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Contents.
- Published in:
- 2015
- Publication type:
- Other
The SCN1A Mutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype.
- Published in:
- Human Mutation, 2015, v. 36, n. 6, p. 573, doi. 10.1002/humu.22782
- By:
- Publication type:
- Article
amamutdb.no: A Relational Database for MAN2B1 Allelic Variants that Compiles Genotypes, Clinical Phenotypes, and Biochemical and Structural Data of Mutant MAN2B1 in α-Mannosidosis.
- Published in:
- Human Mutation, 2015, v. 36, n. 6, p. 581, doi. 10.1002/humu.22787
- By:
- Publication type:
- Article
Novel, Compound Heterozygous, Single-Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss.
- Published in:
- Human Mutation, 2015, v. 36, n. 6, p. 587, doi. 10.1002/humu.22781
- By:
- Publication type:
- Article
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.
- Published in:
- Human Mutation, 2015, v. 36, n. 6, p. 593, doi. 10.1002/humu.22795
- By:
- Publication type:
- Article
Differential Dimerization of Variants Linked to Enhanced S-Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand-Binding Domain.
- Published in:
- Human Mutation, 2015, v. 36, n. 6, p. 599, doi. 10.1002/humu.22775
- By:
- Publication type:
- Article
Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients.
- Published in:
- Human Mutation, 2015, v. 36, n. 6, p. 611, doi. 10.1002/humu.22779
- By:
- Publication type:
- Article
Lynch Syndrome Associated with Two MLH1 Promoter Variants and Allelic Imbalance of MLH1 Expression.
- Published in:
- Human Mutation, 2015, v. 36, n. 6, p. 622, doi. 10.1002/humu.22785
- By:
- Publication type:
- Article
Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia.
- Published in:
- Human Mutation, 2015, v. 36, n. 6, p. 631, doi. 10.1002/humu.22786
- By:
- Publication type:
- Article
Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase.
- Published in:
- Human Mutation, 2015, v. 36, n. 6, p. 638, doi. 10.1002/humu.22791
- By:
- Publication type:
- Article
Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?
- Published in:
- Human Mutation, 2015, v. 36, n. 6, p. 648, doi. 10.1002/humu.22783
- By:
- Publication type:
- Article
Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A<sub>2</sub>γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse.
- Published in:
- Human Mutation, 2015, v. 36, n. 6, p. 656, doi. 10.1002/humu.22790
- By:
- Publication type:
- Article
Getting It Right with Lynch Syndrome Genetic and Phenotypic Diagnosis.
- Published in:
- 2015
- By:
- Publication type:
- Other
A Mitochondrial Translation Defect Identified by Whole-Exome Sequencing Expands the Phenotypic Spectrum for MARS2.
- Published in:
- 2015
- By:
- Publication type:
- Other