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Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.722694
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- Publication type:
- Article
Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa.
- Published in:
- 2021
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- Publication type:
- Case Study
A Novel ICIC Scheme Combining 3D ML-SFR and CoMP.
- Published in:
- Radioengineering, 2022, v. 31, n. 1, p. 85, doi. 10.13164/re.2022.0085
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- Publication type:
- Article
Mutational Analyses of the FMR1 Gene in Chinese Pediatric Population of Fragile X Suspects: Low Tolerance for Point Mutation.
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- Journal of Child Neurology, 2015, v. 30, n. 6, p. 803, doi. 10.1177/0883073814538508
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- Publication type:
- Article
CRISPR-Mediated In Situ Introduction or Integration of F9-Padua in Human iPSCs for Gene Therapy of Hemophilia B.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 9013, doi. 10.3390/ijms24109013
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- Publication type:
- Article
Novel Missense Variants in PAX8 and NKX2-1 Cause Congenital Hypothyroidism.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 786, doi. 10.3390/ijms24010786
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- Publication type:
- Article
Full-Length Dystrophin Restoration via Targeted Exon Addition in DMD-Patient Specific iPSCs and Cardiomyocytes.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 16, p. 9176, doi. 10.3390/ijms23169176
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- Publication type:
- Article
Targeted-Deletion of a Tiny Sequence via Prime Editing to Restore SMN Expression.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 14, p. 7941, doi. 10.3390/ijms23147941
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- Publication type:
- Article
Ectopic Expression of FVIII in HPCs and MSCs Derived from hiPSCs with Site-Specific Integration of ITGA2B Promoter-Driven BDDF8 Gene in Hemophilia A.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 2, p. 623, doi. 10.3390/ijms23020623
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- Publication type:
- Article
Paired CRISPR/Cas9 Nickases Mediate Efficient Site-Specific Integration of F9 into rDNA Locus of Mouse ESCs.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 10, p. 3035, doi. 10.3390/ijms19103035
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- Publication type:
- Article
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
REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1488
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- Publication type:
- Article
Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1313
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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
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- Publication type:
- Article
Site-Specific Integration of TRAIL in iPSC-Derived Mesenchymal Stem Cells for Targeted Cancer Therapy.
- Published in:
- Stem Cells Translational Medicine, 2022, v. 11, n. 3, p. 297, doi. 10.1093/stcltm/szab031
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- Publication type:
- Article
Generation of reporter hESCs by targeting EGFP at the CD144 locus to facilitate the endothelial differentiation.
- Published in:
- Development, Growth & Differentiation, 2018, v. 60, n. 4, p. 205, doi. 10.1111/dgd.12433
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- Publication type:
- Article
An Episomal CRISPR/Cas12a System for Mediating Efficient Gene Editing.
- Published in:
- Life (2075-1729), 2021, v. 11, n. 11, p. 1262, doi. 10.3390/life11111262
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- Publication type:
- Article
Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers.
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- 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
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 8, p. 435, doi. 10.1038/jhg.2015.43
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- Publication type:
- Article
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 6, p. 492, doi. 10.1007/s10038-007-0139-0
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- Publication type:
- Article
A syndactyly type IV locus maps to 7q36.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 6, p. 561, doi. 10.1007/s10038-007-0150-5
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- Publication type:
- Article
De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1613, doi. 10.1002/ajmg.a.37634
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- Publication type:
- Article
Identification of microRNAs in human follicular fluid: characterization of microRNAs that govern steroidogenesis in vitro and are associated with polycystic ovary syndrome in vivo.
- Published in:
- 2013
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- Publication type:
- Journal Article
Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome.
- Published in:
- 2016
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- Publication type:
- Case Study
A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.
- Published in:
- Scientific Reports, 2017, p. 44446, doi. 10.1038/srep44446
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- Publication type:
- Article
In situ genetic correction of F8 intron 22 inversion in hemophilia A patient-specific iPSCs.
