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1.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Article
in English
| MEDLINE | ID: mdl-36477332
2.
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Genet Med
; 25(8): 100863, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37125634
3.
Stem-cell cardiospheres for myocardial regeneration: advancing cell therapy in myocardial infarction and heart failure.
J Physiol
; 596(17): 3839-3840, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29989168
4.
REEP5 depletion causes sarco-endoplasmic reticulum vacuolization and cardiac functional defects.
Nat Commun
; 11(1): 965, 2020 02 19.
Article
in English
| MEDLINE | ID: mdl-32075961
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