Found: 22
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The value of countrywide mutation reporting.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. v, doi. 10.1002/humu.21262
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- Publication type:
- Article
Toward a cellular model of microvillus inclusion disease.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. v, doi. 10.1002/humu.21263
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- Publication type:
- Article
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. 505, doi. 10.1002/humu.21232
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- Publication type:
- Article
Genetic analysis of von Hippel-Lindau disease.
- Published in:
- 2010
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- Publication type:
- Other
The acquisition of an inheritable 50-bp deletion in the human mtDNA control region does not affect the mtDNA copy number in peripheral blood cells.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. 538, doi. 10.1002/humu.21220
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- Publication type:
- Article
Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. 544, doi. 10.1002/humu.21224
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- Publication type:
- Article
Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. 552, doi. 10.1002/humu.21223
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- Publication type:
- Article
Multiple LRRK2 variants modulate risk of Parkinson disease: a chinese multicenter study.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. 561, doi. 10.1002/humu.21225
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- Publication type:
- Article
Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. 569, doi. 10.1002/humu.21228
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- Publication type:
- Article
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of lynch syndrome patients.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. 578, doi. 10.1002/humu.21229
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- Publication type:
- Article
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. 588, doi. 10.1002/humu.21230
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- Publication type:
- Article
Jagged1 ( JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. 594, doi. 10.1002/humu.21231
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- Publication type:
- Article
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA<sub>1</sub>α in autosomal recessive hypotrichosis.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. 602, doi. 10.1002/humu.21235
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- Publication type:
- Article
Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. 611, doi. 10.1002/humu.21237
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- Publication type:
- Article
Functional evaluation of paraplegin mutations by a yeast complementation assay.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. 617, doi. 10.1002/humu.21226
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- Publication type:
- Article
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. E1319, doi. 10.1002/humu.21239
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- Publication type:
- Article
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. E1332, doi. 10.1002/humu.21233
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- Publication type:
- Article
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. E1348, doi. 10.1002/humu.21234
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- Publication type:
- Article
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. E1361, doi. 10.1002/humu.21236
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- Publication type:
- Article
De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. E1377, doi. 10.1002/humu.21241
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- Publication type:
- Article
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. E1390, doi. 10.1002/humu.21243
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- Publication type:
- Article
EYS is a major gene for rod-cone dystrophies in France.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. E1406, doi. 10.1002/humu.21249
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- Publication type:
- Article