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Prediction uncertainty estimates elucidate the limitation of current NSCLC subtype classification in representing mutational heterogeneity

Scientific reports, 2024-03, Vol.14 (1), p.6779-6779, Article 6779

2024

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Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

Journal of neurodevelopmental disorders, 2019-06, Vol.11 (1), p.11-11, Article 11

2019

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Non-fatal suicidal behaviour, depression and poverty among young men living in low-resource communities in South Africa

BMC public health, 2018-10, Vol.18 (1), p.1195-12, Article 1195

2018

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A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report

BMC medical genetics, 2018-05, Vol.19 (1), p.69-69, Article 69

2018

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Bayesian selection of continuous-time Markov chain evolutionary models

Molecular biology and evolution, 2001-06, Vol.18 (6), p.1001-1013

2001

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Mice deficient in the steroid receptor co-activator 1 (SRC-1) are resistant to thyroid hormone

The EMBO journal, 1999-04, Vol.18 (7), p.1900-1904

1999

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Genetic Analysis Reveals Different Functions for the Products of the Thyroid Hormone Receptor α Locus

Molecular and Cellular Biology, 2001-07, Vol.21 (14), p.4748-4760

2001

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Anal human papillomavirus infection in a street-based sample of drug using HIV-positive men

International journal of STD & AIDS, 2012-03, Vol.23 (3), p.195-200

2012

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Treatment of resistance to thyroid hormone--primum non nocere

The journal of clinical endocrinology and metabolism, 1999-02, Vol.84 (2), p.401-404

1999

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URETEROENTERIC ANASTOMOSIS IN CONTINENT URINARY DIVERSION: LONG-TERM RESULTS AND COMPLICATIONS OF DIRECT VERSUS NONREFLUXING TECHNIQUES

The Journal of urology, 2000-02, Vol.163 (2), p.450-455

2000

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Species-Specific Differences in Expression of G-Protein-Coupled Receptor Kinase (GRK) 7 and GRK1 in Mammalian Cone Photoreceptor Cells: Implications for Cone Cell Phototransduction

The Journal of neuroscience, 2001-12, Vol.21 (23), p.9175-9184

2001

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Visualizing and quantifying Pseudomonas aeruginosa infection in the hindbrain ventricle of zebrafish using confocal laser scanning microscopy

Journal of microbiological methods, 2015-10, Vol.117, p.85-94

2015

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Virtual reality-based training for the diagnosis of prostate cancer

IEEE transactions on biomedical engineering, 1999-10, Vol.46 (10), p.1253-1260

1999

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Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

Genetics in medicine, 2019-01, Vol.21 (1), p.53-61

2019

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Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor α or β genes may be due to a defective cofactor

The journal of clinical endocrinology and metabolism, 1996-12, Vol.81 (12), p.4196-4203

1996

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De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

American journal of human genetics, 2019-07, Vol.105 (1), p.213-220

2019

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Thyroid function and effect of aging in combined hetero/homozygous mice deficient in thyroid hormone receptors alpha and beta genes

Journal of endocrinology, 2002-01, Vol.172 (1), p.177-185

2002

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Iodine deficiency activates antioxidant genes and causes DNA damage in the thyroid gland of rats and mice

Biochimica et biophysica acta, 2007-06, Vol.1773 (6), p.990-999

2007

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Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site

The Journal of clinical investigation, 1998-03, Vol.101 (5), p.1028-1035

1998

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Failure of membrane targeting causes the functional defect of two mutant sodium iodide symporters

The journal of clinical endocrinology and metabolism, 2000-07, Vol.85 (7), p.2366-2369

2000

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Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer

The Journal of molecular diagnostics : JMD, 2015-03, Vol.17 (2), p.162-170

2015

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Validation of a semiconductor next‐generation sequencing assay for the clinical genetic screening of CFTR

Molecular genetics & genomic medicine, 2015-09, Vol.3 (5), p.396-403

2015

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Wnt ligand-dependent activation of the negative feedback regulator Nkd1

Molecular biology of the cell, 2015-06, Vol.26 (12), p.2375-2384

2015

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The syndromes of resistance to thyroid hormone

Endocrine reviews, 1993-06, Vol.14 (3), p.348-399

1993

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Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene : analysis of 15 families

The Journal of clinical investigation, 1993-06, Vol.91 (6), p.2408-2415

1993

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Prediction uncertainty estimates elucidate the limitation of current NSCLC subtype classification in representing mutational heterogeneity

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

Non-fatal suicidal behaviour, depression and poverty among young men living in low-resource communities in South Africa

A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report

Bayesian selection of continuous-time Markov chain evolutionary models

Mice deficient in the steroid receptor co-activator 1 (SRC-1) are resistant to thyroid hormone

Genetic Analysis Reveals Different Functions for the Products of the Thyroid Hormone Receptor α Locus

Anal human papillomavirus infection in a street-based sample of drug using HIV-positive men

Treatment of resistance to thyroid hormone--primum non nocere

URETEROENTERIC ANASTOMOSIS IN CONTINENT URINARY DIVERSION: LONG-TERM RESULTS AND COMPLICATIONS OF DIRECT VERSUS NONREFLUXING TECHNIQUES

Species-Specific Differences in Expression of G-Protein-Coupled Receptor Kinase (GRK) 7 and GRK1 in Mammalian Cone Photoreceptor Cells: Implications for Cone Cell Phototransduction

Visualizing and quantifying Pseudomonas aeruginosa infection in the hindbrain ventricle of zebrafish using confocal laser scanning microscopy

Virtual reality-based training for the diagnosis of prostate cancer

Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor α or β genes may be due to a defective cofactor

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

Thyroid function and effect of aging in combined hetero/homozygous mice deficient in thyroid hormone receptors alpha and beta genes

Iodine deficiency activates antioxidant genes and causes DNA damage in the thyroid gland of rats and mice

Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site

Failure of membrane targeting causes the functional defect of two mutant sodium iodide symporters

Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer

Validation of a semiconductor next‐generation sequencing assay for the clinical genetic screening of CFTR

Wnt ligand-dependent activation of the negative feedback regulator Nkd1

The syndromes of resistance to thyroid hormone

Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene : analysis of 15 families

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