Results 101 to 110 of about 221,108 (236)
Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A. [PDF]
, 2018 BackgroundMonogenic defects of synaptic vesicle (SV) homeostasis have been implicated in many neurologic diseases, including autism, epilepsy, and movement disorders.
Burns +20 more
core +1 more source
International Journal of Language &Communication Disorders, Volume 60, Issue 6, November/December 2025.ABSTRACT Purpose This study investigates early anatomic determinants influencing the likelihood of cleft speech characteristics (CSCs) in children with cleft palate with or without lip involvement (CP+/−L). The primary objective was to identify critical anatomic factors within the first year of life that impact the presence of CSCs at Age 3.
Kazlin Mason +3 more
wiley +1 more source
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot [PDF]
, 2010 Tetralogy of Fallot (TOF), the most frequent cyanotic congenital heart disease, is associated with a wide range of intra- and extracardiac phenotypes. We investigated genotype-phenotype correlation in a large cohort of 230 unselected patients with TOF ...
Hofbeck, M +9 more
core +1 more source
AcousticsA model of the vocal tract that mimicked velopharyngeal insufficiency was created, and acoustic analysis was performed using the boundary element method to clarify the acoustic characteristics of velopharyngeal insufficiency.
Mami Shiraishi +4 more
doaj +1 more source
The modified folded pharyngeal flap operation for the treatment of velopharyngeal insufficiency
JPRAS Open, 2017 Pharyngeal flaps have a long-established place in surgery for velopharyngeal insufficiency and many designs of pharyngeal flap have been described. Here we describe a modification of the folded pharyngeal flap operation by Issiki. With our procedure, the
Naoshige Iida +3 more
doaj +1 more source
Prótese obturadora palatina [PDF]
, 2016 Nos pacientes com defeitos ósseos palatinos congénitos ou adquiridos, quando a possibilidade de reconstrução cirúrgica não existe, poderá ter de se utilizar uma prótese obturadora palatina, com vista ao restabelecimento das funções do sistema ...
Vale, Soraia Magalhães
core
The modification of rotation - advancement flap made in 1950 [PDF]
, 2017 The early techniques of cleft lip repair involved the straight-line technique, the triangular flap technique or some kind of geometric line (triangular, quadrangular closure). A turning point in cleft lip surgery was in 1955 when doctor.
Blivajs, Igor +5 more
core +4 more sources
Modification of Dentofacial Growth Associated with Goldenhar Syndrome [PDF]
, 2017 The rare developmental defect, Goldenhar syndrome is characterized by complex craniofacial and dentofacial anomalies. Here we describe the successful orthodontic treatment of a 5-year-old Japanese Goldenhar syndrome patient with mild facial asymmetry ...
Ei Ei Hsu Hlaing, +3 more
core +1 more source
Prosthodontic rehabilitation of velopharyngeal insufficiency with definitive obturator
Journal of Cleft Lip Palate and Craniofacial Anomalies, 2017 Velopharyngeal insufficiency resulted from the defect in soft palate due to acquired or congenital reasons, which cause incomplete closure of the palatopharyngeal sphincter.
Puja Hazari +2 more
doaj +1 more source
Study of relationship between clinical factors and velopharyngeal closure in cleft palate patients
Journal of Research in Medical Sciences, 2011 Background: This study was carried out to analyze the relationship between clinical factors and velopharyngeal closure (VPC) in cleft palate patients. Methods: Chi-square test was used to compare the postoperative velopharyngeal closure rate.
Qi Chen +5 more
doaj