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Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity

PLoS genetics, 2021-07, Vol.17 (7), p.e1009651-e1009651

2021

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Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

European journal of human genetics : EJHG, 2005-06, Vol.13 (6), p.731-741

2005

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A 16S rRNA-targeted Probe for Detection of Lactobacilli and Enterococci in Faecal Samples by Fluorescent In Situ Hybridization

Microbial ecology in health and disease, 1999, Vol.11 (1), p.3-12

1999

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Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis

Familial cancer, 2011-03, Vol.10 (1), p.127-132

2011

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eP162 - Functional and structural analyses of novel Smith-Kingsmore syndrome-associated MTOR-variants reveal potential new mechanisms and predictors of pathogenicity

Molecular genetics and metabolism, 2021-04, Vol.132, p.S107-S107

2021

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Functional and structural analyses of novel Smith-Kingsmore syndrome-associated MTOR-variants reveal potential new mechanisms and predictors of pathogenicity

Molecular genetics and metabolism, 2021-04, Vol.132, p.S107

2021

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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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Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations

Human mutation, 2010-05, Vol.31 (5), p.E1348-E1360

2010

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Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1

BMC medical genetics, 2015-08, Vol.16 (1), p.61-61, Article 61

2015

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Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

European journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.157-163

2011

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Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations b

Human mutation, 2010-05, Vol.31 (5), p.E1348-E1360

2010

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Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis

Nucleic acids research, 1999-10, Vol.27 (20), p.e29

1999

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RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems

Human mutation, 2000, Vol.15 (5), p.418-429

2000

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Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutationsb

Human mutation, 2010-05, Vol.31 (5), p.E1348-E1360

2010

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Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE

Nucleic acids research, 1999-08, Vol.27 (15), p.e9

1999

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Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting : genotype - phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. Commentary

European journal of human genetics : EJHG, 2005, Vol.13 (6), p.695-696

2005

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Poly(A) tail shortening is the translation-dependent step in c-myc mRNA degradation

Molecular and Cellular Biology, 1990-12, Vol.10 (12), p.6132-6140

1990

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The N-terminal region of the adenovirus type 5 E1A proteins can repress expression of cellular genes via two distinct but overlapping domains

Journal of Virology, 1995-05, Vol.69 (5), p.2962-2967

1995

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High level expression and secretion of truncated forms of herpes simplex virus type 1 and type 2 glycoprotein D by the methylotrophic yeast Pichia pastoris

Protein expression and purification, 2002-08, Vol.25 (3), p.400-408

2002

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Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

A 16S rRNA-targeted Probe for Detection of Lactobacilli and Enterococci in Faecal Samples by Fluorescent In Situ Hybridization

Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal

eP162 - Functional and structural analyses of novel Smith-Kingsmore syndrome-associated MTOR-variants reveal potential new mechanisms and predictors of pathogenicity

Functional and structural analyses of novel Smith-Kingsmore syndrome-associated MTOR-variants reveal potential new mechanisms and predictors of pathogenicity

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

Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations b

Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutationsb

Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting : genotype - phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. Commentary

Poly(A) tail shortening is the translation-dependent step in c-myc mRNA degradation

The N-terminal region of the adenovirus type 5 E1A proteins can repress expression of cellular genes via two distinct but overlapping domains

High level expression and secretion of truncated forms of herpes simplex virus type 1 and type 2 glycoprotein D by the methylotrophic yeast Pichia pastoris

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