Found: 14
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Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 10, p. 753, doi. 10.1038/jhg.2011.90
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- Article
Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach.
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- Journal of Human Genetics, 2011, v. 56, n. 6, p. 469, doi. 10.1038/jhg.2011.37
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- Article
A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.
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- Journal of Human Genetics, 2010, v. 55, n. 11, p. 764, doi. 10.1038/jhg.2010.102
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- Article
Zebrafish frizzled-2 morphant displays defects in body axis elongation.
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- Genesis: The Journal of Genetics & Development, 2001, v. 30, n. 3, p. 114, doi. 10.1002/gene.1043
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- Article
Pseudomosaicism for trisomy 13: Three case reports.
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- Prenatal Diagnosis, 1987, v. 7, n. 6, p. 395, doi. 10.1002/pd.1970070604
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- Article
Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family.
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- Annals of Rehabilitation Medicine, 2017, v. 41, n. 3, p. 505, doi. 10.5535/arm.2017.41.3.505
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- Article
ACVR1<sup>R206H</sup> receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A.
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- Science Translational Medicine, 2015, v. 7, n. 303, p. 1, doi. 10.1126/scitranslmed.aac4358
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- Article
Wnt5 signaling in vertebrate pancreas development.
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- BMC Biology, 2005, v. 3, p. 23, doi. 10.1186/1741-7007-3-23
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- Article
Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases.
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- Molecular Cytogenetics (17558166), 2011, v. 4, n. 1, p. 12, doi. 10.1186/1755-8166-4-12
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- Article
Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability.
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- Yonsei Medical Journal, 2018, v. 59, n. 3, p. 431, doi. 10.3349/ymj.2018.59.3.431
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- Article
14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay.
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- Neonatal Medicine, 2020, v. 27, n. 4, p. 207, doi. 10.5385/nm.2020.27.4.207
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- Article
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.
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- Human Mutation, 2006, v. 27, n. 6, p. 599, doi. 10.1002/humu.9423
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- Article
Prenatal diagnosis of 45,X/46,XY mosaicism with postnatal confirmation in a phenotypically normal male infant.
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- Clinical Genetics, 1976, v. 10, n. 4, p. 232, doi. 10.1111/j.1399-0004.1976.tb00040.x
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- Article
TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions.
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- Oncology Reports, 2014, v. 32, n. 4, p. 1347, doi. 10.3892/or.2014.3379
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- Article