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A genomic mutational constraint map using variation in 76,156 human genomes

Nature (London), 2024-01, Vol.625 (7993), p.92-100

2024

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A systematic approach to assessing the clinical significance of genetic variants

Clinical genetics, 2013-11, Vol.84 (5), p.453-463

2013

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A framework for automated gene selection in genomic applications

Genetics in medicine, 2021-10, Vol.23 (10), p.1993-1997

2021

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TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells

Nature, 2004-12, Vol.432 (7018), p.723-730

2004

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GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

American journal of human genetics, 2005-12, Vol.77 (6), p.945-957

2005

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Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa

Science (American Association for the Advancement of Science), 1998-06, Vol.280 (5370), p.1753-1757

1998

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SHORT-TERM COSTS OF WHOLE GENOME SEQUENCING IN CARDIOLOGY AND PRIMARY CARE: FINDINGS FROM THE MEDSEQ PROJECT

Value in health, 2017-05, Vol.20 (5), p.A30

2017

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Vascular Defects and Sensorineural Deafness in a Mouse Model of Norrie Disease

The Journal of neuroscience, 2002-06, Vol.22 (11), p.4286-4292

2002

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Genetics and the Genome Project

Ear and hearing, 2003-08, Vol.24 (4), p.270-274

Rehm, Heidi L

2003

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Audiologic Features of Norrie Disease

Annals of otology, rhinology & laryngology, 2005-07, Vol.114 (7), p.533-538

2005

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The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy

American journal of medical genetics, 2005-01, Vol.132A (3), p.333-334

2005

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Glossary for Hereditary Hearing Impairment

Ear and hearing, 2003-08, Vol.24 (4), p.260-265

2003

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A new age in the genetics of deafness

Genetics in medicine, 1999-09, Vol.1 (6), p.295-302

1999

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Connexin 26 studies in patients with sensorineural hearing loss

Archives of otolaryngology--head & neck surgery, 2001-09, Vol.127 (9), p.1037

2001

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Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics

Genetics in medicine, 2003-07, Vol.5 (4), p.338-341

2003

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Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency

Human mutation, 1997, Vol.9 (5), p.402-408

1997

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Coordinate synthesis and turnover of heat shock proteins in Borrelia burgdorferi: degradation of DnaK during recovery from heat shock

Infection and Immunity, 1996-05, Vol.64 (5), p.1736-1743

1996

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Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980–2015: a systematic analysis for the Global Burden of Disease Study 2015

The Lancet (British edition), 2016-10, Vol.388 (10053), p.1459-1544

2016

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Human Cytomegalovirus Gene Products US2 and US11 Differ in Their Ability To Attack Major Histocompatibility Class I Heavy Chains in Dendritic Cells

Journal of Virology, 2002-05, Vol.76 (10), p.5043-5050

2002

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Signal peptide cleavage of a type I membrane protein, HCMV US11, is dependent on its membrane anchor

The EMBO journal, 2001-04, Vol.20 (7), p.1573-1582

2001

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A novel system for systematic microwave noise and DC characterization of terahertz Schottky diodes

IEEE transactions on instrumentation and measurement, 2004-04, Vol.53 (2), p.581-587

2004

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Assembly and intracellular targeting of the beta gamma subunits of heterotrimeric G proteins

The Journal of cell biology, 1997-04, Vol.137 (2), p.305

1997

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Monoclonal antibodies that distinguish between free and complexed heterotrimeric G protein β subunits

FEBS letters, 1997-02, Vol.402 (2), p.277-285

1997

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Upper airway obstruction due to tonsillar lymphadenopathy in human immunodeficiency virus infection

Archives of otolaryngology--head & neck surgery, 1990-06, Vol.116 (6), p.738

1990

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Die einzelnen Lebensmittel (Chemie, Technologie, Analytik)

Zeitschrift f r Lebensmittel-Untersuchung und -Forschung, 1963-10, Vol.123 (2), p.131-139

1963

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A genomic mutational constraint map using variation in 76,156 human genomes

A systematic approach to assessing the clinical significance of genetic variants

A framework for automated gene selection in genomic applications

TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa

SHORT-TERM COSTS OF WHOLE GENOME SEQUENCING IN CARDIOLOGY AND PRIMARY CARE: FINDINGS FROM THE MEDSEQ PROJECT

Vascular Defects and Sensorineural Deafness in a Mouse Model of Norrie Disease

Genetics and the Genome Project

Audiologic Features of Norrie Disease

The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy

Glossary for Hereditary Hearing Impairment

A new age in the genetics of deafness

Connexin 26 studies in patients with sensorineural hearing loss

Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics

Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency

Coordinate synthesis and turnover of heat shock proteins in Borrelia burgdorferi: degradation of DnaK during recovery from heat shock

Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980–2015: a systematic analysis for the Global Burden of Disease Study 2015

Human Cytomegalovirus Gene Products US2 and US11 Differ in Their Ability To Attack Major Histocompatibility Class I Heavy Chains in Dendritic Cells

Signal peptide cleavage of a type I membrane protein, HCMV US11, is dependent on its membrane anchor

A novel system for systematic microwave noise and DC characterization of terahertz Schottky diodes

Assembly and intracellular targeting of the beta gamma subunits of heterotrimeric G proteins

Monoclonal antibodies that distinguish between free and complexed heterotrimeric G protein β subunits

Upper airway obstruction due to tonsillar lymphadenopathy in human immunodeficiency virus infection

Die einzelnen Lebensmittel (Chemie, Technologie, Analytik)

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