Found: 11
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A case of Prader - Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13).
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 60, doi. 10.1111/j.1399-0004.1998.tb03695.x
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- Article
DEFICYT FOSFORYBOZYLOTRANSFERAZY HIPOKSANTYNOGUANINOWEJ - KLINICZNA, BIOCHEMICZNA ORAZ MOLEKULARNA CHARAKTERYSTYKA PACJENTÓW.
- Published in:
- Przeglad Pediatryczny, 2008, v. 38, n. 3, p. 227
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- Publication type:
- Article
Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 492, doi. 10.1038/sj.ejhg.5200213
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- Article
Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.
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- Acta Neuropathologica, 2010, v. 119, n. 3, p. 325, doi. 10.1007/s00401-009-0608-y
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- Article
Carrier frequency of mutation 657del5 in the NBS1 gene in a population of polish pediatric patients with sporadic lymphoid malignancies.
- Published in:
- International Journal of Cancer, 2006, v. 118, n. 5, p. 1269, doi. 10.1002/ijc.21439
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- Article
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency in Poland.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 373, doi. 10.1007/s10545-010-9190-7
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- Article
Xp21.2 contiguous gene syndrome due to deletion involving glycerol kinase and Duchenne muscular dystrophy loci.
- Published in:
- 2010
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- Publication type:
- Letter
The frequency of NBN molecular variants in pediatric astrocytic tumors.
- Published in:
- Journal of Neuro-Oncology, 2010, v. 96, n. 2, p. 161, doi. 10.1007/s11060-009-9958-5
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- Article
Twelve novel JAG1 gene mutations in polish Alagille syndrome patients.
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 321, doi. 10.1002/humu.9313
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- Article
Mutations of the iduronate-2-sulfatase gene in 12 Polish. Patients with mucopolysaccharidosis type II (Hunter syndrome).
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- Human Mutation, 1995, v. 5, n. 1, p. 97, doi. 10.1002/humu.1380050114
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- Publication type:
- Article
Distribution of Mutations in the PEX Gene in Families with X-linked Hypophosphataemic Rickets (HYP).
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 4, p. 539, doi. 10.1093/hmg/6.4.539
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- Publication type:
- Article