1. De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review
   Cristina Gug et al, 2020, Frontiers in Pediatrics CrossRef
2. Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES)
   Josefine Theresia Koenigbauer et al, 2023, Archives of Gynecology and Obstetrics CrossRef
3. A novel CHD7 variant in a chinese family with CHARGE syndrome
   Yanhong Shan et al, 2024, Genes & Genomics CrossRef
4. Síndrome CHARGE en recién nacido con rearreglo de los cromosomas 15 y Y. Reporte de caso
   null null et al, 2024, Iatreia CrossRef
5. Benefits of robotic devices in medical rehabilitation of a case with neurofibromatosis type1
   Felicia Liana ANDRONIE-CIOARA et al, 2020, Balneo Research Journal CrossRef
6. Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population
   Cristina Gug et al, 2022, Medicina CrossRef
7. Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism
   Tian Wang et al, 2024, Heliyon CrossRef
8. Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature
   Cristina Gug et al, 2020, Gene CrossRef
9. Discovery of Novel Variants on the CHD7 Gene: A Case Series of CHARGE Syndrome
   Xiangtao Wu et al, 2022, Frontiers in Genetics CrossRef
10. CHARGE syndrome, from occurrence to treatment
    Yalda Zhoulideh et al, 2023, Human Gene CrossRef
11. Arteria lusoria: a trick of nature
    Sarah S. Jakobsen et al, 2021, Scandinavian Journal of Gastroenterology CrossRef