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PubMed |
15773749 |
Genetics of laminopathies.
Laminopathies are now recognized as a group of disorders due to mutations |
11 |
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PubMed |
15773758 |
Mutations in the mouse Lmna gene causing progeria, muscular dystrophy and cardiomyopathy.
At least t |
9 |
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PubMed |
15790988 |
Association of tumour necrosis factor alpha variants with the CF pulmonary phenotype.
BACKGROUND: Th |
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PubMed |
15794178 |
Study of multimodal evoked potentials in patients with type 1 Gaucher's disease.
To detect early sub |
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PubMed |
15824798 |
[Myotonic dystrophy type 1 in cataract patients: molecular diagnosis for screening and genetic couns |
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PubMed |
15833424 |
A rapid PCR method for genotyping the Large(myd) mouse, a model of glycosylation-deficient congenita |
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PubMed |
15834242 |
Fragile X syndrome carrier screening in the prenatal genetic counseling setting.
PURPOSE: To documen |
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PubMed |
15835282 |
Huntington's disease like-2: review and update.
Huntington's Disease-like 2 (HDL2), like Huntington' |
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PubMed |
15842522 |
A case of novel de novo paired box gene 6 (PAX6) mutation with early-onset diabetes mellitus and ani |
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PubMed |
15857086 |
A novel mutation of the cathepsin C gene in a thai family with Papillon-Lefevre syndrome.
BACKGROUND |
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