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1.
A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.
IUBMB Life
; 71(12): 1937-1945, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31317616
2.
A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy.
Biochem Biophys Res Commun
; 459(3): 353-60, 2015 Apr 10.
Article
in English
| MEDLINE | ID: mdl-25701779
3.
Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis.
Acta Clin Belg
; 76(1): 16-24, 2021 Feb.
Article
in English
| MEDLINE | ID: mdl-31402777
4.
Association study of apoptosis gene polymorphisms in mitochondrial diabetes: A potential role in the pathogenicity of MD.
Gene
; 639: 18-26, 2018 Jan 10.
Article
in English
| MEDLINE | ID: mdl-28987347
5.
Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene.
Gene
; 671: 28-35, 2018 Sep 10.
Article
in English
| MEDLINE | ID: mdl-29860066
6.
Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241T>G mutation.
J Diabetes Complications
; 31(1): 253-259, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27422531
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