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New Genetic Variant in the MYH7 Gene Associated With Hypoplastic Right Heart Syndrome and Hypertrophic Cardiomyopathy in the Same Family.
Polyakova E, van Gils JM, Stöger JL, Kiès P, Egorova AD, Koopmann TT, van Dijk T, DeRuiter MC, Barge-Schaapveld DQCM, Jongbloed MRM. Polyakova E, et al. Among authors: van dijk t. Circ Genom Precis Med. 2023 Dec;16(6):e004184. doi: 10.1161/CIRCGEN.123.004184. Epub 2023 Oct 11. Circ Genom Precis Med. 2023. PMID: 37818629 No abstract available.
Parents' views on accepting, declining, and expanding newborn bloodspot screening.
van der Pal SM, Wins S, Klapwijk JE, van Dijk T, Kater-Kuipers A, van der Ploeg CPB, Jans SMPJ, Kemp S, Verschoof-Puite RK, van den Bosch LJM, Henneman L. van der Pal SM, et al. Among authors: van dijk t, van der ploeg cpb, van den bosch ljm. PLoS One. 2022 Aug 18;17(8):e0272585. doi: 10.1371/journal.pone.0272585. eCollection 2022. PLoS One. 2022. PMID: 35980961 Free PMC article.
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.
van Dijk T, Ferdinandusse S, Ruiter JPN, Alders M, Mathijssen IB, Parboosingh JS, Innes AM, Meijers-Heijboer H, Poll-The BT, Bernier FP, Wanders RJA, Lamont RE, Baas F. van Dijk T, et al. Eur J Hum Genet. 2018 Dec;26(12):1752-1758. doi: 10.1038/s41431-018-0233-0. Epub 2018 Aug 8. Eur J Hum Genet. 2018. PMID: 30089828 Free PMC article.
Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective.
van Dijk T, Kater A, Jansen M, Dondorp WJ, Blom M, Kemp S, Langeveld M, Cornel MC, van der Pal SM, Henneman L. van Dijk T, et al. Among authors: van der pal sm. Front Pediatr. 2021 Oct 6;9:706394. doi: 10.3389/fped.2021.706394. eCollection 2021. Front Pediatr. 2021. PMID: 34692604 Free PMC article.
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.
Riquelme J, Takada S, van Dijk T, Peña F, Boogaard MW, van Duyvenvoorde HA, Pico-Knijnenburg I, Wit JM, van der Burg M, Mericq V, Losekoot M. Riquelme J, et al. Among authors: van duyvenvoorde ha, van dijk t, van der burg m. Horm Res Paediatr. 2021;94(11-12):448-455. doi: 10.1159/000520410. Epub 2021 Oct 27. Horm Res Paediatr. 2021. PMID: 34706368
234 results