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Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 896, doi. 10.1002/ajmg.a.63086
By:
- Breet, Hanna;
- Vos, Yvonne J.;
- Dijkhuizen, Trijnie;
- Voorbij‐Vierstra, Carlijn L.;
- Bolling, Maria C.;
- van den Akker, Peter C.
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