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Pathogenicity Decision Pathway in Tuberous Sclerosis Complex - Rosema…

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Pathogenicity Decision Pathway in Tuberous Sclerosis Complex Rosemary Ekong, Yoan Diekmann, Sue Povey Special Features of Tuberous ...

Pathogenicity Decision Pathway in Tuberous Sclerosis Complex ...

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Rosemary Ekong, Yoan Diekmann, Sue Povey. Special Features of Tuberous sclerosis complex (TSC) Cause: Inactivating variants in TSC1 and TSC2Clinical ...

Biochemical Characterisation of TSC1 and TSC2 Variants Identified in ...

www.dtic.mil

Marianne Hoogeveen-Westerveld. 1. , David Kwiatkowski. 2. , Julian. Sampson. 3. , Rosemary Ekong. 4. , Sue Povey. 4. , Johan den Dunnen. 5.

Identification of a region required for TSC1 stability by functional...

bmcmedgenet.biomedcentral.com

Melika Mozaffari 1, Marianne Hoogeveen-Westerveld 1, David Kwiatkowski 2, Julian Sampson 3, Rosemary Ekong 4, Sue Povey 4, Johan T den Dunnen 5, Ans van den …

Identification of a region required for TSC1 stability by functional...

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Rosemary Ekong (4) Sue Povey (4) Johan T den Dunnen (5) Ans van den Ouweland (1) Dicky Halley (1) Mark Nellist (1) Author Affiliations. 1. Department of Clinical ...

Oalib search

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Melika Mozaffari, Marianne Hoogeveen-Westerveld, David Kwiatkowski, Julian Sampson, Rosemary Ekong, Sue Povey, Johan T den ...

All web results to the name "Rosemary Ekong"

Cartographie et Diagnostic Génétiques

www.chem.ucla.edu

En collaboration avec Rosemary Ekong et Sophie Rousseaux, du groupe du Pr Sue Povey, du Medical Research Council de Londres, nous avons ainsi ...

Volume 9 Issue 2 | Clinical Kidney Journal | Oxford Academic

academic.oup.com

Rosemary Ekong, Sue Povey, and Robert J. Unwin; Persistent severe polyuria after renal transplant Clin Kidney J (2016) 9 (2): first published online October ...

Identification of a region required for TSC1 stability by ...

go.gale.com

Authors: Melika Mozaffari [1]; Marianne Hoogeveen-Westerveld [1]; David Kwiatkowski [2]; Julian Sampson [3]; Rosemary Ekong [4]; Sue Povey [4]; Johan T den ...

Human Genome Variation Society

www.hgvs.org

TSC2, tuberous sclerosis 2, · TSC2 Mutation Database, Sue Povey & Rosemary Ekong, Galton Laboratory, Biology, University. SLC25A6, solute carrier ...

In Memoriam: Margaret Susan (Sue) Povey, 1942– TS ...

www.tscalliance.org

Arguably most importantly she set up and supervised the LOVD TSC mutation database for the past 15 years, maintained by Rosemary Ekong. This resource is ...

Search form - Human Genome Variation Societywww.hgvs.org › locus-specific-mutation-databases

www.hgvs.org

TSC1, tuberous sclerosis 1, · TSC Mutation Database, Sue Povey & Rosemary Ekong, Galton Laboratory, Biology, University ...

Locus Specific Database list

grenada.lumc.nl

Tuberous sclerosis database http://chromium.lovd.nl/LOVD2/TSC/home.php?select_db=TSC2, Sue Povey & Rosemary Ekong Dept. of Genetics, Evolution ...

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