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1.
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Clin Genet
; 104(5): 554-563, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37580112
2.
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Clin Genet
; 99(5): 650-661, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33415748
3.
Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study.
Orphanet J Rare Dis
; 19(1): 180, 2024 Apr 30.
Article
in English
| MEDLINE | ID: mdl-38685042
4.
A new lamin a mutation associated with acrogeria syndrome.
J Invest Dermatol
; 134(8): 2274-2277, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24687084
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