Detalhe da pesquisa
1.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961779
2.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Ann Neurol
; 2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37606373
3.
Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy.
Int J Mol Sci
; 24(12)2023 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37372933
4.
Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.
Int J Mol Sci
; 25(1)2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38203298
5.
Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant.
Int J Mol Sci
; 24(9)2023 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37175737
6.
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.
Int J Mol Sci
; 23(14)2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887114
7.
The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene.
Int J Mol Sci
; 23(20)2022 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292982
8.
Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report.
BMC Med Genet
; 21(Suppl 1): 197, 2020 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33092578
9.
Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.
Int J Mol Sci
; 21(1)2020 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31947737
10.
Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series.
Front Pediatr
; 12: 1280394, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38304750
11.
The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.
Genes (Basel)
; 15(2)2024 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38397171
12.
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
Nat Genet
; 36(6): 602-6, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15122254
13.
Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.
Genes (Basel)
; 14(8)2023 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628605
14.
Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL.
Genes (Basel)
; 14(9)2023 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761855
15.
Blood ACE Phenotyping for Personalized Medicine: Revelation of Patients with Conformationally Altered ACE.
Biomedicines
; 11(2)2023 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36831070
16.
The First Russian Patient with Native American Myopathy.
Genes (Basel)
; 13(2)2022 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205385
17.
Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.
Genes (Basel)
; 13(9)2022 08 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36140680
18.
Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.
Genes (Basel)
; 13(1)2022 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35052477
19.
Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.
Mol Genet Genomic Med
; 10(5): e1904, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35315254
20.
Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene.
Front Neurol
; 13: 1008937, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36425804