article.
Thanatophoric dysplasia: role of 3D sonography.
Pistorius LR, Manten GT, Nikkels PG. Pistorius LR, et al. Among authors: manten gt. AJR Am J Roentgenol. 2010 Jun;194(6):W539; author reply W544. doi: 10.2214/AJR.09.3977. AJR Am J Roentgenol. 2010. PMID: 20489076 No abstract available.
The effectiveness of multifetal pregnancy reduction in trichorionic triplet gestation.
van de Mheen L, Everwijn SM, Knapen MF, Oepkes D, Engels M, Manten GT, Zondervan H, Wirjosoekarto SA, van Vugt JM, Erwich JJ, Nij Bijvank SW, Ravelli A, Heemelaar S, van Pampus MG, de Groot CJ, Mol BW, Pajkrt E. van de Mheen L, et al. Among authors: manten gt. Am J Obstet Gynecol. 2014 Nov;211(5):536.e1-6. doi: 10.1016/j.ajog.2014.04.023. Epub 2014 Apr 22. Am J Obstet Gynecol. 2014. PMID: 24769009
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