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A Novel Nonsense GLI3 Variant Is Associated With Polydactyly and Syndactyly in a Family by Blocking the Sonic Hedgehog Signaling Pathway.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.542004
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- Publication type:
- Article
MET mutation causes muscular dysplasia and arthrogryposis.
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- EMBO Molecular Medicine, 2019, v. 11, n. 3, p. N.PAG, doi. 10.15252/emmm.201809709
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- Publication type:
- Article
Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 4, p. 626, doi. 10.3390/ijms18040626
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- Publication type:
- Article
Dual-Encoded Microbeads through a Host-Guest Structure: Enormous, Flexible, and Accurate Barcodes for Multiplexed Assays.
- Published in:
- Advanced Functional Materials, 2016, v. 26, n. 34, p. 6146, doi. 10.1002/adfm.201601963
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- Publication type:
- Article
Multiplexed Bioassays: Dual-Encoded Microbeads through a Host-Guest Structure: Enormous, Flexible, and Accurate Barcodes for Multiplexed Assays (Adv. Funct. Mater. 34/2016).
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- Advanced Functional Materials, 2016, v. 26, n. 34, p. 6137, doi. 10.1002/adfm.201670217
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- Publication type:
- Article
Characterization of Six Missense Mutations in the Tissue-Nonspecific Alkaline Phosphatase (TNSALP) Gene in Chinese Children with Hypophosphatasia.
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- Cellular Physiology & Biochemistry (Karger AG), 2013, v. 32, n. 3, p. 635, doi. 10.1159/000354467
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- Publication type:
- Article
SORBS2 is a genetic factor contributing to cardiac malformation of 4q deletion syndrome patients.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.67481
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- Publication type:
- Article
A Novel Missense Mutation of TNNI2 in a Chinese Family Cause Distal Arthrogryposis Type 1.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 135, doi. 10.1002/ajmg.a.37391
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- Publication type:
- Article
Predisposition to atrioventricular septal defects may be caused by SOX7 variants that impair interaction with GATA4.
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- Molecular Genetics & Genomics, 2022, v. 297, n. 3, p. 671, doi. 10.1007/s00438-022-01859-5
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- Publication type:
- Article
Human fetal heart specific coexpression network involves congenital heart disease/defect candidate genes.
- Published in:
- Scientific Reports, 2017, p. 46760, doi. 10.1038/srep46760
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- Article
A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity.
- Published in:
- Scientific Reports, 2017, p. 44165, doi. 10.1038/srep44165
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- Publication type:
- Article
Association between ABO Blood Group and Risk of Congenital Heart Disease: A 6-year large cohort study.
- Published in:
- Scientific Reports, 2017, p. 42804, doi. 10.1038/srep42804
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- Publication type:
- Article
The Fas/Fas Ligand Death Receptor Pathway Contributes to Phenylalanine-Induced Apoptosis in Cortical Neurons.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0071553
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- Publication type:
- Article
Screening for Coding Variants in <i>FTO</i> and <i>SH2B1</i> Genes in Chinese Patients with Obesity.
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- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067039
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- Publication type:
- Article
Novel Mutations in the <i>SCNN1A</i> Gene Causing Pseudohypoaldosteronism Type 1.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0065676
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- Publication type:
- Article
Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01090-y
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- Publication type:
- Article
Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus.
- Published in:
- Human Genetics, 2016, v. 135, n. 10, p. 1181, doi. 10.1007/s00439-016-1701-7
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- Publication type:
- Article
Identification of LDLR mutations in two Chinese pedigrees with familial hypercholesterolemia.
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- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 7/8, p. 769, doi. 10.1515/jpem-2012-0024
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- Publication type:
- Article
Identification of two novel BCKDHA mutations in a Chinese patient with maple syrup urine disease.
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- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 9/10, p. 827, doi. 10.1515/JPEM.2011.278
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- Publication type:
- Article
Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly.
- Published in:
- Congenital Anomalies, 2017, v. 57, n. 1, p. 4, doi. 10.1111/cga.12173
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- Publication type:
- Article
Clinical study of 459 polydactyly cases in China, 2010 to 2014.
- Published in:
- Congenital Anomalies, 2016, v. 56, n. 5, p. 226, doi. 10.1111/cga.12163
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- Publication type:
- Article
Rare Copy Number Variations Might Not be Involved in the Molecular Pathogenesis of PA–IVS in an Unselected Chinese Cohort.
- Published in:
- Pediatric Cardiology, 2019, v. 40, n. 4, p. 762, doi. 10.1007/s00246-019-02062-x
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- Publication type:
- Article
Familial Nonsyndromic Patent Ductus Arteriosus Caused by Mutations in TFAP2B.
