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Cover, Volume 42, Issue 2.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. i, doi. 10.1002/humu.24168
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- Publication type:
- Article
Cover, Volume 42, Issue 2.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. ii, doi. 10.1002/humu.24169
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- Publication type:
- Article
Issue Information.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. 117, doi. 10.1002/humu.24039
- Publication type:
- Article
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. 119, doi. 10.1002/humu.24148
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- Article
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. 135, doi. 10.1002/humu.24137
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- Publication type:
- Article
Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications.
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- Human Mutation, 2021, v. 42, n. 2, p. 142, doi. 10.1002/humu.24151
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- Publication type:
- Article
The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. 150, doi. 10.1002/humu.24133
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- Publication type:
- Article
New variants and in silico analyses in GRK1 associated Oguchi disease.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. 164, doi. 10.1002/humu.24140
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- Publication type:
- Article
Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. 177, doi. 10.1002/humu.24143
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- Publication type:
- Article
Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC–RPEs model.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. 189, doi. 10.1002/humu.24146
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- Publication type:
- Article
Epidemiological and ES cell‐based functional evaluation of BRCA2 variants identified in families with breast cancer.
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- Human Mutation, 2021, v. 42, n. 2, p. 200, doi. 10.1002/humu.24154
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- Publication type:
- Article
A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. 213, doi. 10.1002/humu.24145
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- Publication type:
- Article
The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiency.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. 216, doi. 10.1002/humu.24153
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- Publication type:
- Article
Rare coding variants in MAPK7 predispose to adolescent idiopathic scoliosis.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. 218, doi. 10.1002/humu.24155
- Publication type:
- Article
Erratum.
- Published in:
- 2021
- Publication type:
- Correction Notice