Results 91 to 100 of about 11,209 (293)

Assessing Attentional Bias in Secondary Cleft Lip Deformities: An Eye-Tracking Study

, 2018
Objective: Using a well-established measure of attention, we aimed to objectively identify differences in severity between types of simulated secondary cleft lip deformities.
Alexander Morzycki, Paul Hong, Alison Wong, Michael Bezuhly   +3 more
core   +1 more source

Thread Lifting of the Nose: Fully Comprehensive Approach to the Technique

, 2023
Background:. Nose thread lifting is a relatively recent technique. It offers a chance to approach nose morphology defects without turning to surgery to obtain a temporary improvement.
Luciano Lanfranchi, MD, MSc, Constantin Sulamanidze, MD, Alberto Diaspro, MD, MSc   +2 more
core   +1 more source

Oxygen‐Driven Structural Reorganization by Trace Water Enabling Fast Li‐Ion Transport in a Pliable Solid Electrolyte

Advanced Energy Materials, EarlyView.
Trace water is acting as a constructive mediator in 2LiCl–GaF3, markedly increasing ionic conductivity while reorganizing local coordination. Hydration creates localized Li+ solvation environments and partially dissociates ion pairs, enhancing Li‐ion mobility.
Youngkyung Kim, Jae‐Seung Kim, Kwang Ho Shin, Jingyu Choi, Beom Jin Park, Jinyeong Choe, Jiwon Seo, Chanhyun Park, Jeongjae Lee, Dong‐Hwa Seo, Sung‐Kyun Jung   +10 more
wiley   +1 more source

External Nasal Deformity (Broad Nose) [PDF]

The Laryngoscope, 1915
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openaire   +1 more source

Mechanisms of Alkali Ionic Transport in Amorphous Oxyhalides Solid State Conductors

Advanced Energy Materials, EarlyView.
Large‐scale machine learning‐based molecular dynamics simulations are used to investigate isovalent amorphous oxyhalides, revealing a remarkable chemically independent ionic conductivity. A rigorous analysis of alkali residence times across different metal–anion environments identifies divalent anions as key diffusion bottlenecks.
Luca Binci, KyuJung Jun, Bowen Deng, Gerbrand Ceder   +3 more
wiley   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

A Comparative Analysis of Different Cartilage Grafts Used for Secondary Correction of Nasal Deformities in Cleft Lip and Palate Patients: A Case Series [PDF]

Journal of Postgraduate Medicine, Education and Research
Aim and background: The cleft lip nasal deformity (CLND) is characterized by numerous complex and interdependent deformities involving the soft tissues and skeleton of the nose.
Ankit Aggarwal, Raja Tiwari, R Manju, Komal Gupta, Maneesh Singhal   +4 more
doaj   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source