Works matching IS 00034800 AND DT 2021 AND VI 85 AND IP 5
Results: 7
An analysis of the demographic history of the risk allele R4810K in RNF213 of moyamoya disease.
- Published in:
- Annals of Human Genetics, 2021, v. 85, n. 5, p. 166, doi. 10.1111/ahg.12424
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- Article
An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
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- Annals of Human Genetics, 2021, v. 85, n. 5, p. 186, doi. 10.1111/ahg.12437
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- Article
Mutation spectrum of hereditary myopathies in Turkish patients and novel variants.
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- Annals of Human Genetics, 2021, v. 85, n. 5, p. 178, doi. 10.1111/ahg.12429
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- Article
Alopecia‐mental retardation syndrome: Molecular genetics of a rare neuro‐dermal disorder.
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- Annals of Human Genetics, 2021, v. 85, n. 5, p. 147, doi. 10.1111/ahg.12425
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- Article
Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients.
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- Annals of Human Genetics, 2021, v. 85, n. 5, p. 155, doi. 10.1111/ahg.12422
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- Article
Attitude toward personal genomics: A nation‐wide survey of public and professionals in Pakistan.
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- Annals of Human Genetics, 2021, v. 85, n. 5, p. 196, doi. 10.1111/ahg.12419
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- Article
Issue Information.
- Published in:
- Annals of Human Genetics, 2021, v. 85, n. 5, p. i, doi. 10.1111/ahg.12394
- Publication type:
- Article