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Page 1
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
van de Kamp JM, Lefeber DJ, Ruijter GJ, Steggerda SJ, den Hollander NS, Willems SM, Matthijs G, Poorthuis BJ, Wevers RA. van de Kamp JM, et al. Among authors: steggerda sj. J Med Genet. 2007 Apr;44(4):277-80. doi: 10.1136/jmg.2006.044735. Epub 2006 Dec 8. J Med Genet. 2007. PMID: 17158594 Free PMC article.
Fetal cerebellar hemorrhage: three cases with postnatal follow-up.
Aziz NA, Peeters-Scholte CM, de Bruine FT, Klumper FJ, Adama van Scheltema PN, Lopriore E, Steggerda SJ. Aziz NA, et al. Among authors: steggerda sj. Ultrasound Obstet Gynecol. 2016 Jun;47(6):785-6. doi: 10.1002/uog.15772. Ultrasound Obstet Gynecol. 2016. PMID: 26426778 Free article. No abstract available.
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene.
van Rij MC, Jansen FA, Hellebrekers DM, Onkenhout W, Smeets HJ, Hendrickx AT, Gottschalk RW, Steggerda SJ, Peeters-Scholte CM, Haak MC, Hilhorst-Hofstee Y. van Rij MC, et al. Among authors: steggerda sj. Clin Case Rep. 2016 Mar 16;4(4):425-8. doi: 10.1002/ccr3.511. eCollection 2016 Apr. Clin Case Rep. 2016. PMID: 27099744 Free PMC article.
Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.
Peeters-Scholte CMPCD, Adama van Scheltema PN, Klumper FJCM, Everwijn SMP, Koopmans M, Hoffer MJV, Koopmann TT, Ruivenkamp CAL, Steggerda SJ, van der Knaap MS, Santen GWE. Peeters-Scholte CMPCD, et al. Among authors: steggerda sj. Brain. 2017 Nov 1;140(11):e66. doi: 10.1093/brain/awx239. Brain. 2017. PMID: 29053797 No abstract available.
Putting genome-wide sequencing in neonates into perspective.
van der Sluijs PJ, Aten E, Barge-Schaapveld DQCM, Bijlsma EK, Bökenkamp-Gramann R, Donker Kaat L, van Doorn R, van de Putte DF, van Haeringen A, Ten Harkel ADJ, Hilhorst-Hofstee Y, Hoffer MJV, den Hollander NS, van Ierland Y, Koopmans M, Kriek M, Moghadasi S, Nibbeling EAR, Peeters-Scholte CMPCD, Potjer TP, van Rij M, Ruivenkamp CAL, Rutten JW, Steggerda SJ, Suerink M, Tan RNGB, van der Tuin K, Visser R, van der Werf-'t Lam AS, Williams M, Witlox R, Santen GWE. van der Sluijs PJ, et al. Among authors: steggerda sj. Genet Med. 2019 May;21(5):1074-1082. doi: 10.1038/s41436-018-0293-0. Epub 2018 Oct 5. Genet Med. 2019. PMID: 30287924 Free article.
Correction: Putting genome-wide sequencing in neonates into perspective.
van der Sluijs PJ, Aten E, Barge-Schaapveld DQCM, Bijlsma EK, Bökenkamp-Gramann R, Kaat LD, van Doorn R, van de Putte DF, van Haeringen A, Ten Harkel ADJ, Hilhorst-Hofstee Y, Hoffer MJV, den Hollander NS, van Ierland Y, Koopmans M, Kriek M, Moghadasi S, Nibbeling EAR, Peeters-Scholte CMPCD, Potjer TP, van Rij M, Ruivenkamp CAL, Rutten JW, Steggerda SJ, Suerink M, Tan RNGB, van der Tuin K, Visser R, van der Werf-'t Lam AS, Williams M, Witlox R, Santen GWE. van der Sluijs PJ, et al. Among authors: steggerda sj. Genet Med. 2019 Sep;21(9):2159-2164. doi: 10.1038/s41436-018-0363-3. Genet Med. 2019. PMID: 30464259 Free article.
98 results