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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
Published in:
Nature Genetics, 2009, v. 41, n. 12, p. 1272, doi. 10.1038/ng.484
By:
- Alders, Marielle;
- Hogan, Benjamin M.;
- Gjini, Evisa;
- Salehi, Faranak;
- Al-Gazali, Lihadh;
- Hennekam, Eric A.;
- Holmberg, Eva E.;
- Mannens, Marcel M. A. M.;
- Mulder, Margot F.;
- Offerhaus, G. Johan A.;
- Prescott, Trine E.;
- Schroor, Eelco J.;
- Verheij, Joke B. G. M.;
- Witte, Merlijn;
- Zwijnenburg, Petra J.;
- Vikkula, Mikka;
- Schulte-Merker, Stefan;
- Hennekam, Raoul C.
Publication type:
Article
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.
Published in:
Scientific Reports, 2016, p. 28253, doi. 10.1038/srep28253
By:
- Buena-Atienza, Elena;
- Rüther, Klaus;
- Baumann, Britta;
- Bergholz, Richard;
- Birch, David;
- De Baere, Elfride;
- Dollfus, Helene;
- Greally, Marie T.;
- Gustavsson, Peter;
- Hamel, Christian P.;
- Heckenlively, John R.;
- Leroy, Bart P.;
- Plomp, Astrid S.;
- Pott, Jan Willem R.;
- Rose, Katherine;
- Rosenberg, Thomas;
- Stark, Zornitza;
- Verheij, Joke B. G. M.;
- Weleber, Richard;
- Zobor, Ditta
Publication type:
Article
Mutations in SCG10 Are Not Involved in Hirschsprung Disease.
Published in:
PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015144
By:
- Alves, Maria M. M.;
- Osinga, Jan;
- Verheij, Joke B. G. M.;
- Metzger, Marco;
- Eggen, Bart J. L.;
- Hofstra, Robert M. W.
Publication type:
Article
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 9, p. 917, doi. 10.1038/ejhg.2012.35
By:
- Jannot, Anne-Sophie;
- Amiel, Jeanne;
- Pelet, Anna;
- Lantieri, Francesca;
- Fernandez, Raquel M;
- Verheij, Joke B G M;
- Garcia-Barcelo, Merce;
- Arnold, Stacey;
- Ceccherini, Isabella;
- Borrego, Salud;
- Hofstra, Robert M W;
- Tam, Paul K H;
- Munnich, Arnold;
- Chakravarti, Aravinda;
- Clerget-Darpoux, Françoise;
- Lyonnet, Stanislas
Publication type:
Article
The clinical spectrum of complete FBN1 allele deletions.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 247, doi. 10.1038/ejhg.2010.174
By:
- Hilhorst-Hofstee, Yvonne;
- Hamel, Ben C. J.;
- Verheij, Joke B. G. M.;
- Rijlaarsdam, Marry E. B.;
- Mancini, Grazia M. S.;
- Cobben, Jan M.;
- Giroth, Cindy;
- Ruivenkamp, Claudia A. L.;
- Hansson, Kerstin B. M.;
- Timmermans, Janneke;
- Moll, Henriette A.;
- Breuning, Martijn H.;
- Pals, Gerard
Publication type:
Article
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1432, doi. 10.1038/ejhg.2009.72
By:
- van Silfhout, Anneke T.;
- van den Akker, Peter C.;
- Dijkhuizen, Trijnie;
- Verheij, Joke B. G. M.;
- Olderode-Berends, Maran J. W.;
- Kok, Klaas;
- Sikkema-Raddatz, Birgit;
- van Ravenswaaij-Arts, Conny M. A.
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
HEREDITARY CONGENITAL UNILATERAL DEAFNESS: A NEW DISORDER?
Published in:
Annals of Otology, Rhinology & Laryngology, 2005, v. 114, n. 4, p. 332, doi. 10.1177/000348940511400414
By:
- Dikkers, Frederik G.;
- Verheij, Joke B. G. M.;
- van Mechelen, Monique
Publication type:
Article
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 23, p. 5265, doi. 10.1093/hmg/ddw333
By:
- Sze-man Tang, Clara;
- Hongsheng Gui;
- Kapoor, Ashish;
- Jeong-Hyun Kim;
- Luzón-Toro, Berta;
- Pelet, Anna;
- Burzynski, Grzegorz;
- Lantieri, Francesca;
- Man-ting So;
- Berrios, Courtney;
- Hyoung Doo Shin;
- Fernandez, Raquel M.;
- Thuy-Linh Le;
- Verheij, Joke B. G. M.;
- Matera, Ivana;
- Cherny, Stacey S.;
- Nandakumar, Priyanka;
- Hyun Sub Cheong;
- Antiñolo, Guillermo;
- Amiel, Jeanne
Publication type:
Article
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 3, p. 571, doi. 10.1093/hmg/ddv497
By:
- Halim, Danny;
- Hofstra, Robert M. W.;
- Signorile, Luca;
- Verdijk, Rob M.;
- van der Werf, Christine S.;
- Sribudiani, Yunia;
- Brouwer, Rutger W. W.;
- van IJcken, Wilfred F. J.;
- Dahl, Niklas;
- Verheij, Joke B. G. M.;
- Baumann, Clarisse;
- Kerner, John;
- van Bever, Yolande;
- Galjart, Niels;
- Wijnen, Rene M. H.;
- Tibboel, Dick;
- Burns, Alan J.;
- Muller, Françoise;
- Brooks, Alice S.;
- Alves, Maria M.
Publication type:
Article
Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.
Published in:
Acta Ophthalmologica (1755375X), 2014, v. 92, n. 3, p. 276, doi. 10.1111/aos.12105
By:
- Wasmann, Rosemarie A.;
- Wassink‐Ruiter, Jolien S. Klein;
- Sundin, Olof H.;
- Morales, Elisa;
- Verheij, Joke B. G. M.;
- Pott, Jan Willem R.
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

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