OpenURL Connection Search

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

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1768
By:
- Duerinckx, Sarah;
- Désir, Julie;
- Perazzolo, Camille;
- Badoer, Cindy;
- Jacquemin, Valérie;
- Soblet, Julie;
- Maystadt, Isabelle;
- Tunca, Yusuf;
- Blaumeiser, Bettina;
- Ceulemans, Berten;
- Courtens, Winnie;
- Debray, François‐Guillaume;
- Destree, Anne;
- Devriendt, Koenraad;
- Jansen, Anna;
- Keymolen, Kathelijn;
- Lederer, Damien;
- Loeys, Bart;
- Meuwissen, Marije;
- Moortgat, Stéphanie
Publication type:
Article
TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions.
Published in:
European Journal of Human Genetics, 2006, v. 14, n. 10, p. 1090, doi. 10.1038/sj.ejhg.5201674
By:
- Rooms, Liesbeth;
- Reyniers, Edwin;
- Scheers, Stefaan;
- van Luijk, Rob;
- Wauters, Jan;
- Van Aerschot, Leen;
- Callaerts-Vegh, Zsuzsanna;
- D'Hooge, Rudi;
- Mengus, Gabrielle;
- Davidson, Irwin;
- Courtens, Winnie;
- Kooy, R. Frank
Publication type:
Article
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
Published in:
2018
By:
- Muys, Joke;
- Blaumeiser, Bettina;
- Jacquemyn, Yves;
- Bandelier, Claude;
- Brison, Nathalie;
- Bulk, Saskia;
- Chiarappa, Patrizia;
- Courtens, Winnie;
- De Leener, Anne;
- De Rademaeker, Marjan;
- Désir, Julie;
- Destrée, Anne;
- Devriendt, Koenraad;
- Dheedene, Annelies;
- Fieuw, Annelies;
- Fransen, Erik;
- Gatot, Jean‐Stéphane;
- Holmgren, Philip;
- Jamar, Mauricette;
- Janssens, Sandra
Publication type:
journal article
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 15, p. 1591, doi. 10.1093/hmg/10.15.1591
By:
- Baere, Elfride De;
- Dixon, Michael J.;
- Small, Kent W.;
- Jabs, Ethylin W.;
- Leroy, Bart P.;
- Devriendt, Koenraad;
- Gillerot, Yves;
- Mortier, Geert;
- Meire, Françoise;
- Maldergem, Lionel Van;
- Courtens, Winnie;
- Hjalgrim, Helle;
- Huang, Shangzhi;
- Liebaers, Inge;
- Regemorter, Nicole Van;
- Praphanphoj, Verayuth;
- Verloes, Alain;
- Udar, Nitin;
- Yellore, Vivek;
- Chalukya, Meenal
Publication type:
Article

Found: 4

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.

TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions.

The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation.