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Nederlands Tijdschrift Voor Geneeskunde|May 23, 2013
[Rare syndromes are not hard to recognize]Martijn BreuningRevista De Derecho Y Genoma Humano = Law and the Human Genome Review|November 3, 2012
Which lessons can we learn from the European Union legal framework of medicines for the regulation of direct-to-consumer genetic tests?Rachèl van Hellemondt, Aart Hendriks, Martijn BreuningJournal of Child Neurology|October 14, 2020
Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the LiteratureMarieke Peetsold, Susan Goorden, Martijn Breuning, et al.American Journal of Medical Genetics. Part A|April 9, 2009
Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?Emmelien Aten, Nicolette den Hollander, Claudia Ruivenkamp, et al.Brain Pathology (Zurich, Switzerland)|May 12, 2007
Neuronal intranuclear and neuropil inclusions for pathological assessment of Huntington's diseaseMarion Maat-Schieman, Raymund Roos, Monique Losekoot, et al.Journal of the American Society of Nephrology : JASN|November 2, 2014
Scattered Deletion of PKD1 in Kidneys Causes a Cystic Snowball Effect and Recapitulates Polycystic Kidney DiseaseWouter N Leonhard, Malu Zandbergen, Kimberley Veraar, et al.European Journal of Human Genetics : EJHG|May 12, 2016
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTSJohannes G Dauwerse, Martine van Belzen, Arie van Haeringen, et al.The American Journal of Pathology|January 28, 2003
Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumorsYvonne Hendriks, Patrick Franken, Jan Willem Dierssen, et al.Journal of the American Society of Nephrology : JASN|October 24, 2008
Unified criteria for ultrasonographic diagnosis of ADPKDYork Pei, James Obaji, Annie Dupuis, et al.Human Molecular Genetics|August 21, 2018
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneitiesMarian A J Weterman, Molly Kuo, Susan B Kenter, et al.Pageof 2