Found: 13
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Issue Information.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 639, doi. 10.1002/humu.24043
- Publication type:
- Article
CNGB1‐related rod‐cone dystrophy: A mutation review and update.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 641, doi. 10.1002/humu.24205
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- Publication type:
- Article
Prediction of disease‐associated functional variants in noncoding regions through a comprehensive analysis by integrating datasets and features.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 667, doi. 10.1002/humu.24203
- By:
- Publication type:
- Article
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 685, doi. 10.1002/humu.24201
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- Publication type:
- Article
Lung‐specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 694, doi. 10.1002/humu.24198
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- Publication type:
- Article
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 699, doi. 10.1002/humu.24195
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- Publication type:
- Article
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 711, doi. 10.1002/humu.24199
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- Publication type:
- Article
von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 731, doi. 10.1002/humu.24204
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- Publication type:
- Article
Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 745, doi. 10.1002/humu.24210
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- Publication type:
- Article
Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 762, doi. 10.1002/humu.24206
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- Publication type:
- Article
KATK: Fast genotyping of rare variants directly from unmapped sequencing reads.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 777, doi. 10.1002/humu.24197
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- Publication type:
- Article
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 787, doi. 10.1002/humu.24200
- By:
- Publication type:
- Article
Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalence.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. e62, doi. 10.1002/humu.24196
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- Publication type:
- Article