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(1 - 3 of 3)
Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations
Fergelot, P.; Belzen, M. van; Gils, J. van; Afenjar, A.; Armour, C.M.; Arveiler, B.; ... ; Hennekam, R.C. 2016
Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations
Article / Letter to editor
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The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific
Raule, N.; Sevini, F.; Li, S.T.; Barbieri, A.; Tallaro, F.; Lomartire, L.; ... ; Franceschi, C. 2014
The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific
Article / Letter to editor
metadata only
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
Nikkel, S.M.; Dauber, A.; Munnik, S. de; Connolly, M.; Hood, R.L.; Caluseriu, O.; ... ; FORGE Canada Consortium 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
Article / Letter to editor
metadata only