Genotype–phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review.
- Published in:
- Neurogenetics, 2021, v. 22, n. 3, p. 187, doi. 10.1007/s10048-021-00646-5
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- Article
Works matching IS 13646745 AND DT 2021 AND VI 22 AND IP 3
Results: 8
1
2
Pitt–Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations.
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- Neurogenetics, 2021, v. 22, n. 3, p. 161, doi. 10.1007/s10048-021-00651-8
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- Article
3
Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.
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- Neurogenetics, 2021, v. 22, n. 3, p. 149, doi. 10.1007/s10048-021-00650-9
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- Article
4
More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly.
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- Neurogenetics, 2021, v. 22, n. 3, p. 221, doi. 10.1007/s10048-021-00648-3
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- Article
5
Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases.
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- Neurogenetics, 2021, v. 22, n. 3, p. 171, doi. 10.1007/s10048-021-00645-6
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- Publication type:
- Article
6
Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.
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- Neurogenetics, 2021, v. 22, n. 3, p. 195, doi. 10.1007/s10048-021-00653-6
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- Publication type:
- Article
7
Does genetic anticipation occur in familial Alexander disease?
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- Neurogenetics, 2021, v. 22, n. 3, p. 215, doi. 10.1007/s10048-021-00642-9
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- Publication type:
- Article
8
8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder.
- Published in:
- Neurogenetics, 2021, v. 22, n. 3, p. 207, doi. 10.1007/s10048-021-00635-8
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- Publication type:
- Article