| A Case of False Negative NIPT For Down Syndrome- Lessons Learned | 4,880 |
| Premature Moustache as Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene | 4,223 |
| Unexplained false negative results in non-invasive prenatal testing (NIPT): two cases involving trisomy 13 and 18 | 2,439 |
| Monosomy 21 seen in live born is unlikely to represent true monosomy 21. A case report and review of the literature | 1,500 |
| A Case of Acute Myeloid Leukemia with a Previously Unreported Translocation (14; 15) (q32; q13) | 1,379 |
| Intrauterine growth retardation fetus with trisomy 16 mosaicism | 1,347 |
| Werner´s syndrome: Understanding the phenotype of premature aging. First case described in Colombia | 1,316 |
| Bartsocas-Papas syndrome: Unusual Findings in the First Reported Egyptian Family | 1,228 |
| Child with Deletion 9p Syndrome Presenting with Cranio-facial Dysmorphism, Developmental Delay and Multiple Congenital Malformations | 1,174 |
| Niemann-Pick disease: an underdiagnosed lysosomal storage disorder | 1,064 |
