| Issue |
Section |
Title |
File |
| Vol 3, No 2 (2013) |
ORIGINAL REPORTS |
Comparative analysis of features phenotype limb-girdle muscular dystrophy 2А and 2I types |
(Rus)
|
| Vol 5, No 3 (2015) |
ORIGINAL REPORTS |
Comparative analysis of phenotypes features in two common genetic variants of limb-girdle muscular dystrophy |
(Rus)
(Eng)
|
| Vol 6, No 1 (2016) |
CLINICAL DISCUSSION |
Miyoshi myopathy: diagnosis of a familial case of dysferlinopathy |
(Rus)
|
| Vol 9, No 1 (2019) |
CLINICAL DISCUSSION |
Clinical and genetic characteristics of the syndrome of contractures of the limbs and face, hypothony and psychomotor retardation (OMIM: 616 266), caused by mutations in the NALCN gene |
(Rus)
|
| Vol 9, No 3 (2019) |
CLINICAL DISCUSSION |
Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients |
(Rus)
|
| Vol 10, No 1 (2020) |
LECTURES AND REVIEWS |
Clinical and genetic characteristics of congenital muscular dystrophies (Part 1) |
(Rus)
|
| Vol 10, No 2 (2020) |
LECTURES AND REVIEWS |
Clinical and genetic characteristics of congenital muscular dystrophies (part 2) |
(Rus)
|
| Vol 10, No 4 (2020) |
ORIGINAL REPORTS |
Diagnostic utility of exome sequencing for inherited peripheral neuropathies |
(Rus)
|
| Vol 11, No 3 (2021) |
CLINICAL DISCUSSION |
Aymé–Gripp syndrome in a Russian patient with a newly detected mutation in the MAF gene |
(Rus)
|
| Vol 11, No 4 (2021) |
CLINICAL DISCUSSION |
POLR3A-related hypomyelinating leukodystrophy: case report and literature review |
(Rus)
|
| Vol 13, No 1 (2023) |
ORIGINAL REPORTS |
Change in the spectrum of detected mutations in the DMD gene depending on the methodological capabilities of the laboratory |
(Rus)
|
| Vol 13, No 2 (2023) |
ORIGINAL REPORTS |
Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series |
(Rus)
|
| Vol 14, No 1 (2024) |
ORIGINAL REPORTS |
Special clinical manifestations and genetic characteristics of schaaf–Yang syndrome in Russian patients |
(Rus)
|
| Vol 14, No 2 (2024) |
ORIGINAL REPORTS |
Expanding the spectrum of clinical and genetic characteristics of distal arthrogryposis type 5 caused by heterozygous variants in the PIEZO2 gene |
(Rus)
(Eng)
|
| Vol 14, No 3 (2024) |
ORIGINAL REPORTS |
Possibility of exon skipping therapy for Duchenne muscular dystrophy in Russian patients: present and future |
(Rus)
|
