OpenURL Connection Search

Select item for more details and to access through your institution.

Subtelomeric chromosome aberrations: still a lot to learn.
Published in:
Clinical Genetics, 2005, v. 68, n. 5, p. 397, doi. 10.1111/j.1399-0004.2005.00506.x
By:
- Moog, U.;
- Arens, Y. H. J. M.;
- van Lent-Albrechts, J. C. M.;
- Huijts, P. E. A.;
- Smeets, E. E. J.;
- Schrander-Stumpel, C. T. R. M.;
- Engelen, J. J. M.
Publication type:
Article
Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).
Published in:
Clinical Genetics, 2004, v. 66, n. 4, p. 318, doi. 10.1111/j.1399-0004.2004.00308.x
By:
- Kleefstra, T.;
- Franken, C. E.;
- Arens, Y. H. J. M.;
- Ramakers, G. J. A.;
- Yntema, H. G.;
- Sistermans, E. A.;
- Hulsmans, C. F. C. H.;
- Nillesen, W. N.;
- van Bokhoven, H.;
- de Vries, B. B. A.;
- Hamel, B. C. J.
Publication type:
Article
VP13.07: Prenatal recurrence of artrogryposis.
Published in:
Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 103, doi. 10.1002/uog.22516
By:
- Wolfs, S.;
- Teeffelen, S.V.;
- Al Nasiry, S.;
- Willekes, C.;
- Die, C.;
- Arens, Y.
Publication type:
Article
EP04.12: Perinatal features of Smith‐Lemli‐Opitz Syndrome.
Published in:
Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 251, doi. 10.1002/uog.21167
By:
- Bernaerts, R.;
- Witters, I.;
- Coumans, A.;
- Arens, Y.
Publication type:
Article
P05.10: Using whole‐exome sequencing in prenatal diagnosis of severe fetal abnormalities.
Published in:
Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 155, doi. 10.1002/uog.19665
By:
- Kramer, D.;
- Schiffer, V.;
- Arens, Y.;
- Al Nasiry, S.
Publication type:
Article
P02.04: Diagnosis of Herlyn–Werner–Wunderlich as a result of fetal anomalies in the second trimester scan.
Published in:
Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 142, doi. 10.1002/uog.19628
By:
- Kramer, D.;
- Schiffer, V.;
- Arens, Y.;
- Al Nasiry, S.;
- Huruz, F.;
- Dael, C.
Publication type:
Article
The cognitive and socio-emotional development of 5-year-old children born after PGD.
Published in:
2018
By:
- Heijligers, M;
- Verheijden, L M M;
- Jonkman, L M;
- Sangen, M van der;
- Meijer-Hoogeveen, M;
- Arens, Y;
- Hoeven, M A van der;
- Die-Smulders, C E M de;
- van der Sangen, M;
- van der Hoeven, M A;
- de Die-Smulders, C E M
Publication type:
journal article
Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD.
Published in:
Human Reproduction, 2015, v. 30, n. 2, p. 484, doi. 10.1093/humrep/deu314
By:
- De Krom, G.;
- Arens, Y. H. J. M.;
- Coonen, E.;
- Van Ravenswaaij-Arts, C. M. A.;
- Meijer-Hoogeveen, M.;
- Evers, J. L. H.;
- Van Golde, R. J. T.;
- De Die-Smulders, C. E. M.
Publication type:
Article
P09.02: Uniparental disomy 14q32.2 in a fetus presenting with omphalocele.
Published in:
Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 199, doi. 10.1002/uog.9726
By:
- Wirjosoekarto, S.;
- Willekes, C.;
- Stegmann, A.;
- Macville, M.;
- Frints, S.;
- Arens, Y.
Publication type:
Article
Motives and considerations regarding PGT in couples carrying a structural chromosomal abnormality: a qualitative exploration.
Published in:
Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 7, p. 1719, doi. 10.1007/s10815-020-01810-w
By:
- De Krom, G.;
- Severijns, Y.;
- Vlieg, W. L.;
- Arens, Y. H. J. M.;
- Van Golde, R. J. T.;
- De Die-Smulders, C. E. M.;
- Van Osch, L. A. D. M.
Publication type:
Article
Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects.
Published in:
Cytogenetic & Genome Research, 2011, v. 135, n. 3/4, p. 251, doi. 10.1159/000331272
By:
- Breckpot, J.;
- Thienpont, B.;
- Arens, Y.;
- Tranchevent, L.C.;
- Vermeesch, J.R.;
- Moreau, Y.;
- Gewillig, M.;
- Devriendt, K.
Publication type:
Article
Recurrent and founder mutations in the Netherlands: cardiac Troponin I ( TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.
Published in:
Netherlands Heart Journal, 2011, v. 19, n. 7/8, p. 344, doi. 10.1007/s12471-011-0135-z
By:
- Wijngaard, A.;
- Volders, P.;
- Tintelen, J.;
- Jongbloed, J.;
- Berg, M.;
- Lekanne Deprez, R.;
- Mannens, M.;
- Hofmann, N.;
- Slegtenhorst, M.;
- Dooijes, D.;
- Michels, M.;
- Arens, Y.;
- Jongbloed, R.;
- Smeets, B.
Publication type:
Article
Exercise related ventricular arrhythmias are related to cardiac fibrosis in hypertrophic cardiomyopathy mutation carriers.
Published in:
Netherlands Heart Journal, 2011, v. 19, n. 4, p. 168, doi. 10.1007/s12471-011-0090-8
By:
- Rijsingen, I.;
- Bekkers, S.;
- Schalla, S.;
- Hermans-van Ast, J.;
- Snoep, G.;
- Alzand, B.;
- Arens, Y.;
- Wijngaard, A.;
- Crijns, H.;
- Pinto, Y.
Publication type:
Article
Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest doubleheterozygosity?
Published in:
Netherlands Heart Journal, 2009, v. 17, n. 12, p. 458, doi. 10.1007/BF03086304
By:
- Rijsingen, I.;
- Ast, J.;
- Arens, Y.;
- Schalla, S.;
- Die-Smulders, C.;
- Wijngaard, A.;
- Pinto, Y.
Publication type:
Article

Found: 14