Results 131 to 140 of about 771,137 (341)

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Fundamental frequency and formant structure in deaf speech: Influence of a hearing aid in a case study [PDF]

, 1979
M. J. Collins
openalex   +1 more source

Tactile localization of acoustic stimuli with an earmold vibratrory aid [PDF]

, 1984
This study examines the tactile localization of sound sources utilizing an earmold vibratory hearing ...
Wapinski, Zila
core   +1 more source

Hearing aid fitting in older persons with hearing impairment: the influence of cognitive function, age, and hearing loss on hearing aid benefit

Clinical Interventions in Aging, 2015
Hartmut Meister,1 Sebastian Rählmann,1 Martin Walger,2 Sabine Margolf-Hackl,3 Jürgen Kießling3 1Jean Uhrmacher Institute for Clinical ENT-Research, University of Cologne, Cologne, Germany; 2Department of Otorhinolaryngology, Head and ...
Meister H, Rählmann S, Walger M, Margolf-Hackl S, Kießling J   +4 more
doaj  

Experimental wide-band hearing aid [PDF]

, 1976
Mead C. Killion
openalex   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

HEARING AIDS [PDF]

BMJ, 1936
openaire   +3 more sources

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Over the counter hearing aids self-fitting using the Gaussian Process Classification

Frontiers in Audiology and Otology
IntroductionTo provide better access to hearing aids and lower the devices' costs for patients with mild to moderate hearing loss, the Food and Drug Administration (FDA) changed its rules for hearing aid distribution, making them available to consumers ...
Christopher Boven, Joseph Turek, Kathleen Dunckley, Claus-Peter Richter, Claus-Peter Richter, Claus-Peter Richter, Claus-Peter Richter   +6 more
doaj   +1 more source

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source