O44: OMIM Phenotypic and molecular series: Windows into genetic heterogeneity and molecular etiology
Saved in:
| Main Authors: | Joanna Amberger, François Schiettecatte, Ada Hamosh |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
|
| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425003930 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Clinical and genetic characteristics of ponto-cerebellar hypoplasia caused by mutations in the TSEN54 gene (OMIM: 277470)
by: E. I. Dadali, et al.
Published: (2019-07-01) -
Clinical and genetic characteristics of type 3 lissencephaly caused by a mutation in the TUBA1A gene (OMIM: 611603)
by: D. M. Guseva, et al.
Published: (2021-04-01) -
P341: A comprehensive analysis of variations in sexual characteristics across OMIM
by: Leah Ragno, et al.
Published: (2025-01-01) -
Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes
by: Katja Neuhoff, et al.
Published: (2024-11-01) -
Genetic Etiologies for Phenotypic Diversity in Sickle Cell Anemia
by: Martin H. Steinberg
Published: (2009-01-01)