30 results on '"Dadali E"'
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2. Special clinical manifestations and genetic characteristics of schaaf–Yang syndrome in Russian patients
3. 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
4. Clinical and genetic characteristics of type 7 distal arthrogryposis caused by a pathogenic variant in the MYH8 gene
5. Aymé–Gripp syndrome in a Russian patient with a newly detected mutation in the MAF gene
6. Diagnostic criteria for spinal muscular atrophy 5q
7. Clinical and genetic characteristics of distal arthrogryposis caused by mutations in the PIEZO2 gene
8. Clinical and genetic characteristics of type 3 lissencephaly caused by a mutation in the TUBA1A gene (OMIM: 611603)
9. Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the NR2F1 gene
10. Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317)
11. POLR3A-related hypomyelinating leukodystrophy: case report and literature review
12. Clinical and genetic characteristics of Charcot–Marie–Tooth disease type 4D (type Lom) in Russia
13. Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation)
14. Clinical and genetic characteristics of X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene (OMIM:300958)
15. Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations
16. Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients
17. Clinical and genetic characteristics of ponto-cerebellar hypoplasia caused by mutations in the TSEN54 gene (OMIM: 277470)
18. Gillespiе syndrome, caused by previously undescribed mutation in the gene ITPR1
19. 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
20. Clinical and genetic characteristics of new allele variants of the Mowat–Wilson syndrome caused by ZEB2 gene mutations
21. Spinal muscular atrophy with lower limbs phenotype: clinical and genetic description of novel mutation in the DYNC1H1 gene
22. Early epileptic encephalopathy associated with SCN2A mutations: clinical and genetic description of eight novel patients
23. Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation
24. Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients
25. Clinical and genetic characteristics and diagnosis of hereditary variants of neonatal epilepsy
26. New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2
27. Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia
28. HEREDITARY DISEASES AND SYNDROMES ACCOMPANIED BY FEBRILE CONVULSIONS: CLINICAL AND GENETIC CHARACTERISTICS AND DIAGNOSTIC PROCEDURES
29. Comparative analysis of phenotypes features in two common genetic variants of limb-girdle muscular dystrophy
30. STIFF-PERSON SYNDROME WITH EARLY ONSET IN INFANCY
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