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Author/Creator Vermeer, S

3. Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy. Issue 1 (23rd November 2011)

Authors:
Losekoot, M; Ruivenkamp, C A L; Tholens, A P; Grimbergen, J E M A; Vijfhuizen, L; Vermeer, S; Dijkman, H B; Cornelissen, E A M; Bongers, E M H F; Peters, D J M
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 1(2012)
Page Start:
37
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008. (27th March 2013)

Authors:
van Rij, MC; de Koning Gans, PAM; Aalfs, CM; Elting, M; Ippel, PF; Maat‐Kievit, JA; Vermeer, S; Verschuuren‐Bemelmans, CC; van Belzen, MJ; Belfroid, RDM; Losekoot, M; Geraedts, JPM; Roos, RAC; Tibben, A; de Die‐Smulders, CEM; Bijlsma, EK
Journal:
Clinical genetics
Issue:
Volume 85:Number 1(2014:Jan.)
Page Start:
78
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). Issue 12 (9th December 2004)

Authors:
Koolen, D A; Nillesen, W M; Versteeg, M H A; Merkx, G F M; Knoers, N V A M; Kets, M; Vermeer, S; van Ravenswaaij, C M A; de Kovel, C G; Brunner, H G; Smeets, D; de Vries, B B A; Sistermans, E A
Journal:
Journal of medical genetics
Issue:
Volume 41:Issue 12(2004)
Page Start:
892
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