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INSTRUCTIONS
FOR
QUERYING THE CATALOGUE
The
catalogue including the list of the pathologies with respective OMIM
numbers, availability of the samples and details about the selected
sample, can be queried at different linked levels.
By selecting a specific disease from the diagnosis list access is
enabled to the second level, sample list, where the availability of
the samples for that specific disease is listed. The selection of a
specific sample activates the third level, sample characteristics
page, where further details concerning that sample are available.
A brief search fields-glossary is available.
Other links are possible (e.g. Online Mendelian Inheritance in Man,
PubMed Service of National Library of Medicine…..)
Search
Fields-Glossary
| Code
Number |
Unique
number assigned to each specimen in the Biobank |
| OMIM |
Number assigned to a disease in the standard
reference Mendelian Inheritance in Man |
| Sample
Type |
Type of sample available, e.g., lymphoblast,
fibroblast |
| Other samples |
Availability of other possible samples |
| Phenotype |
Affected - apparently non affected |
| Status |
Proband or relative |
| Family Number |
A number assigned to link all family
members together |
| Relation
to Proband |
Relationship of the donor-subject to the
proband |
| Reference |
Scientific report obtained using the sample |
| NA |
Not
available |
Site
by Dr. Mirella Filocamo
Weekly update by Lucia Obino
Telethon
grants have made this site possible
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© 2001 TTA srl. Genova - All rights reserved.
Last update: 22/04/04
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