Showing results 1 to 8 of 8
| Title | Author(s) | Issue Date | |
|---|---|---|---|
A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course
Journal:The American Journal of Medical Genetics - Part A | 29-Mar-2024 | ||
Clinical implications of mosaicism: A 10-year retrospective review of 83 families in a university-affiliated genetics clinic
Journal:Clinical Dysmorphology | 1-Jul-2022 | ||
Familial thrombotic microangiopathy in a child with coenzyme Q10 deficiency-associated glomerulopathy Journal:Pediatric Nephrology | 3-Sep-2024 | ||
Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis Journal:Frontiers in Genetics | 2022 | ||
| 5-Oct-2023 | |||
Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters Journal:BMJ Case Reports | 4-Mar-2024 | ||
| 2022 | |||
Whole genome sequencing in paediatric channelopathy and cardiomyopathy Journal:Frontiers in Cardiovascular Medicine | 20-Mar-2024 |