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List of works by Carlo L Marcelis

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

scientific article published on 18 October 2013

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

scientific article

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

scientific article published on 5 December 2017

Chromosomal anomalies in the etiology of anorectal malformations: A review ⬇️

scientific article published on October 11, 2011

Constructing “best interests”: Genetic testing of children in families with hypertrophic cardiomyopathy ⬇️

scientific article published on 07 July 2011

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

Cytoplasmic localization of PML particles in laminopathies ⬇️

scientific article published on August 25, 2012

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

scientific article published on 27 January 2016

Does food intolerance play a role in juvenile chronic arthritis? ⬇️

scientific article published on August 1, 1997

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice

scientific article

Neurodevelopmental protein Musashi 1 interacts with the Zika genome and promotes viral replication ⬇️

scientific article

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts ⬇️

scientific article published on March 28, 2012

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