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- 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
- 2010
-
Mark
22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment
(
- Contribution to journal › Article