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1.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
PLoS Genet
; 13(3): e1006683, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28346496
2.
KIAA0586 is Mutated in Joubert Syndrome.
Hum Mutat
; 36(9): 831-5, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26096313
3.
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
Hum Mutat
; 34(8): 1160-71, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23649844
4.
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.
JIMD Rep
; 60(1): 23-31, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-34258138
5.
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
Front Neurol
; 9: 981, 2018.
Article
in English
| MEDLINE | ID: mdl-30564185
6.
Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study.
PLoS One
; 9(12): e114669, 2014.
Article
in English
| MEDLINE | ID: mdl-25479233
7.
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
Orphanet J Rare Dis
; 8: 173, 2013 Oct 28.
Article
in English
| MEDLINE | ID: mdl-24164873
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