Found: 15
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Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
- Published in:
- Human Genetics, 2006, v. 118, n. 5, p. 578, doi. 10.1007/s00439-005-0072-2
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- Article
Detailed marker chromosome analysis in cell line U-BLC1, established from transitional-cell carcinoma of the bladder.
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- International Journal of Cancer, 1999, v. 80, n. 6, p. 903, doi. 10.1002/(SICI)1097-0215(19990315)80:6<903::AID-IJC17>3.0.CO;2-8
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- Article
Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles.
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- Science Translational Medicine, 2020, v. 12, n. 547, p. 1, doi. 10.1126/scitranslmed.aaz3267
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- Article
Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia.
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- Sexual Development, 2015, v. 9, n. 3, p. 136, doi. 10.1159/000430897
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- Article
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.
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- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1010, doi. 10.1038/ejhg.2008.269
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- Article
An excess of chromosome 1 breakpoints in male infertility.
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- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 993, doi. 10.1038/sj.ejhg.5201263
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- Article
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
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- Nature Genetics, 2014, v. 46, n. 11, p. 1239, doi. 10.1038/ng.3103
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- Article
Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge.
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- Clinical Epigenetics, 2017, v. 9, p. 1, doi. 10.1186/s13148-017-0410-y
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- Article
Interstitial deletion del(10)(q25.2q25.3 ∼ 26.11)-case report and review of the literature.
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- Prenatal Diagnosis, 2005, v. 25, n. 10, p. 954, doi. 10.1002/pd.1252
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- Article
False-negative findings in chorionic villus sampling. An experimental approach and review of the literature.
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- Prenatal Diagnosis, 1998, v. 18, n. 12, p. 1276, doi. 10.1002/(SICI)1097-0223(199812)18:12<1276::AID-PD445>3.0.CO;2-U
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- Article
Cytogenetic diagnoses after chorionic villus sampling are less reliable in very-high- or very-low-risk pregnancies.
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- Prenatal Diagnosis, 1993, v. 13, n. 10, p. 929, doi. 10.1002/pd.1970131007
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- Article
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
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- Human Genetics, 2015, v. 134, n. 1, p. 45, doi. 10.1007/s00439-014-1487-4
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- Article
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1202, doi. 10.1002/ajmg.a.37560
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- Article
FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons.
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- Frontiers in Cellular Neuroscience, 2016, v. 10, p. 1, doi. 10.3389/fncel.2016.00290
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- Article
An unusual variant chromosome 9 due to disturbance of normal chromatin condensation at band p12?
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- Clinical Genetics, 1986, v. 30, n. 1, p. 80, doi. 10.1111/j.1399-0004.1986.tb00573.x
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- Article