Found: 9
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Homozygous factor V Leiden mutation in a woman with multiple adverse pregnancy outcomes.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation – a family study.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 3, p. 279, doi. 10.1111/j.1399-0004.2008.01022.x
- By:
- Publication type:
- Article
Alternative splicing, chromosome assignment and subcellular localization of the testicular haploid expressed gene (THEG).
- Published in:
- Cytogenetics & Cell Genetics, 2000, v. 91, n. 1-4, p. 171, doi. 10.1159/000056840
- By:
- Publication type:
- Article
Chromosomal localization<FOOTREF>[sup 1] </FOOTREF> of the human cytoplasmic dynein heavy chain gene DNCH2 to 11q21→q22.1.
- Published in:
- Cytogenetics & Cell Genetics, 1998, v. 82, n. 1/2, p. 123, doi. 10.1159/000015085
- By:
- Publication type:
- Article
Sequential combination of azacitidine and lenalidomide in del(5q) higher-risk myelodysplastic syndromes or acute myeloid leukemia: a phase I study.
- Published in:
- Leukemia (08876924), 2013, v. 27, n. 6, p. 1403, doi. 10.1038/leu.2013.26
- By:
- Publication type:
- Article
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Genomic organisation and chromosomal assignment of Odf2 (outer dense fiber 2), encoding the main component of sperm tail outer dense fibers and a centrosomal scaffold protein.
- Published in:
- Cytogenetic & Genome Research, 2003, v. 103, n. 1/2, p. 122, doi. 10.1159/000076299
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- Publication type:
- Article
Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus (Communicated by Stylianos Antonarakis) Online Citation: Human Mutation, Mutation in Brief #676 (2003) Online http://www.interscience.wiley.com/homepages/38515/pdf/mutation/676.pdf)
- Published in:
- Human Mutation, 2004, v. 23, n. 1, p. 98, doi. 10.1002/humu.9205
- By:
- Publication type:
- Article
Mutation analysis of the spastin gene ( SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.
- Published in:
- Human Mutation, 2002, v. 20, n. 2, p. 127, doi. 10.1002/humu.10105
- By:
- Publication type:
- Article