Results 121 to 130 of about 12,849 (296)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +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

open access: yesAmerican 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   +18 more
wiley   +1 more source

Prevalence of Finger Sucking at Preschool Children in Bitola [PDF]

open access: yes, 2014
The aim of the study was to establish the prevalence of the habit,finger sucking at pre school children in Bitola. observational cross-sectional study conducted and 1607 children from 3 to 5 years old were included.
Ivanovska Zafirova, Beti   +1 more
core  

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston   +6 more
wiley   +1 more source

The Effect of Music-Reinforced Nonnutritive Sucking on State of Preterm, Low Birthweight Infants Experiencing Heelstick

open access: yes, 2008
This study examined the physiologic and behavioral effects of music-reinforced nonnutritive sucking (NNS) for preterm, low birthweight (LBW) infants experiencing heelstick.
Whipple, M. T.
core   +1 more source

Impact of Cattaneo–Christov Heat and Mass Flux on MHD Hybrid Nanofluid Flow Over an Extending Surface With Convective and Mass Flux Effects

open access: yesAsia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT This study investigates the flow of a magnetized hybrid nanofluid over a permeable stretching surface. The mass and thermal transport within the system is regulated using the Cattaneo–Christov flux theory. The fluid is additionally subjected to thermophoresis, chemical reaction, Brownian motion, and activation energy effects.
Ebrahem A. Algehyne   +6 more
wiley   +1 more source

Digit Sucking Habit And Association With Dental Caries And Oral Hygiene Status In Children

open access: yes, 2021
A habit is a routine of behavior or doing that is repeated regularly and tends to occur unconsciously. Oral habits such as thumb sucking, nail and finger biting, tongue thrusting, lip biting , bruxism, etc can produce deleterious and destructive effects ...
RAMAKRISHNAN, MAHESH   +2 more
core  

Radiation‐Absorptive Heat Transport in Buoyancy‐Driven MHD Nanofluids Flow With Cross‐Diffusion and Chemical Interaction Effects Over a Vertical Moving Plate

open access: yesAsia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT This article investigates the Soret–Dufour cross‐diffusion effects on radiation‐absorptive unsteady free‐convection of magnetized nanofluids (TiO2–water$$ {\mathrm{TiO}}_2\hbox{--} \mathrm{water} $$ and Cu–water$$ \mathrm{Cu}\hbox{--} \mathrm{water} $$) flow over a vertical moving permeable plate.
B. Prabhakar Reddy   +2 more
wiley   +1 more source

PEG Alternatives in Liposomal Nanocarriers: Physicochemical Characteristics and Sustainable Process Strategies

open access: yesAsia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT The global trend toward sustainable and intensified bioprocesses is driving innovation in the design and scalable synthesis of liposomal nanocarriers, a cornerstone of modern drug delivery. For decades, these nanosystems have relied exclusively on polyethylene glycol (PEG) for their sustained circulation in vivo, but they are currently ...
Chandra Has
wiley   +1 more source

Synergistic Physicochemical Inhibition of Reactive Shale Formations Using Hydrothermally Synthesized Hydroxyapatite Nickel Tungstate Nanocomposites in Water‐Based Drilling Fluids

open access: yesAsia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Wellbore instability driven by the volumetric expansion of reactive shale formations remains a primary operational challenge in modern drilling engineering, causing severe mechanical failures and substantial economic deficits. The objective of this study is to formulate and evaluate a novel dual‐action chemical additive capable of ...
Ghaleb Oriquat   +8 more
wiley   +1 more source

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