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genotype-phenotype
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Clayton-Smith, J.
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Bongers, E.M.H.F.
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Hagen, J.M. van
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Terhal, P.A.
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RPGR-associated dystrophies
A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis