Found: 59
Select item for more details and to access through your institution.
A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly–Polymicrogyria–Polydactyly–Hydrocephalus Syndrome.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Single-cell transcriptomic profiling reveals decreased ER protein Reticulon3 drives the progression of renal fibrosis.
- Published in:
- Molecular Biomedicine, 2024, v. 5, n. 1, p. 1, doi. 10.1186/s43556-024-00187-x
- By:
- Publication type:
- Article
Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts.
- Published in:
- Frontiers in Medicine, 2024, p. 1, doi. 10.3389/fmed.2024.1332992
- By:
- Publication type:
- Article
Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot-Marie-Tooth disease.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1319962
- By:
- Publication type:
- Article
A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09235-9
- By:
- Publication type:
- Article
Correction to: Increased RTN3 phenocopies nonalcoholic fatty liver disease by inhibiting the AMPK‐IDH2 pathway.
- Published in:
- MedComm, 2024, v. 5, n. 2, p. 1, doi. 10.1002/mco2.466
- By:
- Publication type:
- Article
Reticulon 3 regulates sphingosine‐1‐phosphate synthesis in endothelial cells to control blood pressure.
- Published in:
- MedComm, 2024, v. 5, n. 2, p. 1, doi. 10.1002/mco2.480
- By:
- Publication type:
- Article
Effects of rumination on cognitive emotion regulation and medication adherence in elderly hypertensive patients.
- Published in:
- Chinese Journal of Convalescent Medicine / Zhongguo Liaoyang Yixue, 2024, v. 33, n. 1, p. 94, doi. 10.13517/j.cnki.ccm.2024.01.021
- By:
- Publication type:
- Article
A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09235-9
- By:
- Publication type:
- Article
Gravity‐based focusing and size‐dependent separation of metal microparticles in lubricating oil.
- Published in:
- Electrophoresis, 2023, v. 44, n. 23, p. 1889, doi. 10.1002/elps.202300086
- By:
- Publication type:
- Article
A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease.
- Published in:
- Hereditas, 2023, v. 160, n. 1, p. 1, doi. 10.1186/s41065-023-00299-4
- By:
- Publication type:
- Article
Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1205052
- By:
- Publication type:
- Article
Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1208540
- By:
- Publication type:
- Article
A novel mutation of Myotilin is associated with muscular dystrophy and postoperative respiratory failure.
- Published in:
- QJM: An International Journal of Medicine, 2023, v. 116, n. 10, p. 859, doi. 10.1093/qjmed/hcad136
- By:
- Publication type:
- Article
Case report: A novel mutation of RecQ-like helicase 5 in a Chinese family with early myocardial infarction, coronary artery disease, and stroke hemiplegia.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1146932
- By:
- Publication type:
- Article
Case report: A novel mutation of RecQ-like helicase 5 in a Chinese family with early myocardial infarction, coronary artery disease, and stroke hemiplegia.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1146932
- By:
- Publication type:
- Article
Increased RTN3 phenocopies nonalcoholic fatty liver disease by inhibiting the AMPK–IDH2 pathway.
- Published in:
- MedComm, 2023, v. 4, n. 2, p. 1, doi. 10.1002/mco2.226
- By:
- Publication type:
- Article
Efficient Focusing of Aerosol Particles in the Microchannel under Reverse External Force: A Numerical Simulation Study.
- Published in:
- Micromachines, 2023, v. 14, n. 3, p. 554, doi. 10.3390/mi14030554
- By:
- Publication type:
- Article
Silencing MYOT Expression May Inhibit Autophagy in Human Skeletal Muscle Cells.
- Published in:
- Disease Markers, 2023, v. 2023, p. 1, doi. 10.1155/2023/3350685
- By:
- Publication type:
- Article
Elastic‐inertial separation of microparticle in a gradually contracted microchannel.
- Published in:
- Electrophoresis, 2022, v. 43, n. 21, p. 2217, doi. 10.1002/elps.202200083
- By:
- Publication type:
- Article
Loss of RTN3 phenocopies chronic kidney disease and results in activation of the IGF2-JAK2 pathway in proximal tubular epithelial cells.
- Published in:
- Experimental & Molecular Medicine EMM, 2022, v. 54, n. 5, p. 653, doi. 10.1038/s12276-022-00763-7
- By:
- Publication type:
- Article
A novel POF1B variant in a Chinese patient is associated with premature ovarian failure.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 6, p. 773, doi. 10.1111/cge.14048
- By:
- Publication type:
- Article
Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.761003
- By:
- Publication type:
- Article
Efficient microfluidic enrichment of nano‐/submicroparticle in viscoelastic fluid.
- Published in:
- Electrophoresis, 2021, v. 42, n. 21, p. 2273, doi. 10.1002/elps.202000330
- By:
- Publication type:
- Article
Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.743184
- By:
- Publication type:
- Article
Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome.
