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Documents 1-25 out of 49 found
  Current Search:  albin: 31, deaf: 121, syndrom: 3641  

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TBL1X Recombinant Protein (Q01) Abnova-World Largest Monoclonal Antibody and Recombinant Protein Bank
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author: Abnova
Matching: albin deaf Find similar documents
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TJL BSS Panel: Chr X refs
Defects in the cappuccino (cno) gene on mouse cgromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism.
Isolation and characterization of a mouse homolog of the X-linked Ocular Albinism (OA1) gene.
Melanoma cDNA, mouse homolg of X-linked Ocular Albinism (OA1) gene.

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Luanne Peters Staff Research Page - The Jackson Laboratory
In one of the most severe forms of SPD, Hermansky-Pudlak syndrome (HPS), defects in developmentally related organelles, melanosomes and lysosomes result in albinism and lysosomal storage disease, respectively, in addition to the bleeding diathesis.
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http://www.clontech.com/clontech/atlas/genelists/7903-1_HuGlass38I.pdf page 166
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updated: 13/03/2002 matching: albin syndrom
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http://www.clontech.com/clontech/atlas/genelists/7903-1_HuGlass38I.pdf page 110
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updated: 13/03/2002 matching: albin syndrom
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http://www.clontech.com/clontech/atlas/genelists/7903-1_7904-1_HuGlass38.txt
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article ID: updated: 16/05/2001 matching: albin syndrom
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TIMM8A Recombinant Protein (P01)-Abnova Corporation
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author: Abnova
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TECTA Recombinant Protein (Q01) Abnova-World Largest Monoclonal Antibody and Recombinant Protein Bank
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author: Abnova
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SLC26A4 Recombinant Protein (Q01) Abnova-World Largest Monoclonal Antibody and Recombinant Protein Bank
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author: Abnova
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EML1 Recombinant Protein (Q01) Abnova-World Largest Monoclonal Antibody and Recombinant Protein Bank
Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type.
author: Abnova
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TIMM8A Recombinant Protein (Q01) Abnova-World Largest Monoclonal Antibody and Recombinant Protein Bank
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author: Abnova
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CDH23 Recombinant Protein (Q01) Abnova-World Largest Monoclonal Antibody and Recombinant Protein Bank
The gene is located in a region containing the human deafness loci DFNB12 and USH1D.
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this novel cadherin-like gene.

author: Abnova
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COL11A2 Recombinant Protein (Q01) Abnova-World Largest Monoclonal Antibody and Recombinant Protein Bank
Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, and autosomal dominant nonsyndromic sensorineural 13 deafness.
author: Abnova
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PAX3 Recombinant Protein (Q01) Abnova-World Largest Monoclonal Antibody and Recombinant Protein Bank
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author: Abnova
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WDR4 Recombinant Protein (P01) Abnova-World Largest Monoclonal Antibody and Recombinant Protein Bank
This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes.
author: Abnova
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GJB3 Recombinant Protein (P01) Abnova-World Largest Monoclonal Antibody and Recombinant Protein Bank
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author: Abnova
Matching: deaf syndrom Find similar documents
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Lab Vision Corporation
This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but it is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes.
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Whitney Reid - The Jackson Laboratory
Chronic Otitis media can cause deafness, speech problems, meningitis and bactermia.
People with Otitis media share several common characteristics: sibling history of frequent ear infections, Down’s syndrome, cleft palate and immune deficiency.

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Microsoft Word - Document22
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author: Jan D. Marshall updated: 22/03/2006 matching: deaf syndrom
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Microsoft Word - Document20
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author: Jan D. Marshall updated: 22/03/2006 matching: deaf syndrom
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Alstrom Syndrome Conference Report
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author: J rgen Naggert subject: Alstrom Syndrome Conference Report updated: 22/03/2006 matching: deaf syndrom
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Alstrom Syndrome Conference Report page 16
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author: J rgen Naggert subject: Alstrom Syndrome Conference Report updated: 22/03/2006 matching: deaf syndrom
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Alstrom Syndrome Conference Report page 3
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author: J rgen Naggert subject: Alstrom Syndrome Conference Report updated: 22/03/2006 matching: deaf syndrom
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Retinal Degeneration 3 - The Jackson Laboratory
- Retinal Degeneration Genes Cataracts Other Mouse Models Screening FAQ Resources Picture Gallery About Dr.
rd3 was proposed as a candidate gene for orthology to human USH2A (OMIM 276901), which causes a mild form of Usher syndrome deafness.

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master_table - The Jackson Laboratory
KO - tm semicircular canal defects [253] Ntf3 neurotrophin 3 6 61 KO - tm hair cell innervation [86, 92, 99] Ntn1 netrin 1 U - KO - tm semicircular canal formation; homozygous lethal [270] Ntrk2 neurotrophic tyrosine kinase, receptor, type 2 13 36 KO - tm hair cell innervation [98, 276] - homozygous lethal Ntrk3 neurotrophic tyrosine kinase, receptor, type 3 7 39 KO - tm hair cell...
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