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You searched for: Author/Creator Sillence, David

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1. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. Issue 7 (12th May 2017)

2. Biallelic variants in DNA2 cause microcephalic primordial dwarfism. Issue 8 (23rd June 2019)

3. CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures. Issue 6 (4th November 2018)

4. Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?. Issue 1 (1st January 2000)

6. Nosology and classification of genetic skeletal disorders: 2015 revision. (23rd September 2015)

7. Nosology and classification of genetic skeletal disorders: 2019 revision. Issue 12 (21st October 2019)

8. Nosology of genetic skeletal disorders: 2023 revision. Issue 5 (13th February 2023)

9. Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications. Issue 9 (25th May 2019)

10. The effect of height, weight and head circumference on gross motor development in achondroplasia. Issue 2 (22nd January 2013)