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C J M van der Sijs-Bos

Explore the profile of C J M van der Sijs-Bos including associated specialties, affiliations and a list of published articles. Areas
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Articles 4
Citations 25
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Recent Articles
1.
Bijvoet G, van der Sijs-Bos C, Wielders J, Groot O
Neth J Med . 2016 Jan; 74(1):36-9. PMID: 26819360
In this case report we describe a 67-year-old male, admitted to the ICU with pneumonia who unexpectedly developed a fatal coma due to hyperammonaemia. At postmortem the diagnosis late-onset ornithine...
2.
van Capelle C, Hogeman P, van der Sijs-Bos C, Heggelman B, Idowu B, Slootweg P, et al.
Eur J Pediatr . 2006 Nov; 166(9):905-9. PMID: 17120035
We report on a child who presented clinical manifestations of both neurofibromatosis type 1 (NF1) and cherubism. With genetic testing, we found a mutation in the NF-1 gene, confirming the...
3.
de Pater J, Nikkels P, Poot M, Eleveld M, Stigter R, van der Sijs-Bos C, et al.
Pediatr Dev Pathol . 2005 Oct; 8(4):497-503. PMID: 16222479
During routine ultrasound screening at 12 weeks 5 days of gestation, a nuchal translucency of 7 mm, an omphalocele, and fetal hydrops were found and prompted chorionic villus sampling at...
4.
de Pater J, Govaerts L, de Man S, van der Sijs-Bos C, Christiaens G, Van Dam W, et al.
Prenat Diagn . 2003 Sep; 23(9):747-51. PMID: 12975787
Objective: This study aimed to identify a marker chromosome and characterize the short arm of a derivative chromosome 5 in a foetus with the following karyotype: mos 47,XX,del(5)(p?),+i(5)(p10)[50]/48,XX,del(5)(p?),+i(5)(p10),+mar[25]. Method: Amniocentesis...