UB Paderborn / Katalog / Suche / in CDI

1 – 21 von 21

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)

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)

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)

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)

SPIKE: a database of highly curated human signaling pathways

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

2011

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)

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)

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)

Collaborative genomics for human health and cooperation in the Mediterranean region

Nature genetics, 2010-08, Vol.42 (8), p.641-645

2010

Volltextzugriff (PDF)

Role of Myosin VI in the Differentiation of Cochlear Hair Cells

Developmental biology, 1999-10, Vol.214 (2), p.331-341

1999

Volltextzugriff (PDF)

Mouse Models for Deafness: Lessons for the Human Inner Ear and Hearing Loss

Ear and hearing, 2003-08, Vol.24 (4), p.332-341

Avraham, Karen B.

2003

Volltextzugriff (PDF)

Transcription profiling of inner ears from Pou4f3ddl/ddl identifies Gfi1 as a target of the Pou4f3 deafness gene

Human molecular genetics, 2004-09, Vol.13 (18), p.2143-2153

2004

Volltextzugriff (PDF)

Connexin-associated deafness and speech perception outcome of cochlear implantation

Archives of otolaryngology--head & neck surgery, 2006-05, Vol.132 (5), p.495

2006

Volltextzugriff (PDF)

Mapping of Unconventional Myosins in Mouse and Human

Genomics (San Diego, Calif.), 1996-09, Vol.36 (3), p.431-439

1996

Volltextzugriff (PDF)

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

Nature genetics, 1995-12, Vol.11 (4), p.369-375

1995

Volltextzugriff (PDF)

Genetics of deafness: recent advances and clinical implications

Journal of basic and clinical physiology and pharmacology, 2002, Vol.13 (2), p.75

2002

Volltextzugriff (PDF)

Multiple Mutations ofMYO1A, a Cochlear-Expressed Gene, in Sensorineural Hearing Loss

American journal of human genetics, 2003-06, Vol.72 (6), p.1571-1577

2003

Volltextzugriff (PDF)

Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor

Archives of otolaryngology--head & neck surgery, 2000-05, Vol.126 (5), p.633

2000

Volltextzugriff (PDF)

Molecular Diversity of the SCG10/Stathmin Gene Family in the Mouse

Genomics (San Diego, Calif.), 1993-11, Vol.18 (2), p.360-373

1993

Volltextzugriff (PDF)

1 – 21 von 21

Suche als RSS-Feed

Aktive Filter

ThemaMutation

SpracheJapanisch

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(19)
Mit Volltextzugriff
(16)

Publikationsform

Artikel
(21)

Sprache

Englisch
(21)

Erscheinungsjahr

n.n

Menü

Weitere Dienste

Einstellungen

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

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

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

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

SPIKE: a database of highly curated human signaling pathways

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

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

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

Collaborative genomics for human health and cooperation in the Mediterranean region

Role of Myosin VI in the Differentiation of Cochlear Hair Cells

Mouse Models for Deafness: Lessons for the Human Inner Ear and Hearing Loss

Transcription profiling of inner ears from Pou4f3ddl/ddl identifies Gfi1 as a target of the Pou4f3 deafness gene

Connexin-associated deafness and speech perception outcome of cochlear implantation

Mapping of Unconventional Myosins in Mouse and Human

Prevalence and Evolutionary Origins of the del( GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

Genetics of deafness: recent advances and clinical implications

Multiple Mutations ofMYO1A, a Cochlear-Expressed Gene, in Sensorineural Hearing Loss

Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor

Molecular Diversity of the SCG10/Stathmin Gene Family in the Mouse

Aktive Filter

Suchergebnisse filtern