Found: 18
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Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00680-y
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- Publication type:
- Article
Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis.
- Published in:
- Human Genetics, 2021, v. 140, n. 5, p. 791, doi. 10.1007/s00439-020-02243-2
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- Publication type:
- Article
Circ_0033596 depletion ameliorates oxidized low-density lipoprotein-induced human umbilical vein endothelial cell damage.
- Published in:
- Clinical Hemorheology & Microcirculation, 2023, v. 84, n. 1, p. 53, doi. 10.3233/CH-221686
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- Publication type:
- Article
Prenatal case of Simpson–Golabi–Behmel syndrome with a de novo 370Kb‐sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1750
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- Publication type:
- Article
Cover.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1170
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- Publication type:
- Article
A novel GJB1 mutation associated with X‐linked Charcot–Marie–Tooth disease in a large Chinese family pedigree.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1127
- By:
- Publication type:
- Article
Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers.
- Published in:
- Annals of Laboratory Medicine, 2021, v. 41, n. 1, p. 101, doi. 10.3343/alm.2021.41.1.101
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- Publication type:
- Article
Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1.
- Published in:
- BioMed Research International, 2018, p. 1, doi. 10.1155/2018/4032543
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- Publication type:
- Article
Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.
- Published in:
- Clinical Chemistry, 2022, v. 68, n. 7, p. 927, doi. 10.1093/clinchem/hvac046
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- Publication type:
- Article
VSIG4 regulates macrophages polarization and alleviates inflammation through activating PI3K/AKT and inhibiting TLR4/NF-κB pathway in myocardial ischemia-reperfusion injury rats.
- Published in:
- Physiology International, 2022, v. 109, n. 3, p. 356, doi. 10.1556/2060.2022.00055
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- Publication type:
- Article
Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole‐exome sequencing: A retrospective cohort study.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 2, p. 219, doi. 10.1111/cge.13976
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- Publication type:
- Article
Urine albumin‐to‐creatinine ratio within the normal range and risk of hypertension in the general population: A meta‐analysis.
- Published in:
- Journal of Clinical Hypertension, 2021, v. 23, n. 7, p. 1284, doi. 10.1111/jch.14263
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- Publication type:
- Article
Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations.
- Published in:
- Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.750719
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- Publication type:
- Article
The Caenorhabditis elegans Gene mfap-1 Encodes a Nuclear Protein That Affects Alternative Splicing.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 7, p. 1, doi. 10.1371/journal.pgen.1002827
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- Publication type:
- Article
Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1172947
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- Publication type:
- Article
O-Sialoglycoprotein Endopeptidase Deficiency Impairs Proteostasis and Induces Autophagy in Human Embryonic Stem Cells.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7889, doi. 10.3390/ijms25147889
- By:
- Publication type:
- Article
Application of whole exome sequencing in carrier screening for high-risk families without probands.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1415811
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- Publication type:
- Article