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The Effectiveness of an Online Decision Aid on Reproductive Options for Couples at Risk of Transmitting a Genetic Disease to their Offspring: Protocol for a Randomized Controlled Trial.
Published in:
Health Psychology Bulletin, 2023, v. 7, n. 1, p. 17, doi. 10.5334/hpb.39
By:
- SEVERIJNS, YIL;
- DE VRIES, HEIN;
- TAN-SINDHUNATA, GITA;
- STUURMAN, KYRA;
- OTTENHEIM, CECILE;
- LICHTENBELT, KLASKE;
- VAN KUIJK, SANDER;
- JOOSTEN, SARA;
- HOUWINK, ISA;
- CRUTZEN, RIK;
- CORSTEN-JANSSEN, NICOLE;
- BIJLSMA, EMILIA;
- DE DIE-SMULDERS, CHRISTINE;
- VAN OSCH, LIESBETH
Publication type:
Article
The effects of an online decision aid to support the reproductive decision‐making process of genetically at risk couples—A pilot study.
Published in:
Journal of Genetic Counseling, 2023, v. 32, n. 1, p. 153, doi. 10.1002/jgc4.1631
By:
- Severijns, Yil;
- Heijmans, Maartje W. F.;
- de Die‐Smulders, Christine E. M.;
- Bijlsma, Emilia K.;
- Corsten‐Janssen, Nicole;
- Joosten, Sara J. R.;
- van Kuijk, Sander M. J.;
- Lichtenbelt, Klaske D.;
- Ottenheim, Cecile P. E.;
- Stuurman, Kyra E.;
- Tan‐Sindhunata, Gita M. B.;
- de Vries, Hein;
- van Osch, Liesbeth A. D. M.
Publication type:
Article
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Published in:
2022
By:
- Galosi, Serena;
- Edani, Ban H;
- Martinelli, Simone;
- Hansikova, Hana;
- Eklund, Erik A;
- Caputi, Caterina;
- Masuelli, Laura;
- Corsten-Janssen, Nicole;
- Srour, Myriam;
- Oegema, Renske;
- Bosch, Daniëlle G M;
- Ellis, Colin A;
- Amlie-Wolf, Louise;
- Accogli, Andrea;
- Atallah, Isis;
- Averdunk, Luisa;
- Barañano, Kristin W;
- Bei, Roberto;
- Bagnasco, Irene;
- Brusco, Alfredo
Publication type:
journal article
Clinical and molecular effects of CHD7 in the heart.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 487, doi. 10.1002/ajmg.c.31590
By:
- Corsten‐Janssen, Nicole;
- Scambler, Peter J.
Publication type:
Article
CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3003, doi. 10.1002/ajmg.a.36747
By:
- CorstEN ‐ JanssEN, Nicole;
- du Marchie Sarvaas, Gideon J.;
- KerstjENs ‐ Frederikse, Wilhelmina S.;
- Hoefsloot, Lies H.;
- van Beynum, Ingrid M.;
- Kapusta, Livia;
- van RavENswaaij ‐ Arts, Conny M.A.
Publication type:
Article
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2843, doi. 10.1002/ajmg.a.36680
By:
- Snijders Blok, Charlotte;
- Corsten‐Janssen, Nicole;
- FitzPatrick, David R.;
- Romano, Corrado;
- Fichera, Marco;
- Vitello, Girolamo Aurelio;
- Willemsen, Marjolein H.;
- Schoots, Jeroen;
- Pfundt, Rolph;
- van Ravenswaaij‐Arts, Conny M.A.;
- Hoefsloot, Lies;
- Kleefstra, Tjitske
Publication type:
Article
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02658-w
By:
- Engwerda, Aafke;
- Kerstjens-Frederikse, Wilhelmina S.;
- Corsten-Janssen, Nicole;
- Dijkhuizen, Trijnie;
- van Ravenswaaij-Arts, Conny M. A.
Publication type:
Article
Maternal occupational exposure and congenital heart defects in offspring.
Published in:
Scandinavian Journal of Work, Environment & Health, 2020, v. 46, n. 6, p. 599, doi. 10.5271/sjweh.3912
By:
- Spinder, Nynke;
- Bergman, Jorieke E. H.;
- Kromhout, Hans;
- Vermeulen, Roel;
- Corsten-Janssen, Nicole;
- Boezen, H. Marike;
- du Marchie Sarvaas, Gideon J.;
- de Walle, Hermien E. K.
Publication type:
Article
Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy.
Published in:
Prenatal Diagnosis, 2022, v. 42, n. 6, p. 762, doi. 10.1002/pd.6056
By:
- Plantinga, Mirjam;
- Zwienenberg, Lauren;
- van Dijk, Eva;
- Breet, Hanna;
- Diphoorn, Janouk;
- El Mecky, Julia;
- Bouman, Katelijne;
- Verheij, Joke;
- Birnie, Erwin;
- Ranchor, Adelita V.;
- Corsten‐Janssen, Nicole;
- van Langen, Irene M.
Publication type:
Article
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Published in:
Prenatal Diagnosis, 2020, v. 40, n. 10, p. 1300, doi. 10.1002/pd.5781
By:
- Corsten‐Janssen, Nicole;
- Bouman, Katelijne;
- Diphoorn, Janouk C. D.;
- Scheper, Arjen J.;
- Kinds, Rianne;
- Mecky, Julia;
- Breet, Hanna;
- Verheij, Joke B. G. M.;
- Suijkerbuijk, Ron;
- Duin, Leonie K.;
- Manten, Gwendolyn T. R.;
- Langen, Irene M.;
- Sijmons, Rolf H.;
- Sikkema‐Raddatz, Birgit;
- Westers, Helga;
- Diemen, Cleo C.
Publication type:
Article
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Published in:
2020
By:
- Deden, Chantal;
- Neveling, Kornelia;
- Zafeiropopoulou, Dimitra;
- Gilissen, Christian;
- Pfundt, Rolph;
- Rinne, Tuula;
- Leeuw, Nicole;
- Faas, Brigitte;
- Gardeitchik, Thatjana;
- Sallevelt, Suzanne C. E. H.;
- Paulussen, Aimee;
- Stevens, Servi J. C.;
- Sikkel, Esther;
- Elting, Mariet W.;
- Maarle, Merel C.;
- Diderich, Karin E. M.;
- Corsten‐Janssen, Nicole;
- Lichtenbelt, Klaske D.;
- Lachmeijer, Guus;
- Vissers, Lisenka E. L. M.
Publication type:
journal article
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.
Published in:
Human Mutation, 2018, v. 39, n. 12, p. 1875, doi. 10.1002/humu.23627
By:
- Granadillo, Jorge L.;
- Chung, Wendy K.;
- Hecht, Leah;
- Corsten‐Janssen, Nicole;
- Wegner, Daniel;
- Nij Bijvank, Sebastiaan W.A.;
- Toler, Tomi L.;
- Pineda‐Alvarez, Daniel E.;
- Douglas, Ganka;
- Murphy, Joshua J.;
- Shimony, Joshua;
- Shinawi, Marwan
Publication type:
Article

Found: 12