Found: 25
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Identification of a 5′ splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 5, p. 527, doi. 10.1023/A:1005632818722
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- Publication type:
- Article
Delineation of clinical features in Wiedemann--Steiner syndrome caused by KMT2A mutations.
- Published in:
- Clinical Genetics, 2016, v. 89, n. 1, p. 115, doi. 10.1111/cge.12586
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- Publication type:
- Article
A 4-Mb critical region for intrauterine growth retardation at 15q26.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 4, p. 340, doi. 10.1034/j.1399-0004.2002.620416.x
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- Publication type:
- Article
A 4q21-q22 deletion in a girl with severe growth retardation.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 3, p. 226, doi. 10.1034/j.1399-0004.2002.610311.x
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- Publication type:
- Article
Trisomy 13/trisomy 18 mosaicism in an infant.
- Published in:
- Clinical Genetics, 1996, v. 50, n. 5, p. 300, doi. 10.1111/j.1399-0004.1996.tb02378.x
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- Publication type:
- Article
A Case of Neonatal McCune-Albright Syndrome with Cushing Syndrome and Hyperthyroidism.
- Published in:
- Acta Paediatrica, 1991, v. 80, n. 10, p. 984, doi. 10.1111/j.1651-2227.1991.tb11769.x
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- Publication type:
- Article
A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway.
- Published in:
- Journal of Human Genetics, 2002, v. 47, n. 9, p. 478, doi. 10.1007/s100380200069
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- Publication type:
- Article
Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.
- Published in:
- Journal of Human Genetics, 2002, v. 47, n. 8, p. 395, doi. 10.1007/s100380200057
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- Publication type:
- Article
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.
- Published in:
- Journal of Human Genetics, 2002, v. 47, n. 3, p. 136, doi. 10.1007/s100380200015
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- Publication type:
- Article
DNA-based prenatal carrier detection for group A xeroderma pigmentosum in a chorionic villus sample.
- Published in:
- 1995
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- Publication type:
- journal article
PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse.
- Published in:
- Human Genetics, 2003, v. 112, n. 5/6, p. 573, doi. 10.1007/s00439-003-0917-5
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- Publication type:
- Article
The structural organization of the human aldehyde reductase gene, AKR1A1, and mapping to chromosome 1p33→p32.
- Published in:
- Cytogenetic & Genome Research, 1999, v. 84, n. 1/2, p. 230, doi. 10.1159/000015265
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- Publication type:
- Article
Mapping of the α-1,6-fucosyltransferase gene, FUT8, to human chromosome 14q24.3.
- Published in:
- Cytogenetic & Genome Research, 1999, v. 84, n. 1/2, p. 58, doi. 10.1159/000015215
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- Publication type:
- Article
Assignment<FOOTREF>[sup 1] </FOOTREF> of the programmed cell death 4 gene (PDCD4) to human chromosome band 10q24 by in situ hybridization.
- Published in:
- Cytogenetics & Cell Genetics, 1999, v. 87, n. 1/2, p. 113, doi. 10.1159/000015408
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- Publication type:
- Article
The structural organization of the human aldehyde reductase gene, AKR1A1, and mapping to chromosome 1p33→p32.
- Published in:
- Cytogenetics & Cell Genetics, 1999, v. 84, n. 3/4, p. 230, doi. 10.1159/000015265
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- Publication type:
- Article
Mapping of the α-1,6-fucosyltransferase gene, FUT8, to human chromosome 14q24.3.
- Published in:
- Cytogenetics & Cell Genetics, 1999, v. 84, n. 1/2, p. 58, doi. 10.1159/000015215
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- Publication type:
- Article
A Novel Missense Mutation in Van der Woude Syndrome: Usefulness of Fingernail DNA for Genetic Analysis.
- Published in:
- Journal of Dental Research, 2006, v. 85, n. 12, p. 1143, doi. 10.1177/154405910608501215
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- Publication type:
- Article
Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 8, p. 837, doi. 10.1093/hmg/ddg106
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- Publication type:
- Article
A tetraploid liveborn neonate.
- Published in:
- 2003
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- Publication type:
- Journal Article
The Coffin-Lowry Syndrome: Four New Cases In Three Families.
- Published in:
- Pediatrics International, 1983, v. 25, n. 3, p. 298, doi. 10.1111/j.1442-200X.1983.tb01701.x
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- Publication type:
- Article
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.
- Published in:
- Human Molecular Genetics, 1992, v. 1, n. 9, p. 784
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- Publication type:
- Article
DNA deletion in patients with von Recklinghausen neurofibromatosis.
- Published in:
- Clinical Genetics, 1992, v. 42, n. 1, p. 53, doi. 10.1111/j.1399-0004.1992.tb03138.x
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- Publication type:
- Article
XY translocation in a boy with ichthyosis, hypogonadism, short stature and mental retardation.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 2, p. 156, doi. 10.1111/j.1399-0004.1991.tb03004.x
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- Publication type:
- Article
Letter to the Editors.
- Published in:
- Clinical Genetics, 1983, v. 24, n. 4, p. 280, doi. 10.1111/j.1399-0004.1983.tb00083.x
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- Publication type:
- Article
The dermatoglyphic pattern of the Kabuki make-up syndrome.
- Published in:
- Clinical Genetics, 1982, v. 21, n. 5, p. 315, doi. 10.1111/j.1399-0004.1982.tb01378.x
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- Publication type:
- Article