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Functional study of a rare L1CAM gene c.1759G>C variant prove its pathogenicity.
- Published in:
- Cell Biochemistry & Function, 2024, v. 42, n. 4, p. 1, doi. 10.1002/cbf.4034
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- Article
Contributions of common genetic variants to specific languages and to when a language is learned.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-021-04163-1
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- Article
Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.742325
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- Article
Glucose-6-phosphatase gene (727G→T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type la.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 184, doi. 10.1111/j.1399-0004.1998.tb02674.x
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- Article
Cell‐free DNA test for fetal chromosomal abnormalities in multiple pregnancies.
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- Acta Obstetricia et Gynecologica Scandinavica, 2024, v. 103, n. 9, p. 1799, doi. 10.1111/aogs.14901
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- Article
The role of chromosomal microarray analysis among fetuses with normal karyotype and single system anomaly or nonspecific sonographic findings.
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- Acta Obstetricia et Gynecologica Scandinavica, 2021, v. 100, n. 2, p. 235, doi. 10.1111/aogs.14003
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- Article
The CCCTC‐binding factor (CTCF)–forkhead box protein M1 axis regulates tumour growth and metastasis in hepatocellular carcinoma.
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- Journal of Pathology, 2017, v. 243, p. 418, doi. 10.1002/path.4976
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- Article
The CCCTC-binding factor (CTCF)-forkhead box protein M1 axis regulates tumour growth and metastasis in hepatocellular carcinoma.
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- Journal of Pathology, 2017, v. 243, n. 4, p. 418, doi. 10.1002/path.4976
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- Article
Effect of assisted reproductive technology on fetal brain development assessed by prenatal ultrasonography.
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- Journal of Perinatal Medicine, 2015, v. 43, n. 1, p. 103, doi. 10.1515/jpm-2014-0020
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- Article
Dyslexia-related loci are significantly associated with language and literacy in Chinese–English bilingual Hong Kong Chinese twins.
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- Human Genetics, 2023, v. 142, n. 10, p. 1519, doi. 10.1007/s00439-023-02594-6
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- Article
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility.
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- Human Genetics, 2023, v. 142, n. 3, p. 363, doi. 10.1007/s00439-022-02510-4
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- Article
Deciphering the complexity of simple chromosomal insertions by genome sequencing.
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- Human Genetics, 2021, v. 140, n. 2, p. 361, doi. 10.1007/s00439-020-02210-x
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- Article
Low-pass genome sequencing: a validated method in clinical cytogenetics.
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- Human Genetics, 2020, v. 139, n. 11, p. 1403, doi. 10.1007/s00439-020-02185-9
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- Article
Neuropathological signatures revealed by transcriptomic and proteomic analysis in Pten-deficient mouse models.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-33869-7
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- Article
Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1942, doi. 10.1002/ajmg.a.37660
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- Publication type:
- Article
Constitutive activation of distinct NF-κB signals in EBV-associated nasopharyngeal carcinoma.
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- Journal of Pathology, 2013, v. 231, n. 3, p. 311, doi. 10.1002/path.4239
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- Publication type:
- Article
Inhibition of NOTCH3 signalling significantly enhances sensitivity to cisplatin in EBV-associated nasopharyngeal carcinoma.
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- Journal of Pathology, 2012, v. 226, n. 3, p. 471, doi. 10.1002/path.2997
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- Article
Reduced CRYL1 expression in hepatocellular carcinoma confers cell growth advantages and correlates with adverse patient prognosis.
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- Journal of Pathology, 2010, v. 220, n. 3, p. 348, doi. 10.1002/path.2644
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- Article
Identification of a novel 12p13.3 amplicon in nasopharyngeal carcinoma.
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- Journal of Pathology, 2010, v. 220, n. 1, p. 97, doi. 10.1002/path.2609
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- Publication type:
- Article
Local administration of siRNA through Microneedle: Optimization, Bio-distribution, Tumor Suppression and Toxicity.
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- Scientific Reports, 2016, p. 30430, doi. 10.1038/srep30430
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- Article
Transdifferentiation of periodontal ligament-derived stem cells into retinal ganglion-like cells and its microRNA signature.
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- Scientific Reports, 2015, p. 16429, doi. 10.1038/srep16429
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- Article
Prenatal Diagnosis and Pregnancy Outcomes of Fetuses With Orofacial Cleft: A Retrospective Cohort Study in Two Centres in Hong Kong.
- Published in:
- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 3, p. 391, doi. 10.1177/10556656221128436
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- Article
Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly.
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- Autism Research: Official Journal of the International Society for Autism Research, 2018, v. 11, n. 8, p. 1098, doi. 10.1002/aur.1950
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- Article
PSCC: Sensitive and Reliable Population-Scale Copy Number Variation Detection Method Based on Low Coverage Sequencing.
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- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085096
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- Article
MicroRNA-183 suppresses cancer stem-like cell properties in EBV-associated nasopharyngeal carcinoma.
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- 2016
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- Publication type:
- journal article
Urinary incontinence should be added to the manifestation in women with Marfan syndrome.
