Found: 13
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Ciliary Dyneins and Dynein Related Ciliopathies.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 8, p. 1885, doi. 10.3390/cells10081885
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- Publication type:
- Article
Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia.
- Published in:
- European Journal of Haematology, 2017, v. 98, n. 3, p. 218, doi. 10.1111/ejh.12819
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- Publication type:
- Article
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34815-8
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- Publication type:
- Article
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
- Published in:
- 2021
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- Publication type:
- journal article
Genome at Juncture of Early Human Migration: A Systematic Analysis of Two Whole Genomes and Thirteen Exomes from Kuwaiti Population Subgroup of Inferred Saudi Arabian Tribe Ancestry.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0099069
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- Publication type:
- Article
Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.861236
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- Publication type:
- Article
Sudden cardiac death diagnosed with dilated cardiomyopathy in a Kuwaiti family: a case report.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 8, p. 1, doi. 10.1371/journal.pgen.1007602
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- Publication type:
- Article
Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease.
- Published in:
- Human Mutation, 2013, v. 34, n. 5, p. 714, doi. 10.1002/humu.22294
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- Publication type:
- Article
Mutations in CCDC 39 and CCDC 40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms.
- Published in:
- Human Mutation, 2013, v. 34, n. 3, p. 462, doi. 10.1002/humu.22261
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- Publication type:
- Article
Linkage analysis using whole exome sequencing data implicates SLC17A1, SLC17A3, TATDN2 and TMEM131L in type 1 diabetes in Kuwaiti families.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-42255-2
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- Publication type:
- Article
Linkage analysis using whole exome sequencing data implicates SLC17A1, SLC17A3, TATDN2 and TMEM131L in type 1 diabetes in Kuwaiti families.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-42255-2
- By:
- Publication type:
- Article
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
- Published in:
- PLoS Genetics, 2023, v. 19, n. 6, p. 1, doi. 10.1371/journal.pgen.1010796
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- Publication type:
- Article