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Correlation of PAPP-A values with maternal characteristics, biochemical and ultrasonographic markers of pregnancy
(Marmara Univ, Fac Medicine, 2021)
Objective: Our aim is to investigate whether there is a correlation of pregnancy-associated plasma protein A (PAPP-A) values with other variables in pregnancy and maternal characteristics. Materials and Methods: We ...
Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly
(Wiley, 2021)
Background: Phosphatase and tensin homolog (PTEN) germline mutations are associated with cancer syndromes (PTEN hamartoma tumor syndrome; PHTS) and in pediatric patients with autism spectrum disorder (ASD) and macrocephaly. ...
A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome
(Aves, 2022)
[No Abstract Available]
Mutation spectrum of congenital heart disease in a consanguineous Turkish population
(Wiley, 2022)
Backgrounds: While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts. Methods: We recruited 73 CHD probands ...
Clinical, demographic and genetic features of patients with congenital heart disease : A single center experience
(Marmara Univ, Fac Medicine, 2022)
Objective: We aimed to evaluate the demographic and clinical characteristics of children with congenital heart disease (CHD) in a private pediatric cardiovascular genetics clinic in Istanbul from January 2016 to July 2018 ...
Investigation of the lawsuits regarding Down syndrome
(Marmara Univ, Fac Medicine, 2022)
Objective: To examine the number of cases filed about Down syndrome in terms of its numbers, causes and consequences, to provide an overview of what doctors should pay attention to when informing and consulting patients ...
A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome
(2022)
[Abstract Not Available]