Results 31 to 40 of about 235,287 (271)
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]
, 2020 Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E +30 more
core +2 more sources
Genomic analyses in African populations identify novel risk loci for cleft palate
Human Molecular Genetics, 2018 Orofacial clefts are common developmental disorders that pose significant clinical, economical and psychological problems. We conducted genome-wide association analyses for cleft palate only (CPO) and cleft lip with or without palate (CL/P) with ~17 ...
A. Butali +70 more
semanticscholar +1 more source
Three-dimensional cephalometric evaluation of maxillary growth following in utero repair of cleft lip and alveolar-like defects in the mid-gestational sheep model [PDF]
, 2006 Objective: To evaluate maxillary growth following in utero repair of surgically created cleft lip and alveolar (CLA)-like defects by means of three-dimensional (3D) computer tomographic (CT) cephalometric analysis in the mid-gestational sheep model ...
Adzick NS +45 more
core +1 more source
Health professional communication and the diagnosis and care of infants born with cleft lip and palate in the U.K. [PDF]
, 2016 Objectives A qualitative study was conducted to explore family experiences of communication with health care professionals following the diagnosis and birth of a child with cleft lip and/or palate in the United Kingdom.
Ryan, Sara +2 more
core +3 more sources
Canadian Medical Association Journal, 2018 BACKGROUND: Patients with cleft lip and/or palate can undergo numerous procedures to improve appearance, speech, dentition and hearing. We developed a cleft-specific patient-reported outcome instrument to facilitate rigorous international measurement and
A. Klassen +24 more
semanticscholar +1 more source
Double Tongue Flaps for Anterior Huge Palatal Fistula Closure
Plastic and Reconstructive Surgery, Global Open, 2019 Summary:. Even though it is widely accepted that the tongue flap is effective and feasible for repair of huge palatal fistula, there still exist a few failed cases due to the severity or complicated situation.
Xia Zhou, MD, Lian Ma, PhD
doaj +1 more source
International Journal of Oral Science, 2021 Normal mammalian secondary palate development undergoes a series of processes, including palatal shelf (PS) growth, elevation, adhesion and fusion, and palatal bone formation. It has been estimated that more than 90% of isolated cleft palate is caused by
Weilong Liu +6 more
doaj +1 more source
Incidence of cleft lip and palate in Gorgan - Northern Iran: An epidemiological study [PDF]
, 2012 Objective: Cleft lip with or without cleft palate is the most common orofacial congenital anomaly among live births. This study was carried out to determine the incidence rate of oral clefting in Gorgan, Northern Iran during 2004-2009.
Golalipour, M.J. +3 more
core +2 more sources
Frontiers in Genetics, 2022 rs7590268 present on the 2p21 locus was identified to be associated with non-syndromic cleft lip with or without cleft palate (NSCL/P) in several populations, including the Chinese Han population, indicating that 2p21 was a susceptibility locus for NSCL ...
Mu-Jia Li +4 more
doaj +1 more source
A Review of the Effect of Age and Speech Stimulus on Nasalance Scores in Healthy Participants
مجله پژوهش در علوم توانبخشی, 2017 Introduction: Instrumental assessments can provide numerical values in nasality assessment. One of these instruments is the nasometer (Kay Elemetrics, Lincoln Park, NJ, USA). The nasometer measures the oral and nasal acoustic energy during speech and the
Saba Sadeghi +3 more
doaj +1 more source