- Published in:
- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/4535349
- By:
- Publication type:
- Article
Case Report: A Homozygous Mutation (p.Y62X) of Phospholipase D3 May Lead to a New Leukoencephalopathy Syndrome.
- Published in:
- Frontiers in Aging Neuroscience, 2021, v. 13, p. 1, doi. 10.3389/fnagi.2021.671296
- By:
- Publication type:
- Article
Corrigendum: Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
Whole-Exome Sequencing Identifies a Novel TRPM4 Mutation in a Chinese Family with Atrioventricular Block.
- Published in:
- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/9247541
- By:
- Publication type:
- Article
Whole-Exome Sequencing Identifies a Novel TRPM4 Mutation in a Chinese Family with Atrioventricular Block.
- Published in:
- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/9247541
- By:
- Publication type:
- Article
Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 2, p. 96, doi. 10.1159/000512856
- By:
- Publication type:
- Article
Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.
- Published in:
- Frontiers in Neuroscience, 2021, v. 14, p. N.PAG, doi. 10.3389/fnins.2021.604715
- By:
- Publication type:
- Article
MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.
- Published in:
- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/4381272
- By:
- Publication type:
- Article
A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1545
- By:
- Publication type:
- Article
Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate.
- Published in:
- BioMed Research International, 2020, p. 1, doi. 10.1155/2020/8790531
- By:
- Publication type:
- Article
A Novel Nonsense Mutation of ABCA8 in a Han-Chinese Family With ASCVD Leads to the Reduction of HDL-c Levels.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00755
- By:
- Publication type:
- Article
Enhanced viscoelastic focusing of particle in microchannel.
- Published in:
- Electrophoresis, 2020, v. 41, n. 10/11, p. 973, doi. 10.1002/elps.201900397
- By:
- Publication type:
- Article
Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00492
- By:
- Publication type:
- Article
Clinical and Genetic Analyses of 38 Chinese Patients with Peutz-Jeghers Syndrome.
- Published in:
- BioMed Research International, 2020, p. 1, doi. 10.1155/2020/9159315
- By:
- Publication type:
- Article
Identification of a Novel Arginine Vasopressin Receptor 2 Mutation (p.V183M) in a Chinese Family with Nephrogenic Diabetes Insipidus.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 3, p. 130, doi. 10.1159/000507035
- By:
- Publication type:
- Article
A Novel Heterozygous Variant in F2 Gene in a Chinese Patient With Coronary Thrombosis and Acute Myocardial Infarction Leads to Antithrombin Resistance.
- Published in:
- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00184
- By:
- Publication type:
- Article
Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0917-5
- By:
- Publication type:
- Article
Letter to Editor: Whole Exome Sequencing Identified a 13 Base Pair MYH7 Deletion-mutation in a Patient with Restrictive Cardiomyopathy and Left Ventricle Hypertrophy.
- Published in:
- Annals of Clinical & Laboratory Science, 2019, v. 49, n. 6, p. 838
- By:
- Publication type:
- Article
A de novo mutation of SMYD1 (p.F272L) is responsible for hypertrophic cardiomyopathy in a Chinese patient.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2019, v. 57, n. 4, p. 532, doi. 10.1515/cclm-2018-0578
- By:
- Publication type:
- Article
A passive microfluidic device for continuous microparticle enrichment.
- Published in:
- Electrophoresis, 2019, v. 40, n. 6, p. 1000, doi. 10.1002/elps.201800454
- By:
- Publication type:
- Article
A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole‐exome sequencing in a Chinese family with dilated cardiomyopathy.
- Published in:
- Annals of Human Genetics, 2019, v. 83, n. 2, p. 95, doi. 10.1111/ahg.12287
- By:
- Publication type:
- Article
Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β‐spectrin in a Chinese family with hereditary spherocytosis.
- Published in:
- Journal of Gene Medicine, 2019, v. 21, n. 2/3, p. 1, doi. 10.1002/jgm.3073
- By:
- Publication type:
- Article
Whole-exome sequencing reveals doubly novel heterozygous Myosin Binding Protein C and Titin mutations in a Chinese patient with severe dilated cardiomyopathy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Whole-exome sequencing identifies a Novel SCN5A mutation (C335R) in a Chinese family with arrhythmia.
- Published in:
- Cardiology in the Young, 2018, v. 28, n. 5, p. 688, doi. 10.1017/S1047951117002980
- By:
- Publication type:
- Article
Whole‐exome sequencing identifies a novel mutation of <italic>GPD1L</italic> (R189X) associated with familial conduction disease and sudden death.
- Published in:
- Journal of Cellular & Molecular Medicine, 2018, v. 22, n. 2, p. 1350, doi. 10.1111/jcmm.13409
- By:
- Publication type:
- Article