Results 201 to 210 of about 43,400 (289)

Vertebral Cervical Fusion in Individuals with and without Open Bite: A Comparative Matched Study. [PDF]

J Clin Exp Dent
Angeles-Estrella L, Llaguno-Rubio JM, Fiori-Chincaro GA, Arriola-Guillén LE.   +3 more
europepmc   +1 more source

Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family. [PDF]

BMC Med Genet, 2018
Li J, Xie H, Jiang Y.
europepmc   +1 more source

Phenotypic Characterization of Five Children With PACS1‐NDD: Longitudinal Insights Into Development, Behavior, and Brain

Clinical Genetics, EarlyView.
Longitudinal multimodal assessment of five children with PACS1‐NDD revealed global developmental delays, prominent restricted and repetitive behaviors, relatively preserved social interest, heterogeneous language trajectories, and reduced gray and white matter volumes.
Fiona Journal, Nada Kojovic, Kenza Latrèche, Stefania Solazzo, Marie Schaer   +4 more
wiley   +1 more source

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

Clinical Genetics, EarlyView.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova, Olga Shatokhina, Daria Guseva, Nina Demina, Aleksander Polyakov, Oхana Ryzkova   +5 more
wiley   +1 more source

Machine learning approaches in automated infant General Movements Assessment: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Automated infant General Movements Assessment increasingly uses machine‐ and deep‐learning approaches to classify movement patterns and estimate cerebral palsy risk from video or sensor data. This scoping review highlights how dataset characteristics, recording environment, pose‐estimation accuracy, feature extraction, and model design influence system
Manpreet Kaur, Hamid Abbasi, Sîan A. Williams, Thor F. Besier, Angus J. C. McMorland   +4 more
wiley   +1 more source

<i>SRSF1</i> haploinsufficiency drives the neurodevelopmental phenotype of the 17q22 deletion syndrome. [PDF]

Front Med (Lausanne)
Wu Y, Gao C, Chen Z, Liu F, Yuan J, Cheng W.   +5 more
europepmc   +1 more source

Skeletal anomalies induced by Verapamil in rats

Annual Meeting of the Japanese Society of Toxicology, 2012
MURATA, Yuto, SEBORI, Rio, KATSUMATA, Hiroaki, HORIMOTO, Masao   +3 more
openaire   +1 more source

Climate Vulnerability of Australian Seafood Systems: A National Assessment of Exposure and Adaptive Capacity

Fisheries Oceanography, EarlyView.
ABSTRACT Marine waters are becoming warmer and acidified and experiencing more intense and longer heatwaves under climate change. These changes are already impacting marine ecosystems and seafood production, which are vital for supporting food security and economic productivity.
Stephanie Brodie, Laura K. Blamey, Ana Bugnot, Rodrigo H. Bustamante, Julia L. Blanchard, Lara Buhagiar, Elizabeth A. Fulton, Alistair J. Hobday, Éva E. Plagányi, Anthony J. Richardson, Richard Matear, Skipton N. C. Woolley, Rebecca Darbyshire   +12 more
wiley   +1 more source

Unmasking Turner Syndrome Via a Short Fourth Metacarpal in a Pediatric Wrist Injury. [PDF]

J Pediatr Clin Pract
O'Grady A, Ruiz MA, Staunton D, O'Grady P.   +3 more
europepmc   +1 more source

Occurrence of multiple congenital anomalies in Potamotrygon amandae (Elasmobranchii, Potamotrygoninae) embryos, including the first report of bicephaly

Journal of Fish Biology, EarlyView.
Abstract Reports of teratogenic embryos in elasmobranchs have been documented in multiple species, with proposed aetiologies including environmental disturbances, genetic mutations, predation, exposure to endocrine‐disrupting compounds and maternal stress.
Douglas de Castro Ribeiro, Raquel Lopes Queiroz, Cristiéle da Silva Ribeiro   +2 more
wiley   +1 more source