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- Pediatric Cardiology, 2011, v. 32, n. 7, p. 958, doi. 10.1007/s00246-011-0024-7
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- Publication type:
- Article
HBprem: A database of transcription, translation, and posttranscriptional and posttranslational modifications in hepatoblastoma.
- Published in:
- Clinical & Translational Medicine, 2020, v. 10, n. 2, p. 1, doi. 10.1002/ctm2.107
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- Publication type:
- Article
Identification of miRNA–mRNA–TFs Regulatory Network and Crucial Pathways Involved in Tetralogy of Fallot.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00552
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- Publication type:
- Article
Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation.
- Published in:
- 2021
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- Publication type:
- journal article
A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication.
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- 2018
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- Publication type:
- journal article
The clinical application and laboratory management of molecular genetic diagnosis in children's hospital.
- Published in:
- Clinical & Translational Discovery, 2024, v. 4, n. 3, p. 1, doi. 10.1002/ctd2.315
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- Publication type:
- Article
Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype.
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- Experimental & Therapeutic Medicine, 2016, v. 11, n. 6, p. 2247, doi. 10.3892/etm.2016.3241
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- Publication type:
- Article
X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and in vitro study of a novel small indel in the NR0B1 gene.
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- Molecular Medicine Reports, 2016, v. 13, n. 5, p. 4039, doi. 10.3892/mmr.2016.5006
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- Publication type:
- Article
Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency.
- Published in:
- Molecular Medicine Reports, 2016, v. 13, n. 4, p. 3127, doi. 10.3892/mmr.2016.4906
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- Publication type:
- Article
Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.
- Published in:
- Molecular Medicine Reports, 2014, v. 9, n. 4, p. 1191, doi. 10.3892/mmr.2014.1955
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- Publication type:
- Article
Accurate diagnosis of spinal muscular atrophy and 22q11.2 deletion syndrome using limited deoxynucleotide triphosphates and high-resolution melting.
- Published in:
- BMC Genomics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12864-018-4833-4
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- Publication type:
- Article
Identification of TBX2 and TBX3 variants in patients with conotruncal heart defects by target sequencing.
- Published in:
- Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0176-0
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- Publication type:
- Article
Nonframeshifting indel variations in polyalanine repeat of HOXD13 gene underlies hereditary limb malformation for two Chinese families.
- Published in:
- Developmental Dynamics, 2021, v. 250, n. 9, p. 1220, doi. 10.1002/dvdy.310
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- Publication type:
- Article
Mutational screening of GLI3, SHH, preZRS, and ZRS in 102 Chinese children with nonsyndromic polydactyly.
- Published in:
- Developmental Dynamics, 2017, v. 246, n. 5, p. 392, doi. 10.1002/dvdy.24488
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- Publication type:
- Article
Molecular Characteristics of Community-Associated Staphylococcus aureus Isolates From Pediatric Patients With Bloodstream Infections Between 2012 and 2017 in Shanghai, China.
- Published in:
- Frontiers in Microbiology, 2018, p. 1, doi. 10.3389/fmicb.2018.01211
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- Publication type:
- Article
Rare Copy Number Variants Identify Novel Genes in Sporadic Total Anomalous Pulmonary Vein Connection.
- Published in:
- Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00559
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- Publication type:
- Article
A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease.
- Published in:
- PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0158904
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- Publication type:
- Article
MESP2 variants contribute to conotruncal heart defects by inhibiting cardiac neural crest cell proliferation.
- Published in:
- Journal of Molecular Medicine, 2020, v. 98, n. 7, p. 1035, doi. 10.1007/s00109-020-01929-4
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- Publication type:
- Article
Integrated analysis of copy number variation-associated lncRNAs identifies candidates contributing to the etiologies of congenital kidney anomalies.
- Published in:
- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05101-9
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- Publication type:
- Article
Sexual difference of small RNA expression in Tetralogy of Fallot.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-31243-6
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- Publication type:
- Article
A case of factor XI deficiency caused by compound heterozygous F11 gene mutation.
- Published in:
- 2009
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- Publication type:
- Letter
MAMLD1 GENE MUTATION IN THE INCIDENCE OF HYPOSPADIAS IN THE CHINESE POPULATION.
- Published in:
- Journal of Medical Biochemistry, 2014, v. 33, n. 4, p. 341, doi. 10.2478/jomb-2014-0018
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- Publication type:
- Article
A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal.
- Published in:
- Journal of Bone & Mineral Research, 2016, v. 31, n. 4, p. 882, doi. 10.1002/jbmr.2761
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- Publication type:
- Article
A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1590-5
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- Publication type:
- Article
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 22, doi. 10.1186/1471-2164-15-1127
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- Publication type:
- Article
Copy number variation-associated lncRNAs may contribute to the etiologies of congenital heart disease.
- Published in:
- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-04565-z
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- Publication type:
- Article