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1.
Pacemaker Implantation in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)-A Long-Term Follow-Up Study.
Front Neurol
; 13: 846240, 2022.
Article
in English
| MEDLINE | ID: mdl-35356463
2.
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
Eur J Med Genet
; 64(9): 104280, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-34229113
3.
Discovery of a Potent Adenine-Benzyltriazolo-Pleuromutilin Conjugate with Pronounced Antibacterial Activity against MRSA.
J Med Chem
; 63(24): 15693-15708, 2020 12 24.
Article
in English
| MEDLINE | ID: mdl-33325700
4.
Novel TRPV4 variant causes a severe form of metatropic dysplasia.
Clin Case Rep
; 6(9): 1774-1778, 2018 Sep.
Article
in English
| MEDLINE | ID: mdl-30214761
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