| 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 2, No 3 (2012) |
CLINICAL DISCUSSION |
Случай диагностики проксимальной спинальной амиотрофии с врожденными переломами |
(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 2 (2016) |
CLINICAL DISCUSSION |
New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2 |
(Rus)
|
| Vol 7, No 3 (2017) |
ORIGINAL REPORTS |
Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients |
(Rus)
|
| Vol 8, No 1 (2018) |
ORIGINAL REPORTS |
Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation |
(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 11, No 3 (2021) |
ORIGINAL REPORTS |
Diagnostic criteria for spinal muscular atrophy 5q |
(Rus)
|
| Vol 13, No 1 (2023) |
ORIGINAL REPORTS |
Clinical and genetic characteristics and an algorithm for the differential diagnosis of progressive muscular dystrophies that manifest after a period of normal motor development |
(Rus)
|
| Vol 13, No 2 (2023) |
ORIGINAL REPORTS |
Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series |
(Rus)
|
| Vol 13, No 3 (2023) |
CLINICAL DISCUSSION |
Clinical and genetic characteristics of type 7 distal arthrogryposis caused by a pathogenic variant in the MYH8 gene |
(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)
|
