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Factors influencing whether or not couples seek genetic counselling: an explorative study in a paediatric surgical unit.
Published in:
Clinical Genetics, 1995, v. 47, n. 1, p. 47, doi. 10.1111/j.1399-0004.1995.tb03921.x
By:
- Hobus, Inge;
- Frets, Petra G.;
- Duivenvoorden, Hugo J.;
- Tibboel, Dick;
- Niermeijer, Martinus F.
Publication type:
Article
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
Published in:
Nature Genetics, 2000, v. 24, n. 2, p. 153, doi. 10.1038/72807
By:
- Shackleton, Sue;
- Lloyd, David J.;
- Jackson, Stephen N.J.;
- Evans, Richard;
- Niermeijer, Martinus F.;
- Singh, Baldev M.;
- Schmidt, Hartmut;
- Brabant, Georg;
- Kumar, Sudesh;
- Durrington, Paul N.;
- Gregory, Simon;
- O'Rahilly, Stephen;
- Trembath, Richard C.
Publication type:
Article
Prenatal diagnosis of morquio's disease type a ( n-acetylgalactosamine 6-sulphate sulphatase deficiency).
Published in:
Prenatal Diagnosis, 1982, v. 2, n. 1, p. 67, doi. 10.1002/pd.1970020111
By:
- Von Figura, Kurt;
- Van De Kamp, J. J.;
- Niermeijer, Martinus F.
Publication type:
Article
Genotype Versus Phenotype in Families with Androgen Insensitivity Syndrome.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 9, p. 4151, doi. 10.1210/jcem.86.9.7825
By:
- BOEHMER, ANNEMIE L. M.;
- BRÜGGENWIRTH, HENNIE;
- VAN ASSENDELFT, CISSY;
- OTTEN, BARTO J.;
- VERLEUN-MOOIJMAN, MARJA C. T.;
- NIERMEIJER, MARTINUS F.;
- BRUNNER, HAN G.;
- ROUWÉ, CATRIENUS W.;
- WAELKENS, J. J.;
- OOSTDIJK, WILMA;
- KLEIJER, WIM J.;
- VAN DER KWAST, THEO H.;
- DE VROEDE, MONIQUE A.;
- DROP, STENVERT L. S.
Publication type:
Article
Phenotypic Variation in a Family with Partial Androgen Insensitivity Syndrome Explained by Differences in 5a Dihydrotestosterone Availability.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 3, p. 1240, doi. 10.1210/jcem.86.3.7333
By:
- BOEHMER, ANNEMIE L. M.;
- BRINKMANN, ALBERT O.;
- NIJMAN, RIEN M.;
- VERLEUN-MOOIJMAN, MARJA C. T.;
- DE RUITER, PETRA;
- NIERMEIJER, MARTINUS F.;
- DROP, STENVERT L. S.
Publication type:
Article
17β-Hydroxysteroid Dehydrogenase-3 Deficiency: Diagnosis, Phenotypic Variability, Population Genetics, and Worldwide Distribution of Ancient and de Novo Mutations.
Published in:
Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 12, p. 4713, doi. 10.1210/jc.84.12.4713
By:
- BOEHMER, ANNEMIE L. M.;
- BRINKMANN, ALBERT O.;
- SANDKUIJL, LODEWIJK A.;
- HALLEY, DICKY J. J.;
- NIERMEIJER, MARTINUS F.;
- ANDERSSON, STEFAN;
- DE JONG, FRANK H.;
- KAYSERILI, HÜLYA;
- DE VROEDE, MONIQUE A.;
- OTTEN, BARTO J.;
- ROUWÉ, CATRIENUS W.;
- MENDONÇA, BERENICE B.;
- RODRIGUES, CIDADE;
- BODE, HANS H.;
- DE RUITER, PETRA E.;
- DELEMARRE-VAN DE WAAL, HENRIETTE A.;
- DROP, STENVERT L. S.
Publication type:
Article
Complex compulsive behaviour in the temporal variant of frontotemporal dementia.
Published in:
Journal of Neurology, 2001, v. 248, n. 11, p. 965, doi. 10.1007/s004150170049
By:
- Rosso, Sonia M.;
- Roks, Gerwin;
- Stevens, Martijn;
- de Koning, Inge;
- Tanghe, Herve L. J.;
- Kamphorst, Wouter;
- Ravid, Rivka;
- Niermeijer, Martinus F.;
- van Swieten, John C.
Publication type:
Article
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.
Published in:
Human Genetics, 2008, v. 122, n. 6, p. 595, doi. 10.1007/s00439-007-0436-x
By:
- Wessels, Marja W.;
- Graaf, Bianca M.;
- Cohen-Overbeek, Titia E.;
- Spitaels, Silja E.;
- Groot-de Laat, Lotte E.;
- Ten Cate, Folkert J.;
- Frohn-Mulder, Ingrid F. M.;
- de Krijger, Ronald;
- Bartelings, Margot M.;
- Essed, Nienke;
- Wladimiroff, Jury W.;
- Niermeijer, Martinus F.;
- Heutink, Peter;
- Oostra, Ben A.;
- Dooijes, Dennis;
- Bertoli-Avella, Aida M.;
- Willems, Patrick J.
