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Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

PloS one, 2016-04, Vol.11 (4), p.e0153757-e0153757

2016

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The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2

European journal of human genetics : EJHG, 2014-03, Vol.22 (3), p.338-343

2014

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Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

Human molecular genetics, 2006-05, Vol.15 (9), p.1413-1422

2006

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Characterization of minority HIV-1 drug resistant variants in the United Kingdom following the verification of a deep sequencing-based HIV-1 genotyping and tropism assay

AIDS research and therapy, 2018-11, Vol.15 (1), p.18-18, Article 18

2018

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De Novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay

American journal of medical genetics. Part A, 2015-05, Vol.167A (5), p.1134-1141

2015

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Detection and quantification of gene expression in environmental bacteriology

Applied and environmental microbiology, 2004-07, Vol.70 (7), p.3795-3806

2004

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Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

American journal of human genetics, 2009-09, Vol.85 (3), p.394-400

2009

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Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

European journal of medical genetics, 2010-03, Vol.53 (2), p.93-99

2010

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The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

European journal of human genetics : EJHG, 2011-05, Vol.19 (5), p.534-539

2011

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The degradation of n-hexadecane in soil by thermophilic geobacilli

FEMS microbiology ecology, 2006-04, Vol.56 (1), p.44-54

2006

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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

European journal of human genetics : EJHG, 2011-10, Vol.19 (10), p.1032-1037

2011

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An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL

Clinical dysmorphology, 2012-01, Vol.21 (1), p.22-23

2012

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A rapid and effective method of extracting fully intact RNA from thermophilic geobacilli that is suitable for gene expression analysis

Extremophiles : life under extreme conditions, 2004-02, Vol.8 (1), p.73-77

2004

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Quantification of toxin-encoding mRNA from Clostridium botulinum type E in media containing sorbic acid or sodium nitrite by competitive RT-PCR

FEMS microbiology letters, 2004-03, Vol.232 (2), p.139-144

2004

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Mutations in SOX2 cause anophthalmia–esophageal–genital (AEG) syndrome

Human molecular genetics, 2006-06, Vol.15 (12), p.2030-2030

2006

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Quantitative effects of carbohydrates and aromatic amino acids on Clostridium botulinum toxin gene expression using a rapid competitive RT/PCR assay

Journal of molecular microbiology and biotechnology, 2005-01, Vol.9 (1), p.35-43

2005

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The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

European journal of human genetics : EJHG, 2011-05, Vol.19 (5), p.534-539

2011

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Nasal speech in patients with 12q15 microdeletions

European journal of human genetics : EJHG, 2012-04, Vol.20 (4), p.367-367

2012

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The 12q14 microdeletion syndrome; 6 new cases confirming the role of HMGA2 in growth

European journal of human genetics : EJHG, 2011-01

2011

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Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

American journal of human genetics, 2009-09, Vol.85 (3), p.419-419

2009

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The 12q14 microdeletion syndrome, 6 new cases confirming the role of HMGA2 in growth

Journal of medical genetics, 2010, Vol.47 (Suppl. 1), p.S90

2010

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The degradation of n-hexadecane in soil by thermophilic geobacilli: Alkane degradation by soil thermophiles

FEMS microbiology ecology, 2006-04, Vol.56 (1), p.44-54

2006

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Quantification of toxin-encoding mRNA from Clostridium botulinum type E in media containing sorbic acid or sodium nitrite by competitive RT-PCR

FEMS microbiology letters, 2004-03, Vol.232 (2), p.139-144

2004

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DETECTION OF HYDROCARBON DEGRADING THERMOPHILIC BACTERIA USING MOLECULAR BIOLOGY TECHNIQUES AND POSSIBLE USES IN ACCELERATED HYDROCARBON BIOREMEDIATION

International Oil Spill Conference Proceedings, 2005-05, Vol.2005 (1), p.1117-1120

2005

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Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

Characterization of minority HIV-1 drug resistant variants in the United Kingdom following the verification of a deep sequencing-based HIV-1 genotyping and tropism assay

De Novo interstitial deletion 13q33.3q34 in a male patient with double outlet right ventricle, microcephaly, dysmorphic craniofacial findings, and motor and developmental delay

Detection and quantification of gene expression in environmental bacteriology

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

The degradation of n-hexadecane in soil by thermophilic geobacilli

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL

A rapid and effective method of extracting fully intact RNA from thermophilic geobacilli that is suitable for gene expression analysis

Quantification of toxin-encoding mRNA from Clostridium botulinum type E in media containing sorbic acid or sodium nitrite by competitive RT-PCR

Mutations in SOX2 cause anophthalmia–esophageal–genital (AEG) syndrome

Quantitative effects of carbohydrates and aromatic amino acids on Clostridium botulinum toxin gene expression using a rapid competitive RT/PCR assay

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

Nasal speech in patients with 12q15 microdeletions

The 12q14 microdeletion syndrome; 6 new cases confirming the role of HMGA2 in growth

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

The 12q14 microdeletion syndrome, 6 new cases confirming the role of HMGA2 in growth

The degradation of n-hexadecane in soil by thermophilic geobacilli: Alkane degradation by soil thermophiles

Quantification of toxin-encoding mRNA from Clostridium botulinum type E in media containing sorbic acid or sodium nitrite by competitive RT-PCR

DETECTION OF HYDROCARBON DEGRADING THERMOPHILIC BACTERIA USING MOLECULAR BIOLOGY TECHNIQUES AND POSSIBLE USES IN ACCELERATED HYDROCARBON BIOREMEDIATION

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