Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.

Background: Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by a range of physical, cognitive, and behavioral abnormalities. This study aimed to perform a comprehensive review of the literature on CdLS and investigate two cases of CdLS with distinct phenotypes that underwent WES to aid in their diagnosis.

Methods: We conducted a comprehensive review of the literature on CdLS along with performing whole-exome sequencing on two CdLS patients with distinct phenotypes, followed by Sanger sequencing validation and in-silico analysis.

Women's self-care for Coronavirus prevention and the related factors in Iran: A cross-sectional study.

Promoting self-care can be an effective way to decrease the rate of transmission and expansion of the infection. However, there seem to be different related factors to self-care by gender. This study aims to assess women's self-care for COVID-19 prevention and some related factors in Tehran-Iran in 2021.

The self-care situation analysis of reproductive-aged women in Tehran: a survey study.

Background: Along with a global increase in the prevalence of infectious and non-communicable diseases, self-care with an emphasis on reproductive health Self-care has received special attention. Given the importance of women's health, assessment of their self-care status using a valid and reliable tool seems to be necessary to determine the needs for future women's reproductive health promotion interventions. The present study aimed to assess the women's self-care at reproductive age in Tehran, to determine women's health needs based on global guidelines for women's health.

A situation analysis on postmenopausal women's self-care needs and priorities in Tehran: a population-based study.

Background: Women need special care during and after menopause. Due to the emphasis of the World Health Organization on promoting self-care in postmenopausal women, this study aims to analyze the situation and prioritize the self-care needs of postmenopausal women in the Tehran-Iran.

Methods: This was a descriptive-analytical study on 486 postmenopausal women aged 46-85 years living in Tehran in 2021.