Found: 8
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A Homozygous Missense Variant in the APOB gene in Patients from Hypercholesterolemia Families.
- Published in:
- Egyptian Academic Journal of Biological Sciences, C Physiology & Molecular Biology, 2019, v. 11, n. 3, p. 31, doi. 10.21608/eajbsc.2019.47020
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- Article
Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0393-8
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- Article
Biallelic loss of function variant in ZNF808 is associated with non‐syndromic neonatal diabetes.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 4, p. 497, doi. 10.1111/cge.14389
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- Article
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal‐onset diabetes.
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- Clinical Genetics, 2021, v. 99, n. 5, p. 694, doi. 10.1111/cge.13930
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- Article
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.
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- Human Genetics, 2016, v. 135, n. 10, p. 1199, doi. 10.1007/s00439-016-1724-0
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- Article
Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome.
- Published in:
- Journal of Nephrology (JNonline), 2020, v. 33, n. 4, p. 763, doi. 10.1007/s40620-019-00692-1
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- Article
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
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- Human Molecular Genetics, 2024, v. 33, n. 2, p. 150, doi. 10.1093/hmg/ddad171
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- Article
Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.2.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 2, p. 56, doi. 10.1111/cga.12235
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- Article