1 – 6 of 6
- show: 10
- |
- sort: year (new to old)
Close
Embed this list
<iframe src=" "
width=" "
height=" "
allowtransparency="true"
frameborder="0">
</iframe>
- 2020
- Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome (
- 2018
- Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2 (
- 2015
- A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. (
- 2014
- A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement (
- Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease. (
- 2001
- Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity (