Results 141 to 150 of about 615,013 (286)

A 6-year Experience of Fetal Skeletal Anomalies Prenatal Diagnosis at Anomaly Clinic, Siriraj Hospital

Siriraj Medical Journal, 2006
Objective: The purposes of this study were to review the prevalence of skeletal dysplasias among fetal anomaly cases and to demonstrate common findings detected prenatally by ultrasonography. Methods: Twenty prenatal cases diagnosed of skeletal anomalies
Kusol Russameecharoen, Buraya Phattanachindakun, Siripong Swasdimongkol, Chanchai Vantanasiri, Sommai Viboonchard   +4 more
doaj  

Advances in vital‐sign prediction and early‐warning models for underground coal mine workers integrating environmental factors

Deep Underground Science and Engineering, EarlyView.
This review synthesizes advances in predicting miners' vital signs by integrating environmental monitoring (dust, temperature, and gas) with physiological data. It highlights multi‐source data fusion techniques and early‐warning models for enhanced occupational safety in underground coal mines.
Junji Zhu, Dawei Cui, Yingjie Liu, Yuntao Liang, Yue Zhang   +4 more
wiley   +1 more source

Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal Anomalies. [PDF]

Korean J Ophthalmol, 2020
Shin DH, Kim AR, Woo HI, Jang JH, Park WY, Kim BJ, Kim SJ.   +6 more
europepmc   +1 more source

A hierarchical adaptive strategy for selecting rheological models in intelligent backfill mining pipeline transportation systems

Deep Underground Science and Engineering, EarlyView.
This graphical abstract presents a hierarchical adaptive strategy for selecting rheological models in intelligent backfill pipeline transportation. Temperature, fly ash content, and water‐cement ratio jointly influence slurry rheological nonlinearity, which is quantified using the Model Fidelity Gain (ΔR2).
Defeng Wang, Xintao Song, Aixiang Wu, Yong Wang   +3 more
wiley   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Coarctation-like features from skeletal anomalies: recognising extrinsic compression in fetal echocardiography. [PDF]

BMJ Case Rep
Borthakur K, Mali N, Borthakur I.
europepmc   +1 more source

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in SCN4A. [PDF]

Front Neurol, 2020
Elia N, Nault T, McMillan HJ, Graham GE, Huang L, Cannon SC.   +5 more
europepmc   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Conundrum resolved by optical genome mapping in a 46,XY girl with difference in sex development and skeletal anomalies. [PDF]

JCEM Case Rep
Daghsni M, Guo F, Forsyth R, Reyes-Múgica M, Yatsenko SA, Witchel SF.   +5 more
europepmc   +1 more source

Corrigendum: Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A. [PDF]

Front Neurol, 2020
Elia N, Nault T, McMillan HJ, Graham GE, Huang L, Cannon SC.   +5 more
europepmc   +1 more source