Found: 15
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Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.
- Published in:
- Journal of Human Genetics, 1999, v. 44, n. 1, p. 48, doi. 10.1007/s100380050106
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- Publication type:
- Article
Gonadoblastoma, mixed germ cell tumor, and Y chromosomal genotype: Molecular analysis in four patients.
- Published in:
- Genes, Chromosomes & Cancer, 1999, v. 25, n. 1, p. 40, doi. 10.1002/(SICI)1098-2264(199905)25:1<40::AID-GCC6>3.0.CO;2-8
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- Publication type:
- Article
Dispermic origin of XY hydatidiform moles.
- Published in:
- Nature, 1981, v. 292, n. 5823, p. 551, doi. 10.1038/292551a0
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- Publication type:
- Article
Haploinsufficiency of NSD1 causes Sotos syndrome.
- Published in:
- Nature Genetics, 2002, v. 30, n. 4, p. 365, doi. 10.1038/ng863
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- Publication type:
- Article
Three novel fibrillin mutations in exons 25 and 27: Classic versus neonatal Marfan syndrome.
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 359, doi. 10.1002/(SICI)1098-1004(1997)9:4<359::AID-HUMU10>3.0.CO;2-1
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- Publication type:
- Article
Mucopolysaccharidosis IVA: Submicroscopic deletion of 16q24.3 and a novel R386C mutation of n-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
- Published in:
- Human Mutation, 1996, v. 7, n. 2, p. 123, doi. 10.1002/(SICI)1098-1004(1996)7:2<123::AID-HUMU6>3.0.CO;2-D
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- Publication type:
- Article
Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 6, p. 466, doi. 10.1034/j.1399-0004.1999.550612.x
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- Publication type:
- Article
Male with type II autosomal recessive cutis laxa.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 1, p. 40, doi. 10.1111/j.1399-0004.1994.tb03988.x
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- Publication type:
- Article
Occipital horn syndrome: report of a patient and review of the literature.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 1, p. 32, doi. 10.1111/j.1399-0004.1994.tb03986.x
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- Publication type:
- Article
A nude mouse Wilms' tumor line (KCMC-WT-1) derived from an aniridia patient with monoalleleic partial deletion of chromosome 11p.
- Published in:
- 1996
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- Publication type:
- journal article
Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations.
- Published in:
- Annals of Neurology, 1999, v. 45, n. 5, p. 624, doi. 10.1002/1531-8249(199905)45:5<624::AID-ANA11>3.0.CO;2-1
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- Publication type:
- Article
Tumor cell lysis syndrome resulting from transient abnormal myelopoiesis in a neonate with Down’s syndrome.
- Published in:
- Pediatrics International, 2001, v. 43, n. 1, p. 84, doi. 10.1046/j.1442-200X.2001.01333.x
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- Publication type:
- Article
The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2479, doi. 10.1093/hmg/8.13.2479
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- Publication type:
- Article
Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 4, p. 607
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- Publication type:
- Article
Prenatal Diagnosis of Duchenne Muscular Dystrophy (DMD) by the Polymerase Chain Reaction (PCR).
- Published in:
- Congenital Anomalies, 1992, v. 32, n. 3, p. 179, doi. 10.1111/j.1741-4520.1992.tb00249.x
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- Publication type:
- Article