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Geophysical imaging of ophiolite structure in the United Arab Emirates

Nature communications, 2020-05, Vol.11 (1), p.2671-2671, Article 2671

2020

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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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Pretiosa est in conspectu Domini mors sanctorum eius. The Chapter Book Necrologies of Mont Saint-Michel, Avranches, Bibl. patrimoniale, ms 214

Tabularia (Caen), 2022-11

Keats-Rohan, Katharine S. B

2022

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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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A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14–21

Journal of medical genetics, 2004-11, Vol.41 (11), p.872-876

2004

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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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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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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 Ka -Band Fully Tunable Cavity Filter

IEEE transactions on microwave theory and techniques, 2012-12, Vol.60 (12), p.4002-4012

2012

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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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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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Linkage Map Integration

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

1996

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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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Trisomy 21 : association between reduced recombination and nondisjunction

American journal of human genetics, 1991-09, Vol.49 (3), p.608-620

1991

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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

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Design and testing of SMA temperature-compensated cavity resonators

IEEE transactions on microwave theory and techniques, 2003-12, Vol.51 (12), p.2284-2289

2003

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IEEE_Xplore

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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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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Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145→Ser)

Brain (London, England : 1878), 2003-07, Vol.126 (7), p.1604-1619

2003

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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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Mutations in the Connexin 26 Gene (GJB2) among Ashkenazi Jews with Nonsyndromic Recessive Deafness

The New England journal of medicine, 1998-11, Vol.339 (21), p.1500-1505

1998

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Geophysical imaging of ophiolite structure in the United Arab Emirates

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

Pretiosa est in conspectu Domini mors sanctorum eius. The Chapter Book Necrologies of Mont Saint-Michel, Avranches, Bibl. patrimoniale, ms 214

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

A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14–21

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

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

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

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

A Ka -Band Fully Tunable Cavity Filter

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

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

Linkage Map Integration

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

Trisomy 21 : association between reduced recombination and nondisjunction

Integration of Gene Maps: Chromosome 1

Design and testing of SMA temperature-compensated cavity resonators

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

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

Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145→Ser)

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

Mutations in the Connexin 26 Gene (GJB2) among Ashkenazi Jews with Nonsyndromic Recessive Deafness

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