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The Journal of Clinical Endocrinology and Metabolism|November 23, 2017
Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 PatientsNitash Zwaveling-Soonawala, Marielle Alders, Aldo Jongejan, et al.European Journal of Medical Genetics|April 8, 2014
Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in bloodMariëlle Alders, Saskia M Maas, Daniël J M Kadouch, et al.American Journal of Medical Genetics. Part A|July 16, 2016
Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroupsSaskia M Maas, Fleur Vansenne, Daniel J M Kadouch, et al.European Journal of Human Genetics : EJHG|April 11, 2024
Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment optionsNiels Vos, Lotte Kleinendorst, Liselot van der Laan, et al.Prenatal Diagnosis|December 13, 2016
Polyhydramnios in isolated oral cleft pregnancies: incidence and outcome in a retrospective studyAnne L Depla, Corstiaan C Breugem, Chantal M A M van der Horst, et al.Human Genetics|June 4, 2014
Opposite effects on facial morphology due to gene dosage sensitivityPeter Hammond, Shane McKee, Michael Suttie, et al.Journal of Pediatric Gastroenterology and Nutrition|August 21, 2004
Regulatory regions in the rat lactase-phlorizin hydrolase gene that control cell-specific expressionMenno Verhave, Stephen D Krasinski, Sara I Christian, et al.The Journal of Clinical Endocrinology and Metabolism|November 12, 2010
The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosisSarina G Kant, Hetty J van der Kamp, Marjolein Kriek, et al.American Journal of Medical Genetics. Part A|July 13, 2021
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variantLynne Rumping, Marja W Wessels, Alex V Postma, et al.American Journal of Medical Genetics. Part A|April 4, 2025
Growth Charts for Children With Beckwith-Wiedemann SpectrumSaskia M Maas, Peter Lauffer, Guido Cocchi, et al.Pageof 6