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Prenatal Diagnosis|December 23, 2018
Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort studyJill K Tjon, Gita M Tan-Sindhunata, Marianna Bugiani, et al.European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology|February 5, 2023
Circulating tumor DNA detection after neoadjuvant treatment and surgery predicts recurrence in patients with early-stage and locally advanced rectal cancerLisa S M Hofste, Maartje J Geerlings, Daniel von Rhein, et al.American Journal of Obstetrics and Gynecology|December 14, 2023
Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant womenEllis C Becking, Peter G Scheffer, Jens Henrichs, et al.European Journal of Human Genetics : EJHG|December 25, 2014
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequenceM Brigita Tan-Sindhunata, Inge B Mathijssen, Margriet Smit, et al.Acta Neuropathologica Communications|December 6, 2014
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndromeArthur B McKie, Atif Alsaedi, Julie Vogt, et al.BMC Medical Genetics|April 17, 2009
The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patientsJean-Pierre Bayley, Anneliese E M Grimbergen, Patrick A van Bunderen, et al.Journal of Alzheimer'S Disease : JAD|December 3, 2016
Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 HomozygosityEva Louwersheimer, Petra E Cohn-Hokke, Yolande A L Pijnenburg, et al.Cancers|September 23, 2022
Circulating Tumor DNA-Based Disease Monitoring of Patients with Locally Advanced Esophageal CancerLisa S M Hofste, Maartje J Geerlings, Daniel von Rhein, et al.BMC Medical Genetics|June 15, 2010
Low penetrance of a SDHB mutation in a large Dutch paraganglioma familyFrederik J Hes, Marjan M Weiss, Sanne A Woortman, et al.Human Mutation|June 19, 2013
Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratoriesMarjan M Weiss, Bert Van der Zwaag, Jan D H Jongbloed, et al.Pageof 7