Found: 19
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What Identity Crisis? Rapidly Mutating Y-STRs Facilitate Differentiation of Males.
- Published in:
- 2014
- By:
- Publication type:
- Other
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 983, doi. 10.1002/humu.22590
- By:
- Publication type:
- Article
Mutation Update for GNE Gene Variants Associated with GNE Myopathy.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 915, doi. 10.1002/humu.22583
- By:
- Publication type:
- Article
Deciphering the cis-Regulatory Landscape of SOX9 Implicated in Craniofacial Development and Isolated Pierre Robin Sequence.
- Published in:
- 2014
- By:
- Publication type:
- Other
Genetic Variations and Diseases in UniProtKB/Swiss-Prot: The Ins and Outs of Expert Manual Curation.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 927, doi. 10.1002/humu.22594
- By:
- Publication type:
- Article
Genetic Screening and Functional Characterization of PDGFRB Mutations Associated with Basal Ganglia Calcification of Unknown Etiology.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 964, doi. 10.1002/humu.22582
- By:
- Publication type:
- Article
Reducing False-Positive Incidental Findings with Ensemble Genotyping and Logistic Regression Based Variant Filtering Methods.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 936, doi. 10.1002/humu.22587
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- Publication type:
- Article
A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 959, doi. 10.1002/humu.22597
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- Publication type:
- Article
Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 998, doi. 10.1002/humu.22593
- By:
- Publication type:
- Article
Contents.
- Published in:
- 2014
- Publication type:
- Other
Majority Vote and Other Problems when using Computational Tools.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 912, doi. 10.1002/humu.22600
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- Publication type:
- Article
Structural Genomic Variation as Risk Factor for Idiopathic Recurrent Miscarriage.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 972, doi. 10.1002/humu.22589
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- Publication type:
- Article
A Novel ZRS Mutation Leads to Preaxial Polydactyly Type 2 in a Heterozygous Form and Werner Mesomelic Syndrome in a Homozygous Form.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 945, doi. 10.1002/humu.22581
- By:
- Publication type:
- Article
Mutations in ALDH1 A3 Represent a Frequent Cause of Microphthalmia/Anophthalmia in Consanguineous Families.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 949, doi. 10.1002/humu.22580
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- Publication type:
- Article
The Challenge for the Next Generation of Medical Geneticists.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 909, doi. 10.1002/humu.22592
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- Publication type:
- Article
A Novel in-Frame 18-bp Microdeletion in MT- CYB Causes a Multisystem Disorder with Prominent Exercise Intolerance.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 954, doi. 10.1002/humu.22596
- By:
- Publication type:
- Article
Genetic and Epigenetic Determinants of Low Dysferlin Expression in Monocytes.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 990, doi. 10.1002/humu.22591
- By:
- Publication type:
- Article
Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 1011, doi. 10.1002/humu.22606
- By:
- Publication type:
- Article
Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 1021, doi. 10.1002/humu.22599
- By:
- Publication type:
- Article