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List of works by Anwar Baban

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome

scientific article published on 30 May 2019

Assessment of copy number variations in 120 patients with Poland syndrome.

scientific article

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

scientific article published on 23 May 2018

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

scientific article published on 01 September 2019

Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis

scientific article published on 15 November 2019

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect

scientific article published on 22 April 2020

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

scientific article published on 15 September 2018

KBG syndrome: Common and uncommon clinical features based on 31 new patients

scientific article published on 03 March 2020

LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant

scientific article published on 18 December 2018

Persistent myocardial atrophy despite LV reverse remodeling in Duchenne cardiomyopathy treated by LVAD

scientific article published on 26 October 2020

SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review

scientific article published on 01 August 2019

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3

scientific article published on 22 October 2019

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

article

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