Publication type:
Article
Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 7, p. 492, doi. 10.1038/sj.ejhg.5200668
By:
- Lodder, Litanja;
- Frets, Petra G;
- Trijsburg, R Willem;
- Tibben, Aad;
- Meijers-Heijboer, E Johanna;
- Duivenvoorden, Hugo J;
- Wagner, Anja;
- van der Meer, Conny A;
- Devilee, Peter;
- Cornelisse, Cees J;
- Niermeijer, Martinus F
Publication type:
Article
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 4, p. 505, doi. 10.1038/sj.ejhg.5200315
By:
- Stone, Deborah L;
- Diggelen, Otto P van;
- Klerk, Johannis BC de;
- Gaillard, Johannes LJ;
- Niermeijer, Martinus F;
- Willemsen, Rob;
- Tayebi, Nahid;
- Sidransky, Ellen
Publication type:
Article
Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population‐based study.
Published in:
Brain: A Journal of Neurology, 2003, v. 126, n. 9, p. 2016, doi. 10.1093/brain/awg204
By:
- Sonia M. Rosso;
- Laura Donker Kaat;
- Timo Baks;
- Marijke Joosse;
- Inge de Koning;
- Yolande Pijnenburg;
- Daniëlle de Jong;
- Dennis Dooijes;
- Wouter Kamphorst;
- Rivka Ravid;
- Martinus F. Niermeijer;
- Frans Verheij;
- H. P. Kremer;
- Philip Scheltens;
- Cornelia M. van Duijn;
- Peter Heutink;
- John C. van Swieten
Publication type:
Article
Frontotemporal dementia (FTD) patients living at home and their spousal caregivers compared with institutionalized FTD patients and their spousal caregivers.
Published in:
Dementia (14713012), 2009, v. 8, n. 1, p. 61, doi. 10.1177/1471301208099045
By:
- RIEDIJK, SAMANTHA R.;
- DUIVENVOORDEN, HUGO J.;
- VAN OOSTROM, IRIS;
- ROSSO, SONIA M.;
- VAN SWIETEN, JOHN;
- NIERMEIJER, MARTINUS F.;
- TIBBEN, AAD
Publication type:
Article
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.
Published in:
2002
By:
- Rosso, Sonia M.;
- Van Herpen, Esther;
- Deelen, Wout;
- Kamphorst, Wouter;
- Severijnen, Lies-Anne;
- Willemsen, Rob;
- Ravid, Rivka;
- Niermeijer, Martinus F.;
- Dooijes, Dennis;
- Smith, Michael J.;
- Goedert, Michel;
- Heutink, Peter;
- Van Swieten, John C.
Publication type:
journal article
Genomic Sequencing in Newborn Screening Programs.
Published in:
2012
By:
- Dondorp, Wybo J.;
- de Wert, Guido M. W. R.;
- Niermeijer, Martinus F.;
- Greeley, Siri Atma W.;
- Msall, Michael E.;
- Acharya, Kruti;
- Goldenberg, Aaron J.;
- Sharp, Richard R.
Publication type:
Letter
Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1?
Published in:
Human Mutation, 1997, v. 9, n. 5, p. 458, doi. 10.1002/(SICI)1098-1004(1997)9:5<458::AID-HUMU13>3.0.CO;2-1
By:
- Cnossen, Marjon H.;
- van der Est, Mieke N.;
- Breuning, Martijn H.;
- van Asperen, Christi J.;
- Breslau-Siderius, Elisabeth J.;
- van der Ploeg, Ans T.;
- de Goede-Bolder, Arja;
- van den Ouweland, Ans M. W.;
- Halley, Dicky J. J.;
- Niermeijer, Martinus F.
Publication type:
Article
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.
Published in:
Human Molecular Genetics, 1994, v. 3, n. 1, p. 167
By:
- Wu, Yuan-Qing;
- Heutink, Peter;
- de Vries, Bert B. A.;
- Sandkuijl, Lodewijk A.;
- van den Ouweland, Ans M. W.;
- Niermeijer, Martinus F.;
- Galjaard, Hans;
- Reyniers, Edwin;
- Willems, Patrick J.;
- J. J.Halley, Dicky
Publication type:
Article
Reproductive planning after genetic counselling: a perspective from the last decade.
Published in:
Clinical Genetics, 1990, v. 38, n. 4, p. 295, doi. 10.1111/j.1399-0004.1990.tb03584.x
By:
- Frets, Petra G.;
- Niermeijer, Martinus F.
Publication type:
Article
Detection of Fabry's disease heterozy. gotes by enzyme analysis in single fibroblasts after cell sorting.
Published in:
Clinical Genetics, 1983, v. 23, n. 4, p. 261, doi. 10.1111/j.1399-0004.1983.tb01874.x
By:
- Jongkind, Johan F.;
- Verker, Anton;
- Niermeijer, Martinus F.
Publication type:
Article

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