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Documents FoulkesLi2015-PMS2_founder_mismatch_repair

1. SHORT REPORT A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype Lili Li,1,2 Nancy Hamel,1,3 Kristi Baker,4,5 Michael…

Documents Actualité dans le traitement pharmacologique de l’Ataxie Télangiectasie Current therapeutic...

Slide 1 Actualité dans le traitement pharmacologique de l’Ataxie Télangiectasie Current therapeutic strategies for the treatment of Ataxia- Telangiectasia Università…

Documents Promotion of tumorigenesis by heterozygous disruption of the beclin 1 autophagy gene

Promotion of tumorigenesis by heterozygous disruption of the beclin 1 autophagy gene The journal of Clinical Investigation 112:1809-1820 (2003) Lien Hsu Outlines Introduction----…

Documents Promotion of tumorigenesis by heterozygous disruption of the beclin 1 autophagy gene The journal of....

Promotion of tumorigenesis by heterozygous disruption of the beclin 1 autophagy gene The journal of Clinical Investigation 112:1809-1820 (2003) Lien Hsu Outlines Introduction----…

Documents Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence

Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus AutofluorescenceAtrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence

Documents AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for.....

AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorderAAV-mediated PEX1 gene augmentation improves

Documents Mechanisms of Erythropoietic Failure in Shwachman Diamond Syndrome Caused by Loss of the...

Microsoft Word - Saswati Sen - MSC Thesis-1Mechanisms of Erythropoietic Failure in Shwachman Diamond Syndrome Caused by Loss of the Ribosome- Related Protein, SBDS Saswati