| A Case of False Negative NIPT For Down Syndrome- Lessons Learned | 6,338 |
| Premature Moustache as Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene | 5,398 |
| Unexplained false negative results in non-invasive prenatal testing (NIPT): two cases involving trisomy 13 and 18 | 3,105 |
| Monosomy 21 seen in live born is unlikely to represent true monosomy 21. A case report and review of the literature | 1,747 |
| Bartsocas-Papas syndrome: Unusual Findings in the First Reported Egyptian Family | 1,707 |
| Intrauterine growth retardation fetus with trisomy 16 mosaicism | 1,614 |
| A Case of Acute Myeloid Leukemia with a Previously Unreported Translocation (14; 15) (q32; q13) | 1,610 |
| Werner´s syndrome: Understanding the phenotype of premature aging. First case described in Colombia | 1,457 |
| Child with Deletion 9p Syndrome Presenting with Cranio-facial Dysmorphism, Developmental Delay and Multiple Congenital Malformations | 1,360 |
| A case of Premature Ovarian Failure in a 33 y.o. woman | 1,178 |
