1 – 7 of 7
- show: 20
- |
- sort: year (new to old)
Close
Embed this list
<iframe src=" "
width=" "
height=" "
allowtransparency="true"
frameborder="0">
</iframe>
- 2022
-
Mark
Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation
(
- Contribution to journal › Article
- 2020
-
Mark
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
(
- Contribution to journal › Article
- 2018
-
Mark
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
(
- Contribution to journal › Article
- 2015
-
Mark
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
2015) In European Journal of Human Genetics(
- Contribution to journal › Article
- 2014
-
Mark
A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement
(
- Contribution to journal › Article
-
Mark
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
(
- Contribution to journal › Article
- 2001
-
Mark
Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
(
- Contribution to journal › Article