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OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

Journal of medical genetics, 2006-07, Vol.43 (7), p.576-581

2006

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Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene

Journal of medical genetics, 2003-01, Vol.40 (1), p.45-50

2003

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Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

Annals of neurology, 1997-05, Vol.41 (5), p.675-682

1997

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The role of the dopamine transporter (DAT) in the development of PTSD in preschool children

Journal of traumatic stress, 2009-12, Vol.22 (6), p.534-539

2009

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Dominant and recessive deafness caused by mutations of a novel gene, TMC1 , required for cochlear hair-cell function

Nature genetics, 2002-03, Vol.30 (3), p.277-284

2002

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HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31

American journal of medical genetics. Part A, 2011-05, Vol.155A (5), p.976-985

2011

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A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

Nature genetics, 2000-09, Vol.26 (1), p.51-55

2000

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Multi-site diagnosis and management of 260 patients with Auditory Neuropathy/Dys-synchrony (Auditory Neuropathy Spectrum Disorder)

International journal of audiology, 2010, Vol.49 (1), p.30-43

2010

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Genetic variation of recent Alu insertions in human populations

Journal of molecular evolution, 1996-01, Vol.42 (1), p.22-29

1996

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Risk factors for gallstone disease in the laparoscopic era

Surgical endoscopy, 2002-03, Vol.16 (3), p.450-452

2002

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Chronic and Recurrent Otitis Media: A Genome Scan for Susceptibility Loci

American journal of human genetics, 2004-12, Vol.75 (6), p.988-997

2004

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Linkage Map Integration

Genomics (San Diego, Calif.), 1996-08, Vol.36 (1), p.157-162

1996

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Modification of Depression by COMT val[superscript 158]Met Polymorphism in Children Exposed to Early Severe Psychosocial Deprivation

Child abuse & neglect, 2010-06, Vol.34 (6), p.387

2010

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Maximum likelihood estimation of the Burr XII parameters with censored and uncensored data

Microelectronics and reliability, 1996, Vol.36 (3), p.359-362

1996

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Integration of Gene Maps: Chromosome 1

Proceedings of the National Academy of Sciences - PNAS, 1992-05, Vol.89 (10), p.4598-4602

1992

Volltextzugriff (PDF)

Structure, diversity, and evolution of the 45-bp VNTR in intron 5 of the USH1C gene

Genomics (San Diego, Calif.), 2004-03, Vol.83 (3), p.439-444

2004

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Refining the DFNB7–DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2

Gene, 2000-04, Vol.246 (1), p.265-274

2000

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Integration of Gene Maps: Chromosome 21

Proceedings of the National Academy of Sciences - PNAS, 1993-08, Vol.90 (15), p.7210-7214

1993

Volltextzugriff (PDF)

Integration of Gene Maps: Chromosome X

Genomics (San Diego, Calif.), 1994-08, Vol.22 (3), p.590-604

1994

Volltextzugriff (PDF)

Genetic heterogeneity in Usher syndrome

American journal of medical genetics, 2004-09, Vol.130A (1), p.13-16

2004

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Comparison of robust and least-squares regression in computer-generated probability plots

IEEE transactions on reliability, 1997-03, Vol.46 (1), p.108-115

1997

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Male Sexual Orientation and Genetic Evidence

Science (American Association for the Advancement of Science), 1993-12, Vol.262 (5142), p.2063-2065

1993

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Genomics and hearing impairment

Genome research, 1999-01, Vol.9 (1), p.7

1999

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X¯ chart with adaptive sample sizes

International journal of production research, 1993-12, Vol.31 (12), p.2895-2909

1993

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OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene

Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

The role of the dopamine transporter (DAT) in the development of PTSD in preschool children

Dominant and recessive deafness caused by mutations of a novel gene, TMC1 , required for cochlear hair-cell function

HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

Multi-site diagnosis and management of 260 patients with Auditory Neuropathy/Dys-synchrony (Auditory Neuropathy Spectrum Disorder)

Genetic variation of recent Alu insertions in human populations

Risk factors for gallstone disease in the laparoscopic era

Chronic and Recurrent Otitis Media: A Genome Scan for Susceptibility Loci

Linkage Map Integration

Modification of Depression by COMT val[superscript 158]Met Polymorphism in Children Exposed to Early Severe Psychosocial Deprivation

Maximum likelihood estimation of the Burr XII parameters with censored and uncensored data

Integration of Gene Maps: Chromosome 1

Structure, diversity, and evolution of the 45-bp VNTR in intron 5 of the USH1C gene

Refining the DFNB7–DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2

Integration of Gene Maps: Chromosome 21

Integration of Gene Maps: Chromosome X

Genetic heterogeneity in Usher syndrome

Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss-loci on human chromosome 9q and mouse chromosome 19

Comparison of robust and least-squares regression in computer-generated probability plots

Male Sexual Orientation and Genetic Evidence

Genomics and hearing impairment

X¯ chart with adaptive sample sizes

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