Results 151 to 160 of about 13,663,771 (328)

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

open access: yesAmerican 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   +4 more
wiley   +1 more source

Evidence for the Necessity of Objective Hearing Tests in Cochlear Implantation Assessment: Excluding Functional Hearing Loss Cases. [PDF]

open access: yesJ Clin Med
Gáborján A   +7 more
europepmc   +1 more source

Preauricular tags and pits in the newborn: the role of hearing tests

open access: yesActa paediatrica, 1997
A. Kugelman   +5 more
semanticscholar   +1 more source

Improving Accuracy and Reliability of Hearing Tests: Measurement Standards for Audiometric Devices. [PDF]

open access: yesJ Audiol Otol
Cho WH   +10 more
europepmc   +1 more source

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

open access: yesAmerican 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   +3 more
wiley   +1 more source

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