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1.
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Brain
; 145(4): 1507-1518, 2022 05 24.
Article
in English
| MEDLINE | ID: mdl-34791078
2.
Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'.
J Neuromuscul Dis
; 8(3): 383-400, 2021.
Article
in English
| MEDLINE | ID: mdl-32773395
3.
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.
J Neurol
; 267(12): 3643-3649, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-32656641
4.
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.
Orphanet J Rare Dis
; 15(1): 206, 2020 08 12.
Article
in English
| MEDLINE | ID: mdl-32787960
5.
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.
Orphanet J Rare Dis
; 16(1): 145, 2021 Mar 22.
Article
in English
| MEDLINE | ID: mdl-33752678
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