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List of works by Ineke van der Burgt

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

scientific article (publication date: October 2002)

Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

scientific article published on 17 April 2017

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

scientific article published on 01 September 2019

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

scientific article published on 17 September 2018

External ear anomalies and hearing impairment in Noonan Syndrome

scientific article published on April 2015

First-year growth in children with Noonan syndrome: Associated with feeding problems?

scientific article published in April 2018

Germline KRAS mutations cause Noonan syndrome

scientific article

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

scientific article published in August 2016

Motor performance in children with Noonan syndrome.

scientific article published on 19 June 2017

Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients

scientific article published on 9 August 2016

Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients

scientific article published on 09 June 2018

Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives

scientific article published on 24 June 2016

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

article

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

scientific article

Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.

scientific article published on 8 September 2017

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