An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
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]
Varghese JJ +8 more
europepmc +1 more source
Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders
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
Longitudinal Breath Sound Changes During Erythromycin Therapy in Paediatric Diffuse Panbronchiolitis. [PDF]
Iikura K +5 more
europepmc +1 more source
PeaDetect dataset: Curated audio recordings of Indian peafowl (Pavo cristatus) vocalizations for bioacoustic monitoring. [PDF]
Puvanendran R +4 more
europepmc +1 more source
Novel deep learning-based optimization framework for the classification of respiratory diseases using lung sound analysis. [PDF]
Ayappan G +3 more
europepmc +1 more source
Advancing Point-of-Care Still's Murmur Identification: Evaluating the Efficacy of ConvNets and Transformers Using the StethAid Multicenter Heart Sound Database. [PDF]
Arjoune Y +7 more
europepmc +1 more source
A Robust Deep Learning Approach for COPD Automated Detection. [PDF]
Xu S +5 more
europepmc +1 more source
Twelve quick tips for applying deep learning to animal sounds. [PDF]
Ghani B +3 more
europepmc +1 more source

