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Mutations in the Iodotyrosine Deiodinase Gene and Hypothyroidism

The New England journal of medicine, 2008-04, Vol.358 (17), p.1811-1818

2008

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Keratin mutations of epidermolysis bullosa simplex alter the kinetics of stress response to osmotic shock

Journal of cell science, 2002-11, Vol.115 (Pt 22), p.4341-4351

2002

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3D MRI analysis of the lower legs of treated idiopathic congenital talipes equinovarus (clubfoot)

PloS one, 2013-01, Vol.8 (1), p.e54100-e54100

2013

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Research, #Huh? Improving research awareness in NHS Grampian through a website and more

Research for all, 2020-09, Vol.4 (2), p.180-193

2020

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Multiple Self-Healing Squamous Epithelioma (MSSE): Rare Variants in an Adjacent Region of Chromosome 9q22.3 to Known TGFBR1 Mutations Suggest a Digenic or Multilocus Etiology

Journal of investigative dermatology, 2013-07, Vol.133 (7), p.1907-1910

2013

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Multiple Self-Healing Squamous Epithelioma in Different Ethnic Groups: More than a Founder Mutation Disorder?

Journal of investigative dermatology, 2007-10, Vol.127 (10), p.2336-2344

2007

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A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing

Molecular syndromology, 2016-02, Vol.6 (5), p.254-258

2016

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Striatal Volume Contributes to the Prediction of Onset of Huntington Disease in Incident Cases

Biological psychiatry (1969), 2012-05, Vol.71 (9), p.822-828

2012

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Prefrontal cortex white matter tracts in prodromal Huntington disease

Human brain mapping, 2015-10, Vol.36 (10), p.3717-3732

2015

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Multivariate prediction of motor diagnosis in Huntington's disease: 12 years of PREDICT-HD

Movement disorders, 2015-10, Vol.30 (12), p.1664-1672

2015

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Severe keratin 5 and 14 mutations induce down-regulation of junction proteins in keratinocytes

Experimental cell research, 2009-10, Vol.315 (17), p.2995-3003

2009

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Tracking motor impairments in the progression of Huntington's disease

Movement disorders, 2014-03, Vol.29 (3), p.311-319

2014

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Characterization of depression in prodromal Huntington disease in the neurobiological predictors of HD (PREDICT-HD) study

Journal of psychiatric research, 2013-10, Vol.47 (10), p.1423-1431

2013

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Hodgkin Lymphoma and Nephrotic Syndrome in Childhood

Indian journal of pediatrics, 2010-10, Vol.77 (10), p.1147-1149

2010

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WHODAS 2.0 in prodromal Huntington disease: measures of functioning in neuropsychiatric disease

European journal of human genetics : EJHG, 2014-08, Vol.22 (8), p.958-963

2014

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Motor onset and diagnosis in Huntington disease using the diagnostic confidence level

Journal of neurology, 2015-12, Vol.262 (12), p.2691-2698

2015

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Performance of the 12-item WHODAS 2.0 in prodromal Huntington disease

European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1584-1587

2015

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Multivariate Clustering of Progression Profiles Reveals Different Depression Patterns in Prodromal Huntington Disease

Neuropsychology, 2015-11, Vol.29 (6), p.949-960

2015

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Dual-specificity phosphatases in the hypo-osmotic stress response of keratin-defective epithelial cell lines

Experimental cell research, 2008-06, Vol.314 (10), p.2066-2075

2008

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Intra-individual Variability in Prodromal Huntington Disease and Its Relationship to Genetic Burden

Journal of the International Neuropsychological Society, 2015-01, Vol.21 (1), p.8-21

2015

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The impact of oculomotor functioning on neuropsychological performance in Huntington disease

Journal of clinical and experimental neuropsychology, 2016-02, Vol.38 (2), p.217-226

2016

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Abstract LB-245: Loss of function of the TGFβRI receptor leads to the spontaneously regressing squamous carcinoma condition, multiple self-healing squamous epithelioma (Ferguson-Smith disease)

Cancer research (Chicago, Ill.), 2011-04, Vol.71 (8_Supplement), p.LB-245-LB-245

2011

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Mutations in the Iodotyrosine Deiodinase Gene and HypothyroidismBrief Report

The New England journal of medicine, 2008-04, Vol.358 (17), p.1811

2008

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Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency

Neuromuscular disorders : NMD, 1997-03, Vol.7 (2), p.85-89

1997

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Mutations in the Iodotyrosine Deiodinase Gene and Hypothyroidism

Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

Keratin mutations of epidermolysis bullosa simplex alter the kinetics of stress response to osmotic shock

3D MRI analysis of the lower legs of treated idiopathic congenital talipes equinovarus (clubfoot)

Research, #Huh? Improving research awareness in NHS Grampian through a website and more

Multiple Self-Healing Squamous Epithelioma (MSSE): Rare Variants in an Adjacent Region of Chromosome 9q22.3 to Known TGFBR1 Mutations Suggest a Digenic or Multilocus Etiology

Multiple Self-Healing Squamous Epithelioma in Different Ethnic Groups: More than a Founder Mutation Disorder?

A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing

Striatal Volume Contributes to the Prediction of Onset of Huntington Disease in Incident Cases

Prefrontal cortex white matter tracts in prodromal Huntington disease

Multivariate prediction of motor diagnosis in Huntington's disease: 12 years of PREDICT-HD

Severe keratin 5 and 14 mutations induce down-regulation of junction proteins in keratinocytes

Tracking motor impairments in the progression of Huntington's disease

Characterization of depression in prodromal Huntington disease in the neurobiological predictors of HD (PREDICT-HD) study

Hodgkin Lymphoma and Nephrotic Syndrome in Childhood

WHODAS 2.0 in prodromal Huntington disease: measures of functioning in neuropsychiatric disease

Motor onset and diagnosis in Huntington disease using the diagnostic confidence level

Performance of the 12-item WHODAS 2.0 in prodromal Huntington disease

Multivariate Clustering of Progression Profiles Reveals Different Depression Patterns in Prodromal Huntington Disease

Dual-specificity phosphatases in the hypo-osmotic stress response of keratin-defective epithelial cell lines

Intra-individual Variability in Prodromal Huntington Disease and Its Relationship to Genetic Burden

The impact of oculomotor functioning on neuropsychological performance in Huntington disease

Abstract LB-245: Loss of function of the TGFβRI receptor leads to the spontaneously regressing squamous carcinoma condition, multiple self-healing squamous epithelioma (Ferguson-Smith disease)

Mutations in the Iodotyrosine Deiodinase Gene and HypothyroidismBrief Report

Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency

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