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Author/Creator van Haeringen, A

2. An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three‐generation family at serious risk for aortic dissection. (19th April 2013)

Authors:
Hilhorst‐Hofstee, Y; Scholte, AJHA; Rijlaarsdam, MEB; van Haeringen, A; Kroft, LJ; Reijnierse, M; Ruivenkamp, CAL; Versteegh, MIM; Pals, G; Breuning, MH
Journal:
Clinical genetics
Issue:
Volume 83:Number 4(2013:Apr.)
Page Start:
337
Record Type:
Journal Article
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3. Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. Issue 2 (24th June 2005)

Authors:
Rosenberg, C; Knijnenburg, J; Bakker, E; Vianna-Morgante, A M; Sloos, W; Otto, P A; Kriek, M; Hansson, K; Krepischi-Santos, A C V; Fiegler, H; Carter, N P; Bijlsma, E K; van Haeringen, A; Szuhai, K; Tanke, H J
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 2(2006)
Page Start:
180
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Issue 6 (2nd April 2009)

Authors:
Lacbawan, F; Solomon, B D; Roessler, E; El-Jaick, K; Domené, S; Vélez, J I; Zhou, N; Hadley, D; Balog, J Z; Long, R; Fryer, A; Smith, W; Omar, S; McLean, S D; Clarkson, K; Lichty, A; Clegg, N J; Delgado, M R; Levey, E; Stashinko, E
Journal:
Journal of medical genetics
Issue:
Volume 46:Issue 6(2009)
Page Start:
389
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders. The Rotterdam/Leiden Genetics Workgroup. Issue 5 (May 1997)

Authors:
DudokdeWit, A C; Tibben, A; Duivenvoorden, H J; Frets, P G; Zoeteweij, M W; Losekoot, M; van Haeringen, A; Niermeijer, M F; Passchier, J
Journal:
Journal of medical genetics
Issue:
Volume 34:Issue 5(1997)
Page Start:
382
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