Works matching IS 13646745 AND DT 2023 AND VI 24 AND IP 2
Results: 7
A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.
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- Neurogenetics, 2023, v. 24, n. 2, p. 137, doi. 10.1007/s10048-023-00714-y
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- Article
Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients.
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- Neurogenetics, 2023, v. 24, n. 2, p. 129, doi. 10.1007/s10048-023-00713-z
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- Article
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.
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- Neurogenetics, 2023, v. 24, n. 2, p. 113, doi. 10.1007/s10048-023-00712-0
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- Article
Two patients with KDM3B variants and new presentations of Diets–Jongmans syndrome.
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- Neurogenetics, 2023, v. 24, n. 2, p. 95, doi. 10.1007/s10048-023-00711-1
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- Article
Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB.
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- Neurogenetics, 2023, v. 24, n. 2, p. 103, doi. 10.1007/s10048-023-00710-2
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- Article
INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms.
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- Neurogenetics, 2023, v. 24, n. 2, p. 79, doi. 10.1007/s10048-023-00709-9
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- Article
Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT.
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- Neurogenetics, 2023, v. 24, n. 2, p. 67, doi. 10.1007/s10048-022-00708-2
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- Article