Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 21
Results: 17
Efficiency and consistency of haplotype tagging of dense SNP maps in multiple samples.
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- Human Molecular Genetics, 2004, v. 13, n. 21, p. 2557, doi. 10.1093/hmg/ddh294
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- Article
Correction of aberrant FGFR1 alternative RNA splicing through targeting of intronic regulatory elements.
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- Human Molecular Genetics, 2004, v. 13, n. 21, p. 2725, doi. 10.1093/hmg/ddh297
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- Article
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect.
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- Human Molecular Genetics, 2004, v. 13, n. 21, p. 2547, doi. 10.1093/hmg/ddh296
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- Article
Decreased mechanical stiffness in LMNA−/− cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies.
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- Human Molecular Genetics, 2004, v. 13, n. 21, p. 2567, doi. 10.1093/hmg/ddh295
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- Article
Reduced KIAA0471 mRNA expression in Alzheimer's patients: a new candidate gene product linked to the disease?
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- Human Molecular Genetics, 2004, v. 13, n. 21, p. 2607, doi. 10.1093/hmg/ddh293
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- Article
Requirement of the forkhead gene Foxe1, a target of sonic hedgehog signaling, in hair follicle morphogenesis.
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- Human Molecular Genetics, 2004, v. 13, n. 21, p. 2595, doi. 10.1093/hmg/ddh292
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- Article
Muscle weakness in a mouse model of nemaline myopathy can be reversed with exercise and reveals a novel myofiber repair mechanism.
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- Human Molecular Genetics, 2004, v. 13, n. 21, p. 2633, doi. 10.1093/hmg/ddh285
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- Article
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.
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- Human Molecular Genetics, 2004, v. 13, n. 21, p. 2679, doi. 10.1093/hmg/ddh282
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- Article
Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse.
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- Human Molecular Genetics, 2004, v. 13, n. 21, p. 2709, doi. 10.1093/hmg/ddh281
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Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia.
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- Human Molecular Genetics, 2004, v. 13, n. 21, p. 2699, doi. 10.1093/hmg/ddh280
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- Article
Relaxation of selective constraint and loss of function in the evolution of human bitter taste receptor genes.
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- Human Molecular Genetics, 2004, v. 13, n. 21, p. 2671, doi. 10.1093/hmg/ddh289
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- Article
Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts.
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- Human Molecular Genetics, 2004, v. 13, n. 21, p. 2581, doi. 10.1093/hmg/ddh291
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- Article
Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.
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- Human Molecular Genetics, 2004, v. 13, n. 21, p. 2625, doi. 10.1093/hmg/ddh284
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- Article
Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith–Magenis syndrome.
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- Human Molecular Genetics, 2004, v. 13, n. 21, p. 2613, doi. 10.1093/hmg/ddh288
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- Article
Functionally significant SNP MMP8 promoter haplotypes and preterm premature rupture of membranes (PPROM).
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- Human Molecular Genetics, 2004, v. 13, n. 21, p. 2659, doi. 10.1093/hmg/ddh287
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- Article
A cladistic model of ACE sequence variation with implications for myocardial infarction, Alzheimer disease and obesity.
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- Human Molecular Genetics, 2004, v. 13, n. 21, p. 2647, doi. 10.1093/hmg/ddh286
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- Article
Sequence variants of the gene encoding chemoattractant receptor expressed on Th2 cells (CRTH2) are associated with asthma and differentially influence mRNA stability.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 21, p. 2691, doi. 10.1093/hmg/ddh279
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- Article