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- 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. (
- 2010
- 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment (