Results 161 to 170 of about 11,341 (236)

Integration of Soft‐Robotics and Deep Learning to Assess the Coordinated Biosonar Emission and Reception Dynamics in Hipposiderid Bats

Advanced Robotics Research, Volume 2, Issue 1, February 2026.
Combining a biomimetic soft‐robot with deep‐learning data analytics sheds light on a unique peripheral dynamics seen in the biosonar system of bats: Bats modulate their ultrasonic biosonar signals upon emission as well as reception with variable, yet highly coordinated motion patterns of their noseleaves and pinnae.
Shuxin Zhang, Ruihao Wang, Xiaoyan Yin, Luhui Yang, Rolf Müller   +4 more
wiley   +1 more source

Expanding the Spectrum: A Rare Case of Morquio Syndrome With Bronchial Asthma and Seizure Disorder. [PDF]

Clin Case Rep
Bastola B, Dahal S, Acharya RR, Sah M, Wagle P.   +4 more
europepmc   +1 more source

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis

Animal Genetics, Volume 57, Issue 1, February 2026.
Abstract Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in ...
Stefan J. Rietmann, Joseph Malatos, Vidhya Jagannathan, Tosso Leeb   +3 more
wiley   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Effectiveness of meatoplasty techniques alone or as adjunct to other surgeries in chronic ear disease: A systematic review. [PDF]

SAGE Open Med
Aljehani M, Tawfiq I, Al-Muhawas F, Alsanosi A.   +3 more
europepmc   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 521-530, February 2026.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Satisfaction with the Quality of Life of Parents of Cleft Lip and Palate Patients Aged 8-12 Years, Tawanchai Center, Northeastern, Thailand. [PDF]

SAGE Open Med
Paggasang Y, Pradubwong S, Duangmun S, Saothonglang K, Chowchuen B.   +4 more
europepmc   +1 more source

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12‐Year‐Old Girl With Goltz–Gorlin Syndrome

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT We report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Anna Bolzon, Francesca Caroppo, Lisa Passaglia, Francesca Boaretto, Leonardo Salviati, Anna Belloni Fortina   +5 more
wiley   +1 more source

Hereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes. [PDF]

BMC Med Genomics
Bi J, Guo W, Ji P, Xie Y.
europepmc   +1 more source

Clock gene dysregulation in epilepsy: A systematic review

Epilepsia Open, Volume 11, Issue 1, Page 53-77, February 2026.
Abstract Objective Epileptic seizures show a rhythmic pattern, being more frequent at particular times of the day (e.g., only occurring during sleep), suggesting a role of the circadian rhythm. Clock genes regulate the circadian rhythm and might be involved in the pathophysiology of epilepsy.
Guilherme Fernandes‐Campos, Arjune Sen, Francesca Panin, Krithika Sundararaman   +3 more
wiley   +1 more source