Works matching IS 10597794 AND DT 2015 AND VI 36 AND IP 11
Results: 17
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1080, doi. 10.1002/humu.22834
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- Publication type:
- Article
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. E2441, doi. 10.1002/humu.22835
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- Publication type:
- Article
Purifying Selection of mtDNA and the Shape of Human Evolution.
- Published in:
- 2015
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- Publication type:
- Other
Neurofibromatosis Type 1 Without Neurofibromas: Genotype-Phenotype Correlations in NF1.
- Published in:
- 2015
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- Publication type:
- Other
Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1039, doi. 10.1002/humu.22846
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- Publication type:
- Article
Contents.
- Published in:
- 2015
- Publication type:
- Other
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. 11, p. 1112, doi. 10.1002/humu.22830
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- Publication type:
- Article
Complex Multiple-Nucleotide Substitution Mutations Causing Human Inherited Disease Reveal Novel Insights into the Action of Translesion Synthesis DNA Polymerases.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1034, doi. 10.1002/humu.22831
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- Publication type:
- Article
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1052, doi. 10.1002/humu.22832
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- Publication type:
- Article
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1070, doi. 10.1002/humu.22833
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- Publication type:
- Article
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1043, doi. 10.1002/humu.22853
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- Publication type:
- Article
Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1029, doi. 10.1002/humu.22827
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- Publication type:
- Article
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1021, doi. 10.1002/humu.22828
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- Publication type:
- Article
FAS Gene Copy Numbers are Associated with Susceptibility to Behçet Disease and VKH Syndrome in Han Chinese.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1064, doi. 10.1002/humu.22829
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- Publication type:
- Article
Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1088, doi. 10.1002/humu.22845
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- Publication type:
- Article
Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1048, doi. 10.1002/humu.22856
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- Publication type:
- Article
Fine Time Scaling of Purifying Selection on Human Nonsynonymous mtDNA Mutations Based on the Worldwide Population Tree and Mother-Child Pairs.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1100, doi. 10.1002/humu.22849
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- Publication type:
- Article