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Gene map of the extended human MHC

Nature reviews. Genetics, 2004-12, Vol.5 (12), p.889-899

2004

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The 2014 International Workshop on Alport Syndrome

Kidney international, 2014-10, Vol.86 (4), p.679-684

2014

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Dynamic Molecular Combing: Stretching the Whole Human Genome for High-Resolution Studies

Science (American Association for the Advancement of Science), 1997-09, Vol.277 (5331), p.1518-1523

1997

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E. B. Robson, PhD (1928‐ 2016). Galton Professor of Human Genetics, University College London and Editor‐in‐Chief of the Annals of Human Genetics, died July 18th 2016

Annals of human genetics, 2017-07, Vol.81 (4), p.174-175

2017

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E. B. Robson, PhD (1928- 2016). Galton Professor of Human Genetics, University College London and Editor-in-Chief of the Annals of Human Genetics, died July 18th 2016: Obituary

Annals of human genetics, 2017-07, Vol.81 (4), p.174-175

2017

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Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex

BMC medical genetics, 2009-09, Vol.10 (1), p.88-88

2009

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Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Pediatric neurology, 2013-10, Vol.49 (4), p.255-265

2013

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HCOP: the HGNC comparison of orthology predictions search tool

Mammalian genome, 2005-11, Vol.16 (11), p.827-828

2005

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The HGNC Database in 2008: a resource for the human genome

Nucleic acids research, 2008-01, Vol.36 (Database issue), p.D445-D448

2008

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Mutation Databases for Inherited Renal Disease: Are They Complete, Accurate, Clinically Relevant, and Freely Available?

Human mutation, 2014-07, Vol.35 (7), p.791-793

2014

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The Gene Ontology project in 2008

Nucleic acids research, 2008-01, Vol.36 (Database issue), p.D440-D444

2008

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Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings

Human mutation, 2020-04, Vol.41 (4), p.759-773

2020

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The HUGO Gene Nomenclature Committee (HGNC)

Human genetics, 2001-12, Vol.109 (6), p.678-680

2001

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Rare single gene disorders: estimating baseline prevalence and outcomes worldwide

Journal of community genetics, 2018-10, Vol.9 (4), p.397-406

2018

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The HUGO Gene Nomenclature Database, 2006 updates

Nucleic acids research, 2006-01, Vol.34 (Database issue), p.D319-D321

2006

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Editorial Note

Annals of human genetics, 2007-03, Vol.71 (2), p.280-280

Povey, Sue

2007

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Editorial Note

Annals of human genetics, 2007-03, Vol.71 (2), p.280-280

Povey, Sue

2007

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Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

Human mutation, 2013-01, Vol.34 (1), p.167-175

2013

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Editorial

Annals of human genetics, 2006-10, p.61013031734002-?

Povey, Sue

2006

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Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis

Human mutation, 2016-04, Vol.37 (4), p.364-370

2016

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Guidelines for Human Gene Nomenclature

Genomics (San Diego, Calif.), 2002-04, Vol.79 (4), p.464-470

2002

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Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

Human mutation, 2011-04, Vol.32 (4), p.424-435

2011

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Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex

Human mutation, 2012-03, Vol.33 (3), p.476-479

2012

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Community Nomenclature: Standardized Gene Symbols

Genomics (San Diego, Calif.), 2002-04, Vol.79 (4), p.463-463

Povey, Sue

2002

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Gene map of the extended human MHC

The 2014 International Workshop on Alport Syndrome

Dynamic Molecular Combing: Stretching the Whole Human Genome for High-Resolution Studies

E. B. Robson, PhD (1928‐ 2016). Galton Professor of Human Genetics, University College London and Editor‐in‐Chief of the Annals of Human Genetics, died July 18th 2016

E. B. Robson, PhD (1928- 2016). Galton Professor of Human Genetics, University College London and Editor-in-Chief of the Annals of Human Genetics, died July 18th 2016: Obituary

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex

Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

HCOP: the HGNC comparison of orthology predictions search tool

The HGNC Database in 2008: a resource for the human genome

Mutation Databases for Inherited Renal Disease: Are They Complete, Accurate, Clinically Relevant, and Freely Available?

The Gene Ontology project in 2008

Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings

The HUGO Gene Nomenclature Committee (HGNC)

Rare single gene disorders: estimating baseline prevalence and outcomes worldwide

The HUGO Gene Nomenclature Database, 2006 updates

Editorial Note

Editorial Note

Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

Editorial

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis

Guidelines for Human Gene Nomenclature

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex

Renaming the DSCR1/Adapt78 gene family as RCAN: regulators of calcineurin

Community Nomenclature: Standardized Gene Symbols

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