Found: 19
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Analysis of DYRK1B, PPARG, and CEBPB Expression Patterns in Adipose-Derived Stem Cells from Patients Carrying DYRK1B R102C and Healthy Individuals During Adipogenesis.
- Published in:
- Metabolic Syndrome & Related Disorders, 2022, v. 20, n. 10, p. 576, doi. 10.1089/met.2021.0140
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- Article
Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review.
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- Molecular Syndromology, 2022, v. 13, n. 5, p. 381, doi. 10.1159/000522353
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- Article
Intronic OTOF mutation causes an atypical splicing defect resulting in auditory neuropathy spectrum disorder.
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- Journal of Genetics, 2023, v. 102, n. 1, p. 1, doi. 10.1007/s12041-023-01420-2
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- Article
MCM2 mutation causes autosomal dominant nonsyndromic hearing loss (DFNA70): novel variant in the second family.
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- Journal of Genetics, 2022, v. 101, n. 1, p. 1, doi. 10.1007/s12041-022-01364-z
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- Article
Exome sequencing identified a de novo frameshift pathogenic variant of CTBP1 in an extremely rare case of HADDTS.
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- Journal of Genetics, 2021, v. 100, n. 2, p. 1, doi. 10.1007/s12041-021-01315-0
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- Article
Novel insight into FCSK‐congenital disorder of glycosylation through a CRISPR‐generated cell model.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 5, p. 1, doi. 10.1002/mgg3.2445
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- Article
A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant.
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- Archives of Iranian Medicine (AIM), 2023, v. 26, n. 2, p. 86, doi. 10.34172/aim.2023.14
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- Article
Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review.
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- Journal of Dermatology, 2023, v. 50, n. 10, p. 1357, doi. 10.1111/1346-8138.16849
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- Article
A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness.
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- Annals of Human Genetics, 2023, v. 87, n. 4, p. 147, doi. 10.1111/ahg.12501
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- Article
Clinical features of patients with Yin Yang 1 deficiency causing Gabriele‐de Vries syndrome: A new case and review of the literature.
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- Annals of Human Genetics, 2022, v. 86, n. 1, p. 52, doi. 10.1111/ahg.12448
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- Article
Correction: A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): a case report.
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- 2021
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- Correction Notice
Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00171-9
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- Article
A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report.
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- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00164-8
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- Publication type:
- Article
A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site.
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- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00160-y
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- Article
A novel PTRH2 missense mutation causing IMNEPD: a case report.
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- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00147-9
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- Article
Severe phenotype of an Iranian patient with methemoglobinemia type II due to a novel mutation in the CYB5R3 gene.
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- Iranian Journal of Pediatric Hematology & Oncology, 2021, v. 11, n. 4, p. 280
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- Article
EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review.
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- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00229-w
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- Article
LIMA1 Gene Knockout by CRISPR/Cas9 System Using Lentiviruses as an in Vitro Model for Reducing Cholesterol Absorption.
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- International Cardiovascular Research Journal, 2022, v. 16, n. 4, p. 129
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- Article
A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease.
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- Frontiers in Genetics, 2022, v. 13, p. 01, doi. 10.3389/fgene.2022.1021037
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- Article