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- International Urogynecology Journal, 2010, v. 21, n. 5, p. 583, doi. 10.1007/s00192-009-1078-4
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- Article
Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations.
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- Fetal Diagnosis & Therapy, 2023, v. 50, n. 2, p. 84, doi. 10.1159/000529504
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- Article
A genome-wide association study of Chinese and English language phenotypes in Hong Kong Chinese children.
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- NPJ Science of Learning, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41539-024-00229-7
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- Publication type:
- Article
Prevalence of mutations in the BRCA1 gene among Chinese patients with breast cancer.
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- 1999
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- Publication type:
- journal article
Autism‐associated PTEN missense mutation leads to enhanced nuclear localization and neurite outgrowth in an induced pluripotent stem cell line.
- Published in:
- FEBS Journal, 2020, v. 287, n. 22, p. 4848, doi. 10.1111/febs.15287
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- Publication type:
- Article
A pilot investigation of low-pass genome sequencing identifying site-specific variation in chromosomal mosaicisms by a multiple site sampling approach in first-trimester miscarriages.
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- Human Reproduction, 2023, v. 38, n. 8, p. 1628, doi. 10.1093/humrep/dead090
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- Article
Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis.
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- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00761
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- Article
Exome Sequencing Identifies a Novel Frameshift Mutation of MYO6 as the Cause of Autosomal Dominant Nonsyndromic Hearing Loss in a Chinese Family.
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- Annals of Human Genetics, 2014, v. 78, n. 6, p. 410, doi. 10.1111/ahg.12084
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- Article
Nanocomposite-Strengthened Dissolving Microneedles for Improved Transdermal Delivery to Human Skin.
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- Advanced Healthcare Materials, 2014, v. 3, n. 4, p. 555, doi. 10.1002/adhm.201300312
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- Publication type:
- Article
Vaccine Delivery: Nanocomposite-Strengthened Dissolving Microneedles for Improved Transdermal Delivery to Human Skin (Adv. Healthcare Mater. 4/2014).
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- Advanced Healthcare Materials, 2014, v. 3, n. 4, p. 462, doi. 10.1002/adhm.201470018
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- Publication type:
- Article
Authentication of nasopharyngeal carcinoma tumor lines.
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- International Journal of Cancer, 2008, v. 122, n. 9, p. 2169, doi. 10.1002/ijc.23374
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- Article
Genetic screening in patients with ovarian dysfunction.
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- Clinical Genetics, 2023, v. 103, n. 3, p. 352, doi. 10.1111/cge.14267
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- Publication type:
- Article
Thalassemia screening by third-generation sequencing: Pilot study in a Thai population.
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- Obstetric Medicine (1753-495X), 2024, v. 17, n. 2, p. 101, doi. 10.1177/1753495X231207676
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- Publication type:
- Article
A rabbit model of age-dependant ocular hypertensive response to topical corticosteroids.
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- Acta Ophthalmologica (1755375X), 2012, v. 90, n. 6, p. 559, doi. 10.1111/j.1755-3768.2010.02016.x
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- Article
A γA-Crystallin Mouse Mutant Secc with Small Eye, Cataract and Closed Eyelid.
- Published in:
- PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0160691
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- Publication type:
- Article
Identification of cryptic balanced translocations in couples with unexplained recurrent pregnancy loss based upon embryonic PGT-A results.
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- Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 1, p. 171, doi. 10.1007/s10815-023-02999-2
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- Publication type:
- Article
A prospective study of non-invasive preimplantation genetic testing for aneuploidies (NiPGT-A) using next-generation sequencing (NGS) on spent culture media (SCM).
- Published in:
- Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 8, p. 1609, doi. 10.1007/s10815-019-01517-7
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- Publication type:
- Article
Disseminated peritoneal leiomyomatosis after laparoscopic supracervical hysterectomy with characteristic molecular cytogenetic findings of uterine leiomyoma.
- Published in:
- Genes, Chromosomes & Cancer, 2010, v. 49, n. 12, p. 1152, doi. 10.1002/gcc.20824
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- Publication type:
- Article
The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing.
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- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 2, p. 36, doi. 10.3390/ijns8020036
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- Article
Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting.
- Published in:
- Diagnostics (2075-4418), 2022, v. 12, n. 10, p. 2439, doi. 10.3390/diagnostics12102439
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- Publication type:
- Article
A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 9, p. 1576, doi. 10.3390/diagnostics11091576
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- Publication type:
- Article
Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.803088
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- Publication type:
- Article
TEDD: a database of temporal gene expression patterns during multiple developmental periods in human and model organisms.
- Published in:
- Nucleic Acids Research, 2023, v. 51, n. D1, p. D1168, doi. 10.1093/nar/gkac978
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- Article
MicroRNA‐132 directs human periodontal ligament‐derived neural crest stem cell neural differentiation.
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- Journal of Tissue Engineering & Regenerative Medicine, 2019, v. 13, n. 1, p. 12, doi. 10.1002/term.2759
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- Article
Renal and extra‐renal phenotypes in a fetus with a de novo pathogenic variant in the HNF1B gene.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 2, p. 251, doi. 10.1002/pd.6501
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- Article