Search filters

Authors whose works are in public domain in at least one jurisdiction

List of works by Marjan M Weiss

A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds

scientific article published on 08 June 2016

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant

scientific article published on 28 November 2018

Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories ⬇️

scientific article published on August 19, 2013

Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy

scientific article published on 24 May 2017

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

scientific article published on 15 October 2019

Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome ⬇️

scientific article published on July 18, 2012

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability

scientific article published on 01 March 2020

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

scientific article published on 15 May 2020

Quantitative assessment of gastric corpus atrophy in subjects using omeprazole: a randomized follow-up study ⬇️

scientific article published on October 1, 2001

Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity

scientific article

Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy ⬇️

scientific article published on October 1, 2010

Paulina is supported by:

About Paulina

Help