Found: 8
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Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006242
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- Article
Brief Report: Whole‐Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans.
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- Arthritis & Rheumatology, 2018, v. 70, n. 10, p. 1654, doi. 10.1002/art.40541
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- Article
High-Density Genomewide Linkage Analysis of Exceptional Human Longevity Identifies Multiple Novel Loci.
- Published in:
- PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0012432
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- Article
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
- Published in:
- Human Genetics, 2021, v. 140, n. 1, p. 217, doi. 10.1007/s00439-020-02236-1
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- Article
Correction to: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 87, doi. 10.1186/1471-2350-12-87
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- Article
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward Syndrome.
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- Human Mutation, 2019, v. 40, n. 2, p. 162, doi. 10.1002/humu.23689
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- Article
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and RNA sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63516
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- Article