207 results on '"Dadali, E."'
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2. Special clinical manifestations and genetic characteristics of schaaf–Yang syndrome in Russian patients
3. Clinical Genetic Characteristics of Epilepsy Due to Mutations in the PCDH19 Gene (OMIM: 300088)
4. Clinical and Genetic Characteristics of Noonan Syndrome and Noonan-like Diseases
5. HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients
6. Clinical Population Genetics of Hereditary Diseases among Children of the Karachay-Cherkess Republic
7. Molecular and Genetic Study of Limb-Girdle Muscular Dystrophy 2D in Patient Cohorts with Various Forms of Progressive Muscular Dystrophies
8. Differential diagnosis of juvenile idiopathic arthritis and multiple epiphyseal dysplasia: Experience of multidisciplinary interaction
9. Clinical and genetic characteristics of the first Russian patient with a syndrome of craniofacial dysmorphia-deafness-anomalies of the upper limbs, caused by a mutation in the PAX3 gene
10. Clinical and genetic characteristics of type 7 distal arthrogryposis caused by a pathogenic variant in the MYH8 gene
11. KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families
12. Diversity and Prevalence of Hereditary Diseases among Nogais of the Karachay-Cherkess Republic
13. Medical Genetic Study of Hereditary Diseases in Abazins of the Karachay-Cherkess Republic
14. Clinical and genetic characteristics and diagnostic features of Landouzy–Dejerine facioscapulohumeral muscular dystrophy
15. A new allelic variant of rigid spine syndrome
16. SMN1 gene point mutations in type I–IV proximal spinal muscular atrophy patients with a single copy of SMN1
17. Aymé–Gripp syndrome in a Russian patient with a newly detected mutation in the MAF gene
18. Diagnostic criteria for spinal muscular atrophy 5q
19. Clinical and genetic characteristics of distal arthrogryposis caused by mutations in the PIEZO2 gene
20. Multigene panel testing results in patients with dyslipidemia.
21. The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen’s and Becker’s myotonias
22. Heterozygous carrier rate for type I–IV proximal spinal muscular atrophy in Chuvashes, Udmurts, and residents of the Moscow region
23. Genetic epidemiological study of Bashkortostan Republic: The diversity of monogenic hereditary diseases in five districts
24. Genetic epidemiological study of Bashkortostan Republic: The effect of genetic structure of population on the load of monogenic hereditary diseases
25. Clinical genetic characteristics of metaphyseal chondrodysplasia, McKusick type (cartilage-hair hypoplasia) in children caused by mutations in the RMRP gene: authors’ observations and literature review
26. Clinical and genetic characteristics of type 3 lissencephaly caused by a mutation in the TUBA1A gene (OMIM: 611603)
27. Cardiomyopathy of Friedreich's Disease. Modern Methods of Diagnostic
28. Nozological Spectrum of Hereditary Diseases of the Nervous System in the Cities of Volgograd and Volzhsky
29. Genetic and Epidemiologic Analysis of Hereditary Diseases of the Nervous System in the Cities of Volgograd and Volzhsky
30. Hereditary Diseases of Nervous System in the Population of Vladimir Oblast
31. Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-Tooth disease in Russia: T202
32. CHARCOT-MARIE-TOOTH DISEASE TYPE I IN RUSSIA: T206
33. Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the NR2F1 gene
34. Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317)
35. POLR3A-related hypomyelinating leukodystrophy: case report and literature review
36. Сlinical and Radiological Characteristics of Two Patients with Acromesomelic Dysplasia Maroteaux Type with New Mutation in the NRP2 Gene
37. Clinical and genetic characteristics of Charcot–Marie–Tooth disease type 4D (type Lom) in Russia
38. Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation)
39. Clinical and genetic characteristics of X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene (OMIM:300958)
40. Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations
41. Clinical and genetic characteristics of epilepsy caused by mutations in the PCDH19 gene (OMIM: 300088)
42. HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients
43. Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients
44. VARIETY OF CLINICAL MANIFESTATIONS IN MUTATIONS IN THE DYNC1H1 GENE
45. Clinical and genetic characteristics of ponto-cerebellar hypoplasia caused by mutations in the TSEN54 gene (OMIM: 277470)
46. Gillespiе syndrome, caused by previously undescribed mutation in the gene ITPR1
47. 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
48. Clinical and genetic characteristics of new allele variants of the Mowat–Wilson syndrome caused by ZEB2 gene mutations
49. Spinal muscular atrophy with lower limbs phenotype: clinical and genetic description of novel mutation in the DYNC1H1 gene
50. Early epileptic encephalopathy associated with SCN2A mutations: clinical and genetic description of eight novel patients
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