Results 241 to 250 of about 166,772,241 (302)

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula   +8 more
wiley   +1 more source

Estimating Performance Using Tonotopic Measurements of Intracochlear Electrocochleography: Comparison of Lateral Wall and Perimodiolar Arrays. [PDF]

open access: yesOtolaryngol Head Neck Surg
Varghese JJ   +8 more
europepmc   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert   +4 more
wiley   +1 more source

A Robust Deep Learning Approach for COPD Automated Detection. [PDF]

open access: yesSensors (Basel)
Xu S   +5 more
europepmc   +1 more source

Twelve quick tips for applying deep learning to animal sounds. [PDF]

open access: yesPLoS Comput Biol
Ghani B   +3 more
europepmc   +1 more source

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