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Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood.
Published in:
1999
By:
- Verhoef, S.;
- van Diemen-Steenvoorde, R.;
- Akkersdijk, W. L.;
- Bax, N. M. A.;
- Ariyurek, Y.;
- Hermans, C. J.;
- van Nieuwenhuizen, O.;
- Nikkels, P. G. J.;
- Lindhout, D.;
- Halley, D. J. J.;
- Lips, K.;
- van den Ouweland, A. M. W.;
- Bax, N M;
- Nikkels, P G;
- Halley, D J;
- van den Ouweland, A M
Publication type:
journal article
Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.
Published in:
1994
By:
- van den Ouweland, Johannes M. W.;
- Lemkes, Herman H. P. J.;
- Trembath, Richard C.;
- Ross, Richard;
- Velho, Gilberto;
- Cohen, Daniel;
- Froguel, Philippe;
- Maassen, J. Antonie;
- van den Ouweland, J M;
- Lemkes, H H;
- Trembath, R C;
- Ross, R;
- Velho, G;
- Cohen, D;
- Froguel, P;
- Maassen, J A
Publication type:
journal article
Diabetes-associated mitochondrial DNA mutation A3243G impairs cellular metabolic pathways necessary for beta cell function.
Published in:
Diabetologia, 2006, v. 49, n. 8, p. 1816, doi. 10.1007/s00125-006-0301-9
By:
- de Andrade, P. B. M.;
- Rubi, B.;
- Frigerio, F.;
- van den Ouweland, J. M. W.;
- Maassen, J. A.;
- Maechler, P.
Publication type:
Article
Diagnosis of alpha-1-antitrypsin deficiency in bleeding disorder-related neonatal death.
Published in:
2011
By:
- Kats-Ugurlu, Gursah;
- Hogeveen, Marije;
- Driessen, Ann;
- Van den Ouweland, Ans M. W.;
- De Kaa, Christina Hulsbergen-van;
- Hulsbergen-van de Kaa, Christina
Publication type:
journal article
Psychosocial impact of Von Hippel–Lindau disease: levels and sources of distress.
Published in:
Clinical Genetics, 2010, v. 77, n. 5, p. 483, doi. 10.1111/j.1399-0004.2010.01333.x
By:
- Lammens, C. R. M.;
- Bleiker, E. M. A.;
- Verhoef, S.;
- Hes, F. J.;
- Ausems, M. G. E. M.;
- Majoor-Krakauer, D.;
- Sijmons, R. H.;
- van der Luijt, R. B.;
- van den Ouweland, A. M. W.;
- Van Os, Tam;
- Hoogerbrugge, N.;
- García, E. B. Gómez;
- Dommering, C. J.;
- Gundy, C. M.;
- Aaronson, N. K.
Publication type:
Article
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.
Published in:
Clinical Genetics, 2007, v. 72, n. 2, p. 122, doi. 10.1111/j.1399-0004.2007.00827.x
By:
- Hes, F. J.;
- van der Luijt, R. B.;
- Janssen, A. L. W.;
- Zewald, R. A.;
- de Jong, G. J.;
- Lenders, J. W.;
- Links, T. P.;
- Luyten, G. P. M.;
- Sijmons, R. H.;
- Eussen, H. J.;
- Halley, D. J. J.;
- Lips, C. J. M.;
- Pearson, P. L.;
- van den Ouweland, A. M. W.;
- Majoor-Krakauer, D. F.
Publication type:
Article
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.
Published in:
2017
By:
- Tarailo-Graovac, Maja;
- Drögemöller, Britt I.;
- Wasserman, Wyeth W.;
- Ross, Colin J. D.;
- van den Ouweland, Ans M. W.;
- Darin, Niklas;
- Kollberg, Gittan;
- van Karnebeek, Clara D. M.;
- Blomqvist, Maria
Publication type:
journal article
Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).
Published in:
Breast Cancer Research & Treatment, 2018, v. 172, n. 2, p. 497, doi. 10.1007/s10549-018-4903-y
By:
- Tudini, Emma;
- Moghadasi, Setareh;
- Parsons, Michael T.;
- van der Kolk, Lizet;
- van den Ouweland, Ans M. W.;
- Niederacher, Dieter;
- Feliubadaló, Lídia;
- Wappenschmidt, Barbara;
- Spurdle, Amanda B.;
- Lazaro, Conxi
Publication type:
Article
Mucositis-associated bloodstream infections in adult haematology patients with fever during neutropenia: risk factors and the impact of mucositis severity.
Published in:
Supportive Care in Cancer, 2024, v. 32, n. 9, p. 1, doi. 10.1007/s00520-024-08776-w
By:
- de Jonge, Nick A.;
- Janssen, Jeroen J. W. M.;
- Ypma, Paula;
- Herbers, Alexandra H. E.;
- de Kreuk, Arne;
- Vasmel, Wies;
- van den Ouweland, Jody M. W.;
- Beeker, Aart;
- Visser, Otto;
- Zweegman, Sonja;
- Blijlevens, Nicole M. A.;
- van Agtmael, Michiel A.;
- Sikkens, Jonne J.
Publication type:
Article
Increased Elastin Degradation in Pseudoxanthoma Elasticum Is Associated with Peripheral Arterial Disease Independent of Calcification.
Published in:
Journal of Clinical Medicine, 2020, v. 9, n. 9, p. 2771, doi. 10.3390/jcm9092771
By:
- Bartstra, Jonas W.;
- Spiering, Wilko;
- van den Ouweland, Jody M. W.;
- Mali, Willem P. T. M.;
- Janssen, Rob;
- de Jong, Pim A.
Publication type:
Article
Low Vitamin K Status Is Associated with Increased Elastin Degradation in Chronic Obstructive Pulmonary Disease.
Published in:
Journal of Clinical Medicine, 2019, v. 8, n. 8, p. 1116, doi. 10.3390/jcm8081116
By:
- Piscaer, Ianthe;
- van den Ouweland, Jody M. W.;
- Vermeersch, Kristina;
- Reynaert, Niki L.;
- Franssen, Frits M. E.;
- Keene, Spencer;
- Wouters, Emiel F. M.;
- Janssens, Wim;
- Vermeer, Cees;
- Janssen, Rob
Publication type:
Article
Validation study of Axis-Shield carbohydrate-deficient transferrin (CDT) on ARCHITECT® chemistry analyzer.
Published in:
Clinical Chemistry & Laboratory Medicine, 2007, v. 45, n. 11, p. 1555, doi. 10.1515/CCLM.2007.319
By:
- Janssen, Marcel J. W.;
- De Gruyter, Heidi L. M.;
- Stappers, Peter M. G.;
- Velmans, Mathieu H.;
- van den Ouweland, Johannes M. W.;
- van Daal, Henny;
- Hampsink, Rene M.
Publication type:
Article
A novel mutation in FGFR2.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 123, doi. 10.1002/ajmg.a.36827
By:
- Goos, Jacqueline A. C.;
- van den Ouweland, Ans M. W.;
- Swagemakers, Sigrid M. A.;
- Verkerk, Annemieke J. M. H.;
- Hoogeboom, A. Jeannette M.;
- van Veelen, Marie‐Lise C.;
- Mathijssen, Irene M. J.;
- van der Spek, Peter J.
Publication type:
Article
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
Published in:
Nature Genetics, 2013, v. 45, n. 4, p. 392, doi. 10.1038/ng.2561
By:
- Garcia-Closas, Montserrat;
- Feigelson, Heather S;
- Kauppila, Saila;
- Knight, Julia A;
- Glendon, Gord;
- Mulligan, Anna Marie;
- Tollenaar, Robertus A E M;
- van den Ouweland, Ans M W;
- van Deurzen, Carolien H M;
- Lu, Wei;
- Gao, Yu-Tang;
- Cross, Simon S;
- Le Marchand, Loic;
- Cai, Qiuyin;
- Shah, Mitul;
- Dunning, Alison M;
- Miao, Hui;
- Chia, Kee Seng;
- Chan, Ching Wan;
- Hsiung, Chia-Ni
Publication type:
Article
Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue.
Published in:
Prenatal Diagnosis, 1998, v. 18, n. 7, p. 659, doi. 10.1002/(SICI)1097-0223(199807)18:7<659::AID-PD317>3.0.CO;2-K
By:
- Los, Frans J.;
- Van Opstal, Diane;
- Van Den Berg, Cardi;
- Braat, Armando P. G.;
- Verhoef, Senno;
- Wesby-Van Swaay, Eveline;
- Van Den Ouweland, Ans M. W.;
- Halley, Dicky J. J.
Publication type:
Article
Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy.
Published in:
Prenatal Diagnosis, 1998, v. 18, n. 1, p. 35, doi. 10.1002/(SICI)1097-0223(199801)18:1<35::AID-PD214>3.0.CO;2-L
By:
- Van Opstal, Diane;
- van den Berg, Cardi;
- Deelen, Wout H.;
- Brandenburg, Helen;
- Cohen-Overbeek, Titia E.;
- Halley, Dicky J. J.;
- van den Ouweland, Ans M. W.;
- In 't Veld, Peter A.;
- Los, Frans J.
Publication type:
Article
Prenatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: a case report of Pallister-Killian syndrome.
Published in:
1995
By:
- Los, F J;
- Van Opstal, D;
- Schol, M P;
- Gaillard, J L;
- Brandenburg, H;
- Van Den Ouweland, A M;
- in 't Veld, P A
Publication type:
journal article
Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister-killian syndrome.
Published in:
Prenatal Diagnosis, 1995, v. 15, n. 12, p. 1155, doi. 10.1002/pd.1970151212
By:
- Los, Frans J.;
- Van Opstal, Diane;
- Schol, Martin P.;
- Gaillard, Johannes L. J.;
- Brandenburg, Helen;
- Van Den Ouweland, Ans M. W.;
- In 'T Veld, Peter A.
Publication type:
Article
Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk.
Published in:
Scientific Reports, 2016, p. 30026, doi. 10.1038/srep30026
By:
- Liu, Jingjing;
- Prager-van der Smissen, Wendy J. C.;
- Schmidt, Marjanka K.;
- Collée, J. Margriet;
- Cornelissen, Sten;
- Lamping, Roy;
- Nieuwlaat, Anja;
- Foekens, John A.;
- Hooning, Maartje J.;
- Verhoef, Senno;
- van den Ouweland, Ans M. W.;
- Hogervorst, Frans B. L.;
- Martens, John W. M.;
- Hollestelle, Antoinette
Publication type:
Article
Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes.
Published in:
Psycho-Oncology, 2011, v. 20, n. 6, p. 631, doi. 10.1002/pon.1951
By:
- Lammens, C. R. M.;
- Bleiker, E. M. A.;
- Verhoef, S.;
- Ausems, M. G. E. M.;
- Majoor‐Krakauer, D.;
- Sijmons, R. H.;
- Hes, F. J.;
- Gómez‐García, E. B.;
- Van Os, T. A. M.;
- Spruijt, L.;
- van der Luijt, R. B.;
- van den Ouweland, A. M. W.;
- Ruijs, M. W. G.;
- Gundy, C.;
- Nagtegaal, T.;
- Aaronson, N. K.
Publication type:
Article
Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.
Published in:
Human Genetics, 2004, v. 115, n. 3, p. 200, doi. 10.1007/s00439-004-1151-5
By:
- Rannan-Eliya, Sahan V.;
- Taylor, Indira B.;
- de Heer, I. Marieke.;
- van den Ouweland, Ans M. W.;
- Wall, Steven A.;
- Wilkie, Andrew O. M.
Publication type:
Article
Vitamin K2 Supplementation in Hospitalised COVID-19 Patients: A Randomised Controlled Trial.
Published in:
Journal of Clinical Medicine, 2024, v. 13, n. 12, p. 3476, doi. 10.3390/jcm13123476
By:
- Visser, Margot P. J.;
- Dofferhoff, Anton S. M.;
- van den Ouweland, Jody M. W.;
- de Jong, Pim A.;
- Zanen, Pieter;
- van Daal, Henny;
- Theeuwen, Eline B.;
- Kramers, Cornelis;
- Janssen, Rob;
- Walk, Jona
Publication type:
Article
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Published in:
Cancers, 2019, v. 11, n. 8, p. 1114, doi. 10.3390/cancers11081114
By:
- Chau, Cindy;
- van Doorn, Remco;
- van Poppelen, Natasha M.;
- van der Stoep, Nienke;
- Mensenkamp, Arjen R.;
- Sijmons, Rolf H.;
- van Paassen, Barbara W.;
- van den Ouweland, Ans M. W.;
- Naus, Nicole C.;
- van der Hout, Annemieke H.;
- Potjer, Thomas P.;
- Bleeker, Fonnet E.;
- Wevers, Marijke R.;
- van Hest, Liselotte P.;
- Jongmans, Marjolijn C. J.;
- Marinkovic, Marina;
- Bleeker, Jaco C.;
- Jager, Martine J.;
- Luyten, Gregorius P. M.;
- Nielsen, Maartje
Publication type:
Article
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 8, p. 995, doi. 10.1038/ejhg.2013.273
By:
- van den Elzen, M E P;
- Twigg, S R F;
- Goos, J A C;
- Hoogeboom, A J M;
- van den Ouweland, A M W;
- Wilkie, A O M;
- Mathijssen, I M J
Publication type:
Article
Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 236, doi. 10.1038/ejhg.2011.152
By:
- van Lier, Margot G F;
- Korsse, Susanne E;
- Mathus-Vliegen, Elisabeth M H;
- Kuipers, Ernst J;
- van den Ouweland, Ans M W;
- Vanheusden, Kathleen;
- van Leerdam, Monique E;
- Wagner, Anja
Publication type:
Article
Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1009, doi. 10.1038/ejhg.2011.60
By:
- van Veghel-Plandsoen, Monique M.;
- Wouters, Cokkie H.;
- Kromosoeto, Joan N. R.;
- den Ridder-Klünnen, Mariska C.;
- Halley, Dicky J. J.;
- van den Ouweland, Ans M. W.
Publication type:
Article
Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 2, p. 157, doi. 10.1038/ejhg.2010.156
By:
- Van den Ouweland, Ans M. W.;
- Elfferich, Peter;
- Zonnenberg, Bernard A.;
- Arts, Willem F.;
- Kleefstra, Tjitske;
- Nellist, Mark D.;
- Millan, Jose M.;
- Withagen-Hermans, Caroline;
- Maat-Kievit, Anneke J. A.;
- Halley, Dicky J. J.
Publication type:
Article
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 1, p. 59, doi. 10.1038/sj.ejhg.5201276
By:
- Nellist, Mark;
- Sancak, Ozgur;
- Goedbloed, Miriam A.;
- Rohe, Christan;
- van Netten, Diana;
- Mayer, Karin;
- Tucker-Williams, Aimee;
- van den Ouweland, Ans M. W.;
- Halley, Dicky J. J.
Publication type:
Article
Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 11, p. 823, doi. 10.1038/sj.ejhg.5200728
By:
- Goedbloed, Miriam A;
- Nellist, Mark;
- Verhaaf, Brenda;
- Reuser, Arnold J J;
- Lindhout, Dick;
- Sunde, Lone;
- Verhoef, Senno;
- Halley, Dicky J J;
- van den Ouweland, Ans M W
Publication type:
Article
Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow–pancreas syndrome.
Published in:
European Journal of Human Genetics, 2000, v. 8, n. 3, p. 195, doi. 10.1038/sj.ejhg.5200444
By:
- van den Ouweland, J M W;
- de Klerk, J B C;
- van de Corput, M P;
- Dirks, R W;
- Raap, A K;
- Scholte, H R;
- Huijmans, J G M;
- 't Hart, L M;
- Bruining, G J;
- Maassen, J A
Publication type:
Article
The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects.
Published in:
European Journal of Endocrinology, 2015, v. 173, n. 5, p. 611, doi. 10.1530/EJE-15-0451
By:
- Donze, S. H.;
- Meijer, C. R.;
- Kant, S. G.;
- Zandwijken, G. R. J.;
- van der Hout, A. H.;
- van Spaendonk, R. M. L.;
- van den Ouweland, A. M. W.;
- Wit, J. M.;
- Losekoot, M;
- Oostdijk, W.
Publication type:
Article
Increased circulating desmosine and age-dependent elastinolysis in idiopathic pulmonary fibrosis.
Published in:
2018
By:
- de Brouwer, Bart;
- Drent, Marjolein;
- van den Ouweland, Jody M W;
- Wijnen, Petal A;
- van Moorsel, Coline H M;
- Bekers, Otto;
- Grutters, Jan C;
- White, Eric S;
- Janssen, Rob
Publication type:
Letter
α-Methyldopa Interference in Urinary Normetanephrine Measurement by LC-MS/MS?
Published in:
Journal of Applied Laboratory Medicine, 2016, p. 321, doi. 10.1373/jalm.2016.020925
By:
- van den Ouweland, Johannes M.;
- Mol, Marc;
- Tax, Leon;
- Beijers, Twan;
- van Daal, Henny
Publication type:
Article
HLA-DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrial DNA mutation in maternally inherited diabetes and deafness.
Published in:
Diabetic Medicine, 2000, v. 17, n. 12, p. 841, doi. 10.1046/j.1464-5491.2000.00379.x
By:
- van Essen, E. H. R.;
- Roep, B. O.;
- Hart, L. M. ′t;
- Jansen, J. J.;
- Van den Ouweland, J. M. W.;
- Lemkes, H. H. P. J.;
- Maassen, J. A.
Publication type:
Article
Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in Myoclonus Epilepsy and Ragged-Red Fibers (MERRF) syndrome by a multiplex Molecular Beacon based real-time fluorescence PCR.
Published in:
Nucleic Acids Research, 2001, v. 29, n. 3, p. e13, doi. 10.1093/nar/29.3.e13
By:
- Szuhai, Károly;
- Ouweland, Jody M. van den;
- Dirks, Roeland W.;
- Lemaître, Marc;
- Truffert, Jean-Christophe;
- Janssen, George M.;
- Tanke, Hans J.;
- Holme, Elisabeth;
- Maassen, J. Antonie;
- Raap, Anton K.
Publication type:
Article
The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.
Published in:
BMC Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12863-016-0346-9
By:
- Farkas, Katalin;
- Deák, Barbara Kocsis;
- Sánchez, Laura Cubells;
- Martínez, Ana Mercedes Victoria;
- Corell, Juan José Vilata;
- Botella, Alfredo Montoro;
- Benito, Goitzane Marcaida;
- López, Raquel Rodríguez;
- Vanecek, Tomas;
- Kazakov, Dmitry V.;
- Kromosoeto, Joan N. R.;
- van den Ouweland, Ans M. W.;
- Varga, János;
- Széll, Márta;
- Nagy, Nikoletta
Publication type:
Article
Fast Separation of 25-Hydroxyvitamin D3 from 3-Epi-25-Hydroxyvitamin D3 in Human Serum by Liquid Chromatography-Tandem Mass Spectrometry: Variable Prevalence of 3-Epi-25-Hydroxyvitamin D3 in Infants, Children, and Adults.
Published in:
Clinical Chemistry, 2011, v. 57, n. 11, p. 1618, doi. 10.1373/clinchem.2011.170282
By:
- van den Ouweland, Johannes M. W.;
- Beijers, Antonius M.;
- Daal, Henny van
Publication type:
Article
Reduced Vitamin K Status as a Potentially Modifiable Risk Factor of Severe Coronavirus Disease 2019.
Published in:
Clinical Infectious Diseases, 2021, v. 73, n. 11, p. e4039, doi. 10.1093/cid/ciaa1258
By:
- Dofferhoff, Anton S M;
- Piscaer, Ianthe;
- Schurgers, Leon J;
- Visser, Margot P J;
- Ouweland, Jody M W van den;
- Jong, Pim A de;
- Gosens, Reinoud;
- Hackeng, Tilman M;
- Daal, Henny van;
- Lux, Petra;
- Maassen, Cecile;
- Karssemeijer, Esther G A;
- Vermeer, Cees;
- Wouters, Emiel F M;
- Kistemaker, Loes E M;
- Walk, Jona;
- Janssen, Rob
Publication type:
Article
Genetic risk factors in infertile men with severe oligozoospermia and azoospermia.
Published in:
2002
By:
- Dohle, G. R.;
- Halley, D. J. J.;
- Van Hemel, J. O.;
- Van den Ouweland, A. M. W.;
- Pieters, M. H. E. C.;
- Weber, R. F. A.;
- Govaerts, L. C. P.;
- van den Ouwel, A M W
Publication type:
journal article
The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data.
Published in:
1999
By:
- Dohle, GR;
- Veeze, HJ;
- Overbeek, SE;
- van den Ouweland, AMW;
- Halley, DJJ;
- Weber, RFA;
- Niermeijer, MF;
- Dohle, G R;
- Veeze, H J;
- Overbeek, S E;
- van den Ouweland, A M;
- Halley, D J;
- Weber, R F;
- Niermeijer, M F
Publication type:
journal article
Determination of the parent of origin in nine cases of prenatally detected chromosome aberrations found after intracytoplasmic sperm injection.
Published in:
Human Reproduction, 1997, v. 12, n. 4, p. 682, doi. 10.1093/humrep/12.4.682
By:
- Van Opstal, D;
- Los, F J;
- Ramlakhan, S;
- Van Hemel, J O;
- Van Den Ouweland, A M;
- Brandenburg, H;
- Pieters, M H;
- Verhoeff, A;
- Vermeer, M C;
- Dhont, M;
- In't Veld, P A
Publication type:
Article
Circulating concentrations of vitamin D in relation to pancreatic cancer risk in European populations.
Published in:
International Journal of Cancer, 2018, v. 142, n. 6, p. 1189, doi. 10.1002/ijc.31146
By:
- van Duijnhoven, Fränzel J. B.;
- Jenab, Mazda;
- Hveem, Kristian;
- Siersema, Peter D.;
- Fedirko, Veronika;
- Duell, Eric J.;
- Kampman, Ellen;
- Halfweeg, Anouk;
- van Kranen, Henk J.;
- van den Ouweland, Jody M. W.;
- Weiderpass, Elisabete;
- Murphy, Neil;
- Langhammer, Arnulf;
- Ness‐Jensen, Eivind;
- Olsen, Anja;
- Tjønneland, Anne;
- Overvad, Kim;
- Cadeau, Claire;
- Kvaskoff, Marina;
- Boutron‐Ruault, Marie‐Christine
Publication type:
Article
Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex.
Published in:
PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0157396
By:
- Mühlebner, Angelika;
- van Scheppingen, Jackelien;
- Hulshof, Hanna M.;
- Scholl, Theresa;
- Iyer, Anand M.;
- Anink, Jasper J.;
- van den Ouweland, Ans M. W.;
- Nellist, Mark D.;
- Jansen, Floor E.;
- Spliet, Wim G. M.;
- Krsek, Pavel;
- Benova, Barbora;
- Zamecnik, Josef;
- Crino, Peter B.;
- Prayer, Daniela;
- Czech, Thomas;
- Wöhrer, Adelheid;
- Rahimi, Jasmin;
- Höftberger, Romana;
- Hainfellner, Johannes A.
Publication type:
Article
Flavor problems in the application of soy protein materials.
Published in:
Journal of the American Oil Chemists' Society (JAOCS), 1979, v. 56, n. 3Part2, p. 289, doi. 10.1007/BF02671475
By:
- Schutte, L.;
- Van den Ouweland, G. A. M.
Publication type:
Article
A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature.
Published in:
Familial Cancer, 2020, v. 19, n. 1, p. 15, doi. 10.1007/s10689-019-00146-4
By:
- Aydemirli, M. D.;
- van der Tuin, K.;
- Hes, F. J.;
- van den Ouweland, A. M. W.;
- van Wezel, T.;
- Kapiteijn, E.;
- Morreau, H.
Publication type:
Article
TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort.
Published in:
Familial Cancer, 2019, v. 18, n. 2, p. 273, doi. 10.1007/s10689-018-00118-0
By:
- Bakhuizen, J. J.;
- Hogervorst, F. B.;
- Velthuizen, M. E.;
- Ruijs, M. W.;
- van Engelen, K.;
- van Os, T. A.;
- Gille, J. J.;
- Collée, M.;
- van den Ouweland, A. M.;
- van Asperen, C. J.;
- Kets, C. M.;
- Mensenkamp, A. R.;
- Leter, E. M.;
- Blok, M. J.;
- de Jong, M. M.;
- Ausems, M. G.
Publication type:
Article
Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers.
Published in:
Familial Cancer, 2018, v. 17, n. 3, p. 361, doi. 10.1007/s10689-017-0039-1
By:
- Goverde, A.;
- Spaander, M. C. W.;
- Nieboer, D.;
- van den Ouweland, A. M. W.;
- Dinjens, W. N. M.;
- Dubbink, H. J.;
- Tops, C. J.;
- ten Broeke, S. W.;
- Bruno, M. J.;
- Hofstra, R. M. W.;
- Steyerberg, E. W.;
- Wagner, A.
Publication type:
Article
Genome-wide linkage scan in Dutch hereditary non-BRCA1/2 breast cancer families identifies 9q21-22 as a putative breast cancer susceptibility locus.
Published in:
Genes, Chromosomes & Cancer, 2008, v. 47, n. 11, p. 947, doi. 10.1002/gcc.20597
By:
- Oldenburg, Rogier A.;
- Kroeze-Jansema, Karin H. G.;
- Houwing-Duistermaat, Jeanine J.;
- Bayley, Jean-Pierre;
- Dambrot, Cheryl;
- van Asperen, Christi J.;
- van den Ouweland, Ans M. W.;
- Bakker, Bert;
- van Beers, Erik H.;
- Nederlof, Petra M.;
- Vasen, Hans;
- Hoogerbrugge, Nicoline;
- Cornelisse, Cees J.;
- Meijers-Heijboer, Hanne;
- Devilee, Peter
Publication type:
Article
Interlaboratory comparison of 25-hydroxyvitamin D assays: Vitamin D Standardization Program (VDSP) Intercomparison Study 2 — Part 1 liquid chromatography – tandem mass spectrometry (LC-MS/MS) assays — impact of 3-epi-25-hydroxyvitamin D3 on assay performance
Published in:
Analytical & Bioanalytical Chemistry, 2022, v. 414, n. 1, p. 333, doi. 10.1007/s00216-021-03576-1
By:
- Wise, Stephen A.;
- Camara, Johanna E.;
- Burdette, Carolyn Q.;
- Hahm, Grace;
- Nalin, Federica;
- Kuszak, Adam J.;
- Merkel, Joyce;
- Durazo-Arvizu, Ramón A.;
- Williams, Emma L.;
- Hoofnagle, Andrew N.;
- Ivison, Fiona;
- Fischer, Ralf;
- van den Ouweland, Jody M. W.;
- Ho, Chung S.;
- Law, Emmett W. K.;
- Simard, Jean-Nicolas;
- Gonthier, Renaud;
- Holmquist, Brett;
- Meadows, Sarah;
- Cox, Lorna
Publication type:
Article
Genetic analysis of von Hippel-Lindau disease.
Published in:
2010
By:
- Nordstrom-O'Brien, Morgan;
- van der Luijt, Rob B.;
- van Rooijen, Ellen;
- van den Ouweland, Ans M.;
- Majoor-Krakauer, Danielle F.;
- Lolkema, Martijn P.;
- van Brussel, Aram;
- Voest, Emile E.;
- Giles, Rachel H.
Publication type:
Other

Found: 60