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Germline mutation in the STK11 gene in a girl with an ovarian Sertoli cell tumour.
Published in:
2007
By:
- Massa, Guy;
- Roggen, Nele;
- Renard, Marleen;
- Gille, Johan J. P.
Publication type:
journal article
Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer.
Published in:
Journal of Pathology, 2001, v. 195, n. 4, p. 451, doi. 10.1002/path.1000
By:
- Piek, Jurgen M. J.;
- van Diest, Paul J.;
- Zweemer, Ronald P.;
- Jansen, Jan W.;
- Poort-Keesom, Ria J. J.;
- Menko, Fred H.;
- Gille, Johan J. P.;
- Jongsma, Ans P. M.;
- Pals, Gerard;
- Kenemans, Peter;
- Verheijen, René H. M.
Publication type:
Article
Prevalence of medulloblastoma in basal cell nevus syndrome patients with a PTCH1 mutation.
Published in:
Neuro-Oncology, 2021, v. 23, n. 6, p. 1035, doi. 10.1093/neuonc/noab048
By:
- Verkouteren, Babette J A;
- Cosgun, Betül;
- Vermeulen, R Jeroen;
- Reinders, Marie G H C;
- Geel, Michel van;
- Gille, Johan J P;
- Mosterd, Klara
Publication type:
Article
Mechanism of hyperoxia-induced chromosomal breakage in chinese hamster cells.
Published in:
Environmental & Molecular Mutagenesis, 1993, v. 22, n. 4, p. 264, doi. 10.1002/em.2850220414
By:
- Gille, Johan J. P.;
- Van Berkel, Carola G. M.;
- Joenje, Hans
Publication type:
Article
Birt-Hogg-Dubé Syndrome: Clinical and Genetic Studies of 20 Families.
Published in:
Journal of Investigative Dermatology, 2008, v. 128, n. 1, p. 45, doi. 10.1038/sj.jid.5700959
By:
- Leter, Edward M.;
- Koopmans, A. Karijn;
- Gille, Johan J. P.;
- van Os, Theo A. M.;
- Vittoz, Gabriëlle G.;
- David, Eric F. L.;
- Jaspars, Elisabeth H.;
- Postmus, Pieter E.;
- van Moorselaar, R. Jeroen A.;
- Craanen, Mikael E.;
- Starink, Theo M.;
- Menko, Fred H.
Publication type:
Article
A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 360, doi. 10.1002/mgg3.293
By:
- Pilonetto, Daniela V.;
- Pereira, Noemi F.;
- Bonfim, Carmem M. S.;
- Ribeiro, Lisandro L.;
- Bitencourt, Marco A.;
- Kerkhoven, Lianne;
- Floor, Karijn;
- Ameziane, Najim;
- Joenje, Hans;
- Gille, Johan J. P.;
- Pasquini, Ricardo
Publication type:
Article
Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion.
Published in:
Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-024-02714-0
By:
- Correa-da-Silva, Felipe;
- Carter, Jenny;
- Wang, Xin-Yuan;
- Sun, Rui;
- Pathak, Ekta;
- Kuhn, José Manuel Monroy;
- Schriever, Sonja C.;
- Maya-Monteiro, Clarissa M.;
- Jiao, Han;
- Kalsbeek, Martin J.;
- Moraes-Vieira, Pedro M. M.;
- Gille, Johan J. P.;
- Sinnema, Margje;
- Stumpel, Constance T. R. M.;
- Curfs, Leopold M. G.;
- Stenvers, Dirk Jan;
- Pfluger, Paul T.;
- Lutter, Dominik;
- Pereira, Alberto M.;
- Kalsbeek, Andries
Publication type:
Article
Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay.
Published in:
Prenatal Diagnosis, 2007, v. 27, n. 1, p. 11, doi. 10.1002/pd.1608
By:
- Li, Ying;
- Page-Christiaens, Godelieve C. M. L.;
- Gille, Johan J. P.;
- Holzgreve, Wolfgang;
- Hahn, Sinuhe
Publication type:
Article
Recurrence and variability of germline EPCAM deletions in Lynch syndrome.
Published in:
Human Mutation, 2011, v. 32, n. 4, p. 407, doi. 10.1002/humu.21446
By:
- Kuiper, Roland P.;
- Vissers, Lisenka E. L. M.;
- Venkatachalam, Ramprasath;
- Bodmer, Danielle;
- Hoenselaar, Eveline;
- Goossens, Monique;
- Haufe, Aline;
- Kamping, Eveline;
- Niessen, Renée C.;
- Hogervorst, Frans B. L.;
- Gille, Johan J. P.;
- Redeker, Bert;
- Tops, Carli M. J.;
- van Gijn, Marielle E.;
- van den Ouweland, Ans M.W.;
- Rahner, Nils;
- Steinke, Verena;
- Kahl, Philip;
- Holinski-Feder, Elke;
- Morak, Monika
Publication type:
Article
Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing.
Published in:
Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/132856
By:
- Ameziane, Najim;
- Sie, Daoud;
- Dentro, Stefan;
- Ariyurek, Yavuz;
- Kerkhoven, Lianne;
- Joenje, Hans;
- Dorsman, Josephine C.;
- Ylstra, Bauke;
- Gille, Johan J. P.;
- Sistermans, Erik A.;
- De Winter, Johan P.
Publication type:
Article
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.
Published in:
Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/603253
By:
- Gille, Johan J. P.;
- Floor, Karijn;
- Kerkhoven, Lianne;
- Ameziane, Najim;
- Joenje, Hans;
- DeWinter, Johan P.
Publication type:
Article

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