Found: 13
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Medical genetics and genomic medicine in Chile: opportunities for improvement.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 243, doi. 10.1002/mgg3.166
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- Article
It's complicated: criteria for policy decisions for the clinical integration of genome-scale sequencing for reproductive decision making.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 239, doi. 10.1002/mgg3.130
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- Article
Structural and functional influences of coagulation factor XIII subunit B heterozygous missense mutants.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 258, doi. 10.1002/mgg3.138
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- Article
SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 248, doi. 10.1002/mgg3.141
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- Article
Issue Information.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. i, doi. 10.1002/mgg3.102
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- Article
Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 272, doi. 10.1002/mgg3.140
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- Article
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 283, doi. 10.1002/mgg3.142
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- Article
Critical roles for WDR72 in calcium transport and matrix protein removal during enamel maturation.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 302, doi. 10.1002/mgg3.143
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- Article
Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 320, doi. 10.1002/mgg3.144
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- Publication type:
- Article
Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 354, doi. 10.1002/mgg3.147
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- Article
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 327, doi. 10.1002/mgg3.145
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- Article
Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 346, doi. 10.1002/mgg3.146
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- Publication type:
- Article
A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 363, doi. 10.1002/mgg3.148
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- Article