Results 191 to 200 of about 486,952 (297)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates +6 more
wiley +1 more source
Differences in consonant confusion patterns between bimodal cochlear implant users with greater and less bimodal advantage. [PDF]
Front PsycholYoon YS, Majidpour A.
europepmc +1 more source
Studies on Impact Extrusion (3rd Report). Mainly on Earing Behaviors of Extruded Zinc Shells
, 1954 Isao Goky ucirc, Hisashi Suzuki
openalex +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss +8 more
wiley +1 more source
CEHD: A Unified Framework for Detection and Height Estimation of Fresh Corn Ears in Field Conditions. [PDF]
Plants (Basel)Wang H, Li Y, Fu J, Fu Q, Qiao Y.
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani +17 more
wiley +1 more source
Environmental exposure to air pollution and climate: Intersecting the impact on ear and nose health and chemosensory function (Review). [PDF]
Int J Mol MedZhang YC +8 more
europepmc +1 more source