Results 1 -
10
of
76
for
Weber test
- ... Condition CD105 EGLN_HUMAN END endoglin (Osler-Rendu-Weber syndrome 1) endoglin precursor HHT1 ORW ORW1 Transforming Growth Factor P Receptor III Tests of ENG PubMed ENDOGLIN; ENG NCBI Gene ClinVar ...
- ... FLJ17146 KIAA1988 NAIC testis expressed gene 292 TEX292 Tests of UTP4 PubMed UTP4 SMALL SUBUNIT PROCESSOME COMPONENT; UTP4 NCBI Gene ClinVar Betard C, Rasquin-Weber A, Brewer C, Drouin E, Clark S, Verner ...
- ... is often a family history of this condition. Tests include: Blood gas tests Blood tests Imaging test of the heart called an echocardiogram ...
- ... 5 collagen, type IV, alpha 5 (Alport syndrome) Tests of COL4A5 PubMed COLLAGEN, TYPE IV, ALPHA-5; COL4A5 NCBI Gene ClinVar Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M. Meta-analysis of genotype-phenotype correlation in ...
- ... maculopathy susceptibility protein 2 ARMD8 ARMS2_HUMAN LOC387715 Tests of ARMS2 PubMed ARMS2 GENE; ARMS2 NCBI Gene ClinVar Friedrich U, Myers CA, Fritsche LG, Milenkovich A, Wolf A, Corbo JC, Weber BH. Risk- and non-risk-associated variants at ...
- Sturge-Weber syndrome (SWS) is a rare disorder that is present at birth. A child with this condition will ... In many people, the cause of Sturge-Weber is due to a mutation of ... small blood vessels called capillaries in some but not all body ...
- ... will look at your skin to diagnose EB. Tests that are used to confirm the diagnosis include: Genetic testing Skin biopsy Special tests of skin samples under a microscope Skin tests ...
- ... TBP Transcription Initiation Factor TFIID 250 kDa Subunit Tests of TBP PubMed TATA BOX-BINDING PROTEIN; TBP NCBI Gene ClinVar Bauer P, Laccone F, Rolfs A, Wullner U, Bosch S, Peters H, Liebscher S, Scheible M, Epplen JT, Weber BH, Holinski-Feder E, Weirich-Schwaiger H, Morris- ...
- ... on the face may be associated with Sturge-Weber syndrome. They are most often located on the face. Their size varies from very small to over half of the body's surface.
- ... maps of the human genome. Chromosome 9. Genet Test. 2001 Summer;5(2):157-74. doi: ... RG. Comprehensive characterization of genomic aberrations in gangliogliomas ...