source DB |
source ID
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text
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size
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# proj.
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# Ann.
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updated_at |
PubMed |
10323252 |
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifu |
1.63 KB |
2015-11-15 |
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17 |
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7 |
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PubMed |
10382910 |
Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy.
X-linked Emery-Dreifuss mu |
782 Bytes |
2015-11-15 |
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16 |
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0 |
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PubMed |
10406661 |
Small deletions in the type II collagen triple helix produce kniest dysplasia.
Kniest dysplasia is a |
1.5 KB |
2015-11-15 |
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17 |
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4 |
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PubMed |
10426139 |
A novel frameshift mutation in the McLeod syndrome gene in a Japanese family.
We report a novel muta |
723 Bytes |
2015-11-21 |
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15 |
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1 |
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PubMed |
10441571 |
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.
The PAX6 gene |
1.49 KB |
2015-11-21 |
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17 |
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1 |
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PubMed |
10465113 |
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layer |
1.75 KB |
2015-11-21 |
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18 |
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5 |
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PubMed |
10466420 |
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of dia |
756 Bytes |
2015-11-15 |
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18 |
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1 |
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PubMed |
10472529 |
Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mu |
1.08 KB |
2015-11-15 |
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18 |
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0 |
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PubMed |
10480214 |
Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion.
A boy |
861 Bytes |
2015-11-15 |
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17 |
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2 |
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PubMed |
10484772 |
Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the N |
1.1 KB |
2015-11-15 |
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17 |
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6 |
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