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. Benefits of robotic devices in medical rehabilitation of a case with neurofibromatosis type1
    Felicia Liana ANDRONIE-CIOARA et al, 2020, Balneo Research Journal CrossRef
  5. Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population
    Cristina Gug et al, 2022, Medicina CrossRef
  6. Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism
    Tian Wang et al, 2024, Heliyon CrossRef
  7. 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
  8. Discovery of Novel Variants on the CHD7 Gene: A Case Series of CHARGE Syndrome
    Xiangtao Wu et al, 2022, Frontiers in Genetics CrossRef
  9. CHARGE syndrome, from occurrence to treatment
    Yalda Zhoulideh et al, 2023, Human Gene CrossRef
  10. Arteria lusoria: a trick of nature
    Sarah S. Jakobsen et al, 2021, Scandinavian Journal of Gastroenterology CrossRef