UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 50

Sortiert nach

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Human mutation, 2018-11, Vol.39 (11), p.1593-1613

2018

Volltextzugriff (PDF)

Hearing loss: mechanisms revealed by genetics and cell biology

Annual review of genetics, 2009-12, Vol.43 (1), p.411-437

2009

Volltextzugriff (PDF)

Mechanical forces drive ordered patterning of hair cells in the mammalian inner ear

Nature communications, 2020-10, Vol.11 (1), p.5137-5137, Article 5137

2020

Volltextzugriff (PDF)

Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82

American journal of human genetics, 2010-07, Vol.87 (1), p.90-94

2010

Volltextzugriff (PDF)

Genomic analysis of inherited hearing loss in the Palestinian population

Proceedings of the National Academy of Sciences - PNAS, 2020-08, Vol.117 (33), p.20070-20076

2020

Volltextzugriff (PDF)

microRNAs: the art of silencing in the ear

EMBO molecular medicine, 2012-09, Vol.4 (9), p.849-859

2012

Volltextzugriff (PDF)

MicroRNAs are essential for development and function of inner ear hair cells in vertebrates

Proceedings of the National Academy of Sciences - PNAS, 2009-05, Vol.106 (19), p.7915-7920

2009

Volltextzugriff (PDF)

Hereditary hearing loss: From human mutation to mechanism

Hearing research, 2011-11, Vol.281 (1), p.3-10

2011

Volltextzugriff (PDF)

DNA methylation dynamics during embryonic development and postnatal maturation of the mouse auditory sensory epithelium

Scientific reports, 2018-11, Vol.8 (1), p.17348-15, Article 17348

2018

Volltextzugriff (PDF)

Genetics of hearing loss in the Arab population of Northern Israel

European journal of human genetics : EJHG, 2018-12, Vol.26 (12), p.1840-1847

2018

Volltextzugriff (PDF)

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing

European journal of human genetics : EJHG, 2014-06, Vol.22 (6), p.768-775

2014

Volltextzugriff (PDF)

SPIKE: a database of highly curated human signaling pathways

Nucleic acids research, 2011-01, Vol.39 (Database issue), p.D793

2011

Volltextzugriff (PDF)

A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells

PLoS genetics, 2008-10, Vol.4 (10), p.e1000207-e1000207

2008

Volltextzugriff (PDF)

Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51

American journal of human genetics, 2010-07, Vol.87 (1), p.101-109

2010

Volltextzugriff (PDF)

Ankrd6 is a mammalian functional homolog of Drosophila planar cell polarity gene diego and regulates coordinated cellular orientation in the mouse inner ear

Developmental biology, 2014-11, Vol.395 (1), p.62-72

2014

Volltextzugriff (PDF)

MicroRNAs and epigenetic regulation in the mammalian inner ear: implications for deafness

Mammalian genome, 2009-10, Vol.20 (9-10), p.581-603

2009

Volltextzugriff (PDF)

Calcium Oxalate Stone Formation in the Inner Ear as a Result of an Slc26a4 Mutation

The Journal of biological chemistry, 2010-07, Vol.285 (28), p.21724-21735

2010

Volltextzugriff (PDF)

MicroRNAs in sensorineural diseases of the ear

Frontiers in molecular neuroscience, 2013-12, Vol.6, p.52-52

2013

Volltextzugriff (PDF)

A "Tric" to tighten cell-cell junctions in the cochlea for hearing

The Journal of clinical investigation, 2013-09, Vol.123 (9), p.3712-3715

2013

Volltextzugriff (PDF)

Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness

Mammalian genome, 2014-08, Vol.25 (7-8), p.304-316

2014

Volltextzugriff (PDF)

Targeted Disruption of the Mouse Caspase 8 Gene Ablates Cell Death Induction by the TNF Receptors, Fas/Apo1, and DR3 and Is Lethal Prenatally

Immunity (Cambridge, Mass.), 1998-08, Vol.9 (2), p.267-276

1998

Volltextzugriff (PDF)

Cytoplasmic Mislocalization of POU3F4 Due to Novel Mutations Leads to Deafness in Humans and Mice

Human mutation, 2013-08, Vol.34 (8), p.1102-1110

2013

Volltextzugriff (PDF)

MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

American journal of human genetics, 2001-09, Vol.69 (3), p.635-640

2001

Volltextzugriff (PDF)

Gfi1 and Gfi1b act equivalently in haematopoiesis, but have distinct, non-overlapping functions in inner ear development

EMBO reports, 2006-03, Vol.7 (3), p.326-333

2006

Volltextzugriff (PDF)

mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA

Mammalian genome, 2011-04, Vol.22 (3-4), p.170-177

2011

Volltextzugriff (PDF)

1 – 25 von 50

Suche als RSS-Feed

Aktive Filter

Nur zeigenMit Volltextzugriff

SpracheJapanisch

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(47)

Publikationsform

Artikel
(50)

Sprache

Englisch
(50)

Erscheinungsjahr

n.n

Thema

Science & Technology
(45)
Life Sciences & Biomedicine
(40)
Animals
(33)
Humans
(33)
Mutation
(29)
Mice
(25)
Genetics & Heredity
(24)
Deafness
(17)
Hearing Loss
(17)
Female
(15)
Genetics
(15)
Hearing Loss - Genetics
(15)
Male
(15)
Biological And Medical Sciences
(14)
Deafness - Genetics
(12)
Biochemistry & Molecular Biology
(11)
Ear, Auditive Nerve, Cochleovestibular Tract, Facial Nerve: Diseases, Semeiology
(10)
Medical Sciences
(10)
Non Tumoral Diseases
(10)
Otorhinolaryngology. Stomatology
(10)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Hearing loss: mechanisms revealed by genetics and cell biology

Mechanical forces drive ordered patterning of hair cells in the mammalian inner ear

Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82

Genomic analysis of inherited hearing loss in the Palestinian population

microRNAs: the art of silencing in the ear

MicroRNAs are essential for development and function of inner ear hair cells in vertebrates

Hereditary hearing loss: From human mutation to mechanism

DNA methylation dynamics during embryonic development and postnatal maturation of the mouse auditory sensory epithelium

Genetics of hearing loss in the Arab population of Northern Israel

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing

SPIKE: a database of highly curated human signaling pathways

A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells

Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51

Ankrd6 is a mammalian functional homolog of Drosophila planar cell polarity gene diego and regulates coordinated cellular orientation in the mouse inner ear

MicroRNAs and epigenetic regulation in the mammalian inner ear: implications for deafness

Calcium Oxalate Stone Formation in the Inner Ear as a Result of an Slc26a4 Mutation

MicroRNAs in sensorineural diseases of the ear

A "Tric" to tighten cell-cell junctions in the cochlea for hearing

Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness

Targeted Disruption of the Mouse Caspase 8 Gene Ablates Cell Death Induction by the TNF Receptors, Fas/Apo1, and DR3 and Is Lethal Prenatally

Cytoplasmic Mislocalization of POU3F4 Due to Novel Mutations Leads to Deafness in Humans and Mice

MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

Gfi1 and Gfi1b act equivalently in haematopoiesis, but have distinct, non-overlapping functions in inner ear development

mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA

Aktive Filter

Suchergebnisse filtern