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1.
The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.
J Lipid Res
; 64(12): 100464, 2023 12.
Article
in English
| MEDLINE | ID: mdl-37890668
2.
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.
Brain
; 144(9): 2722-2731, 2021 10 22.
Article
in English
| MEDLINE | ID: mdl-34581780
3.
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.
Hum Mutat
; 40(8): 1101-1114, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30924982
4.
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
Clin Genet
; 96(6): 549-559, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31568572
5.
DPF2-related Coffin-Siris syndrome type 7 in two generations.
Eur J Med Genet
; 69: 104945, 2024 Apr 30.
Article
in English
| MEDLINE | ID: mdl-38697389
6.
New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.
J Clin Med
; 9(7)2020 Jul 09.
Article
in English
| MEDLINE | ID: mdl-32659924
7.
A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy.
Neuromuscul Disord
; 28(8): 671-674, 2018 08.
Article
in English
| MEDLINE | ID: mdl-30017359
8.
Novel Mutation in LOX Associates With a Complex Aneurysmal Vascular and Cardiac Phenotype.
Circ Genom Precis Med
; 14(1): e003217, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33517666
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