OpenURL Connection Search

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

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
A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2152, doi. 10.1002/ajmg.a.61743
By:
- Aukema, Sietse M.;
- ten Brinke, Gerdien A.;
- Timens, Wim;
- Vos, Yvonne J.;
- Accord, Ryan E.;
- Kraft, Karianne E.;
- Santing, Michiel J.;
- Morssink, Leonard P.;
- Streefland, Esther;
- Diemen, Cleo C.;
- Vrijlandt, Elianne JLE;
- Hulzebos, Christian V.;
- Kerstjens‐Frederikse, Wilhelmina S.
Publication type:
Article
Two mismatch repair gene mutations found in a colon cancer patient – which one is pathogenic?
Published in:
Human Genetics, 2003, v. 112, n. 2, p. 105, doi. 10.1007/s00439-002-0866-4
By:
- Kariola, Reetta;
- Otway, Robyn;
- Lönnqvist, Karin E.;
- Raevaara, Tiina E.;
- Macrae, Finlay;
- Vos, Yvonne J.;
- Kohonen-Corish, Maija;
- Hofstra, Robert M.;
- Nyström-Lahti, Minna
Publication type:
Article
Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10649-4
By:
- Deelen, Patrick;
- van Dam, Sipko;
- Herkert, Johanna C.;
- Karjalainen, Juha M.;
- Brugge, Harm;
- Abbott, Kristin M.;
- van Diemen, Cleo C.;
- van der Zwaag, Paul A.;
- Gerkes, Erica H.;
- Zonneveld-Huijssoon, Evelien;
- Boer-Bergsma, Jelkje J.;
- Folkertsma, Pytrik;
- Gillett, Tessa;
- van der Velde, K. Joeri;
- Kanninga, Roan;
- van den Akker, Peter C.;
- Jan, Sabrina Z.;
- Hoorntje, Edgar T.;
- te Rijdt, Wouter P.;
- Vos, Yvonne J.
Publication type:
Article
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 6, p. 673, doi. 10.1038/sj.ejhg.5202012
By:
- van der Hout, Annemarie H;
- Oudesluijs, Grétel G.;
- Venema, Andrea;
- Verheij, Joke B. G. M.;
- Mol, Bart G. J.;
- Rump, Patrick;
- Brunner, Han G.;
- Vos, Yvonne J.;
- van Essen, Anthonie J.
Publication type:
Article
Unusual Course of Lafora Disease.
Published in:
Epilepsia Open, 2016, v. 1, n. 3/4, p. 136, doi. 10.1002/epi4.12009
By:
- Zutt, Rodi;
- Drost, Gea;
- Vos, Yvonne J.;
- Elting, Jan Willem;
- Miedema, Irene;
- Tijssen, Marina A. J.;
- Brouwer, Oebele F.;
- de Jong, Bauke M.
Publication type:
Article
Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy.
Published in:
Clinical Genetics, 2022, v. 102, n. 4, p. 350, doi. 10.1111/cge.14182
By:
- Leeuwen, Lisette;
- Lubout, Charlotte M. A.;
- Nijenhuis, Hessel P.;
- Meiners, Linda C.;
- Vos, Yvonne J.;
- Herkert, Johanna C.
Publication type:
Article
SNP association study in PMS2-associated Lynch syndrome.
Published in:
Familial Cancer, 2018, v. 17, n. 4, p. 507, doi. 10.1007/s10689-017-0061-3
By:
- ten Broeke, Sanne W.;
- Elsayed, Fadwa A.;
- Pagan, Lisa;
- Olderode-Berends, Maran J. W.;
- Garcia, Encarna Gomez;
- Gille, Hans J. P.;
- van Hest, Liselot P.;
- Letteboer, Tom G. W.;
- van der Kolk, Lizet E.;
- Mensenkamp, Arjen R.;
- van Os, Theo A.;
- Spruijt, Liesbeth;
- Redeker, Bert J. W.;
- Suerink, Manon;
- Vos, Yvonne J.;
- Wagner, Anja;
- Wijnen, Juul T.;
- Steyerberg, E. W.;
- Tops, Carli M. J.;
- van Wezel, Tom
Publication type:
Article
Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.824510
By:
- Alimohamed, Mohamed Z.;
- Westers, Helga;
- Vos, Yvonne J.;
- Van der Velde, K. Joeri;
- Sijmons, Rolf H.;
- Van der Zwaag, Paul A.;
- Sikkema-Raddatz, Birgit;
- Jongbloed, Jan D. H.
Publication type:
Article
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
Published in:
Human Mutation, 2016, v. 37, n. 11, p. 1162, doi. 10.1002/humu.23052
By:
- Klift, Heleen M.;
- Mensenkamp, Arjen R.;
- Drost, Mark;
- Bik, Elsa C.;
- Vos, Yvonne J.;
- Gille, Hans J.J.P.;
- Redeker, Bert E.J.W.;
- Tiersma, Yvonne;
- Zonneveld, José B.M.;
- García, Encarna Gómez;
- Letteboer, Tom G.W.;
- Olderode‐Berends, Maran J.W.;
- Hest, Liselotte P.;
- Os, Theo A.;
- Verhoef, Senno;
- Wagner, Anja;
- Asperen, Christi J.;
- ten Broeke, Sanne W.;
- Hes, Frederik J.;
- Wind, Niels
Publication type:
Article
An updated and upgraded L1CAM mutation database.
Published in:
2010
By:
- Vos, Yvonne J.;
- Hofstra, Robert M.W.
Publication type:
Other
Case series, chemotherapy-induced cardiomyopathy: mind the family history!
Published in:
European Heart Journal Case Reports, 2021, v. 5, n. 10, p. 1, doi. 10.1093/ehjcr/ytab333
By:
- Moghadasi, Setareh;
- Fijn, Rienke;
- Beeres, Saskia L M A;
- Bikker, Hennie;
- Jongbloed, Jan D H;
- Jitta, Djike Josephus;
- Kroep, Judith R;
- Deprez, Ronald H Lekanne;
- Vos, Yvonne J;
- Vreede, Mariëlle J M de;
- Antoni, M Louisa;
- Barge-Schaapveld, Daniela Q C M
Publication type:
Article

Found: 12