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Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 5, p. 567, doi. 10.1038/ejhg.2010.233
By:
- Coenen, Marieke J. H.;
- Tieleman, Alide A.;
- Schijvenaars, Mascha M. V. A. P.;
- Leferink, Maike;
- Ranum, Laura P. W.;
- Scheffer, Hans;
- van Engelen, Baziel G. M.
Publication type:
Article
Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-44588-3
By:
- Leferink, Maike;
- Wong, Daphne P. W.;
- Cai, Shiwei;
- Yeo, Minli;
- Ho, Jocelin;
- Lian, Mulias;
- Kamsteeg, Erik-Jan;
- Chong, Samuel S.;
- Haer-Wigman, Lonneke;
- Guan, Ming
Publication type:
Article
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Published in:
Brain: A Journal of Neurology, 2010, v. 133, n. 3, p. 655, doi. 10.1093/brain/awp336
By:
- Leen, Wilhelmina G.;
- Klepper, Joerg;
- Verbeek, Marcel M.;
- Leferink, Maike;
- Hofste, Tom;
- van Engelen, Baziel G.;
- Wevers, Ron A.;
- Arthur, Todd;
- Bahi-Buisson, Nadia;
- Ballhausen, Diana;
- Bekhof, Jolita;
- van Bogaert, Patrick;
- Carrilho, Inês;
- Chabrol, Brigitte;
- Champion, Michael P.;
- Coldwell, James;
- Clayton, Peter;
- Donner, Elizabeth;
- Evangeliou, Athanasios;
- Ebinger, Friedrich
Publication type:
Article
Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses.
Published in:
Prenatal Diagnosis, 2024, v. 44, n. 11, p. 1304, doi. 10.1002/pd.6595
By:
- Smeekens, Sanne P.;
- Leferink, Maike.;
- Yntema, Helger G.;
- Kamsteeg, Erik‐Jan
Publication type:
Article

Found: 4

Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.

Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses.