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Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD).
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6601, doi. 10.3390/ijms24076601
By:
- Krzyzewska, Izabela M.;
- Lauffer, Peter;
- Mul, Adri N.;
- van der Laan, Liselot;
- Yim, Andrew Y. F. Li;
- Cobben, Jan Maarten;
- Niklinski, Jacek;
- Chomczyk, Monika A.;
- Smigiel, Robert;
- Mannens, Marcel M. A. M.;
- Henneman, Peter
Publication type:
Article
Trisomy 4 mosaicism: Delineation of the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1040, doi. 10.1002/ajmg.a.37522
By:
- Bouman, Arjan;
- van der Kevie‐Kersemaekers, Anne‐Marie;
- Huijsdens‐van Amsterdam, Karin;
- Dahhan, Nordin;
- Knegt, Lia;
- Vansenne, Fleur;
- Cobben, Jan Maarten
Publication type:
Article
Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 504, doi. 10.1002/ajmg.a.37451
By:
- Bouman, Arjan;
- Knegt, Lia;
- Gröschel, Stefan;
- Erpelinck, Claudia;
- Sanders, Mathijs;
- Delwel, Ruud;
- Kuijpers, Taco;
- Cobben, Jan Maarten
Publication type:
Article
Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 510, doi. 10.1002/ajmg.a.37453
By:
- van Koningsbruggen, Silvana;
- Knoester, Hennie;
- Bakx, Roel;
- Mook, Olaf;
- Knegt, Lia;
- Cobben, Jan Maarten
Publication type:
Article
Etiology and pathogenesis of robin sequence in a large Dutch cohort.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 1983, doi. 10.1002/ajmg.a.37154
By:
- Basart, Hanneke;
- Paes, Emma C.;
- Maas, Saskia M.;
- van den Boogaard, Marie‐Jose H.;
- van Hagen, Johanna M.;
- Breugem, Corstiaan C.;
- Cobben, Jan Maarten;
- Don Griot, J. Peter W.;
- Lachmeijer, Augusta M. A.;
- Lichtenbelt, Klaske D.;
- van Nunen, Daan P. F.;
- van der Horst, Chantal M.;
- Hennekam, Raoul C.
Publication type:
Article
Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 254, doi. 10.1002/ajmg.a.35672
By:
- Abdelmalik, Nadia;
- van Haelst, Mieke;
- Mancini, Grazia;
- Schrander‐Stumpel, Connie;
- Marcus‐Soekarman, Dominique;
- Hennekam, Raoul;
- Cobben, Jan Maarten
Publication type:
Article
CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.
Published in:
2017
By:
- van der Tuin, Karin;
- Tops, Carli M J;
- Adank, Muriel A;
- Cobben, Jan-Maarten;
- Hamdy, Neveen A T;
- Jongmans, Marjolijn C;
- Menko, Fred H;
- van Nesselrooij, Bernadette P M;
- Netea-Maier, Romana T;
- Oosterwijk, Jan C;
- Valk, Gerlof D;
- Wolffenbuttel, Bruce H R;
- Hes, Frederik J;
- Morreau, Hans
Publication type:
journal article
Opposite effects on facial morphology due to gene dosage sensitivity.
Published in:
Human Genetics, 2014, v. 133, n. 9, p. 1117, doi. 10.1007/s00439-014-1455-z
By:
- Hammond, Peter;
- McKee, Shane;
- Suttie, Michael;
- Allanson, Judith;
- Cobben, Jan-Maarten;
- Maas, Saskia;
- Quarrell, Oliver;
- Smith, Ann;
- Lewis, Suzanne;
- Tassabehji, May;
- Sisodiya, Sanjay;
- Mattina, Teresa;
- Hennekam, Raoul
Publication type:
Article
Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1, doi. 10.1038/ejhg.2015.90
By:
- Rudnik-Schöneborn, Sabine;
- Eggermann, Thomas;
- Kress, Wolfram;
- Lemmink, Henny H;
- Cobben, Jan-Maarten;
- Zerres, Klaus
Publication type:
Article
Clinical utility gene card for: proximal spinal muscular atrophy.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 6, p. 1, doi. 10.1038/ejhg.2012.62
By:
- Rudnik-Schöneborn, Sabine;
- Eggermann, Thomas;
- Kress, Wolfram;
- Lemmink, Henny H;
- Cobben, Jan-Maarten;
- Zerres, Klaus
Publication type:
Article
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 5, p. 513, doi. 10.1038/ejhg.2010.234
By:
- Hastings, Rob;
- Cobben, Jan-Maarten;
- Gillessen-Kaesbach, Gabriele;
- Goodship, Judith;
- Hove, Hanne;
- Kjaergaard, Susanne;
- Kemp, Helena;
- Kingston, Helen;
- Lunt, Peter;
- Mansour, Sahar;
- McGowan, Ruth;
- Metcalfe, Kay;
- Murdoch-Davis, Catherine;
- Ray, Mary;
- Rio, Marlène;
- Smithson, Sarah;
- Tolmie, John;
- Turnpenny, Peter;
- van Bon, Bregje;
- Wieczorek, Dagmar
Publication type:
Article
Best practice guidelines for molecular analysis in spinal muscular atrophy.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 7, p. 484, doi. 10.1038/sj.ejhg.5200667
By:
- Scheffer, Hans;
- Cobben, Jan Maarten;
- Matthijs, Gert;
- Wirth, Brunhilde
Publication type:
Article
SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion.
Published in:
European Journal of Human Genetics, 2000, v. 8, n. 2, p. 79, doi. 10.1038/sj.ejhg.5200404
By:
- Scheffer, Hans;
- Cobben, Jan Maarten;
- Mensink, Rob GJ;
- Stulp, Rein P;
- van der Steege, Gerrit;
- Buys, Charles HCM
Publication type:
Article
Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance.
Published in:
Brain: A Journal of Neurology, 2007, v. 130, n. 9, p. 2258, doi. 10.1093/brain/awm188
By:
- Peter G. Barth;
- Charles B. Majoie;
- Matthan W.A. Caan;
- Marian A.J. Weterman;
- Marten Kyllerman;
- Leo M.E. Smit;
- Richard A. Kaplan;
- Richard H. Haas;
- Frank Baas;
- Jan-Maarten Cobben;
- Bwee Tien Poll-The
Publication type:
Article
Characterization of the Split Hand/Split Foot Malformation Locus SHFM1 at 7Q21.3–Q22.1 and Analysis of a Candidate Gene for Its Expression during Limb Development.
Published in:
Human Molecular Genetics, 1996, v. 5, n. 5, p. 571, doi. 10.1093/hmg/5.5.571
By:
- Crackower, Michael A.;
- Scherer, Stephen W.;
- Rommens, Johanna M.;
- Hui, Chi-Chung;
- Poorkaj, Parvoneh;
- Soder, Sylvia;
- Cobben, Jan Maarten;
- Hudgins, Louanne;
- Evans, James P.;
- Tsui, Lap-Chee
Publication type:
Article

Found: 15