Results 141 to 150 of about 318,763 (302)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source
Repair of Unilateral Cleft Lip using Mulliken’s Modification of Rotation Advancement [PDF]
, 2012 Unilateral cleft lip is not a simple and independent problem in all aspects. nasal deformity results from the cleft lip, maxillary hypoplasia, and abnormal muscular pull on the nasal structures, including abnormal muscular tension on the alar base and ...
정영수, 정휘동
core
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir +6 more
wiley +1 more source
Quantifying vacuum-like jets in heavy-ion collisions: a machine learning study
European Physical Journal C: Particles and FieldsThe modification of jets by interaction with the quark gluon plasma has been extensively established through the comparison of observables computed for samples of jets produced in nucleus-nucleus collisions and proton-proton collisions.
Miguel Crispim Romão +2 more
doaj +1 more source
Otolaryngologic Management related with Cleft Lip & Palate [PDF]
, 2007 Team approach for the management of cleft lip & palate patients is very important. Plastic surgeon, oral-maxillofacial surgeon, orthodontist, otolaryngologist, and speech therapist should be included in the team.
최홍식
core
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background The modified endoscopic Denker's (MED) approach provides access to all maxillary sinus (MS) walls for resection of various MS and retromaxillary pathologies, but the anteromedial maxilla has historically been resected. This study determined complication rates and outcomes following MED with pyriform aperture (PA) preservation ...
Yasser Almansour +5 more
wiley +1 more source
Volunteer Medical Service for Cleft Lip and Palate Patients in Tamky, Vietnam, 2013
, 2013 Our department has been participated on annual volunteer medical service for the cleft lip and palate patients in the provincial hospital of Quang Nam Province, Tamky, Vietnam, since 2011, in collaboration with Japanese team.
정승원, 정영수, 정휘동
core
Multiscale Modeling Approach of Slot Die Coating of Unidirectional Glass Fiber Fabric
Journal of Applied Polymer Science, EarlyView.2D macroscale and microscale computational fluid dynamic (CFD) models are combined in a multiscale approach to develop a model for slot die coating of glass fiber (GF) fabrics in cellulose nanocrystal (CNC) dispersion as a sizing. For slot die coating models with and without vacuum assist, the model is able to predict stable operating parameters which ...
Kim Anh Pham +4 more
wiley +1 more source