- Published in:
- Scientific Reports, 2016, p. 18865, doi. 10.1038/srep18865
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- Publication type:
- Article
Eight-Shaped Hatching Increases the Risk of Inner Cell Mass Splitting in Extended Mouse Embryo Culture.
- Published in:
- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0145172
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- Publication type:
- Article
Targeting of the Human Coagulation Factor IX Gene at rDNA Locus of Human Embryonic Stem Cells.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0037071
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- Publication type:
- Article
Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children.
- Published in:
- 2019
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- Publication type:
- journal article
PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1.
- Published in:
- Muscle & Nerve, 2015, v. 52, n. 1, p. 69, doi. 10.1002/mus.24550
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- Publication type:
- Article
Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective study.
- Published in:
- BMC Pregnancy & Childbirth, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12884-023-05642-1
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- Publication type:
- Article
Behavioral and Gene Expression Analysis of Stxbp6-Knockout Mice.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 4, p. 436, doi. 10.3390/brainsci11040436
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- Publication type:
- Article
Fertilization and neonatal outcomes after early rescue intracytoplasmic sperm injection: a retrospective analysis of 16,769 patients.
- Published in:
- Archives of Gynecology & Obstetrics, 2022, v. 306, n. 1, p. 249, doi. 10.1007/s00404-022-06445-z
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- Publication type:
- Article
Chinese experts' consensus guideline on preimplantation genetic testing of monogenic disorders.
- Published in:
- Human Reproduction, 2023, v. 38, p. ii3, doi. 10.1093/humrep/dead112
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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
Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report.
- Published in:
- Molecular Medicine Reports, 2019, v. 19, n. 6, p. 4711, doi. 10.3892/mmr.2019.10153
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- Publication type:
- Article
Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data.
- Published in:
- Journal of Genetic Counseling, 2017, v. 26, n. 1, p. 72, doi. 10.1007/s10897-016-9980-7
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- Publication type:
- Article
Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.
- Published in:
- 2018
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- Publication type:
- journal article
Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia.
- Published in:
- Clinical Chemistry, 2023, v. 69, n. 3, p. 239, doi. 10.1093/clinchem/hvac200
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- Publication type:
- Article
Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.
- Published in:
- Clinical Chemistry, 2022, v. 68, n. 12, p. 1529, doi. 10.1093/clinchem/hvac154
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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
Noninvasive Prenatal Testing for Wilson Disease by Use of Circulating Single-Molecule Amplification and Resequencing Technology (cSMART).
- Published in:
- Clinical Chemistry, 2015, v. 61, n. 1, p. 172, doi. 10.1373/clinchem.2014.229328
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- Publication type:
- Article
A novel fusion suicide gene yeast CDglyTK plays a role in radio-gene therapy of nasopharyngeal carcinoma.
- Published in:
- Cancer Gene Therapy, 2004, v. 11, n. 12, p. 790, doi. 10.1038/sj.cgt.7700728
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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
Novel GZF1 pathogenic variants identified in two Chinese patients with Larsen syndrome.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 2, p. 281, doi. 10.1111/cge.13856
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- Publication type:
- Article
A Novel Adaptive Clustering Algorithm in 3D CoMP Communication for the Internet of Vehicles.
- Published in:
- Engineering Letters, 2024, v. 32, n. 1, p. 129
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- Publication type:
- Article
CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK‐Related Syndrome.
- Published in:
- Annals of Neurology, 2023, v. 94, n. 6, p. 1136, doi. 10.1002/ana.26766
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- Publication type:
- Article
A non-viral vector for potential DMD gene therapy study by targeting a minidystrophin-GFP fusion gene into the hrDNA locus.
- Published in:
- Acta Biochimica et Biophysica Sinica, 2009, v. 41, n. 12, p. 1053, doi. 10.1093/abbs/gmp080
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- Publication type:
- Article