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[HTML][HTML] Updated clinical practice recommendations for managing children with 22q11. 2 deletion syndrome
S Oskarsdottir, E Boot, TB Crowley, JCY Loo… - Genetics in …, 2023 - Elsevier
This review aimed to update the clinical practice guidelines for managing children and
adolescents with 22q11. 2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society, the …
adolescents with 22q11. 2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society, the …
[HTML][HTML] Updated clinical practice recommendations for managing adults with 22q11. 2 deletion syndrome
E Boot, S Óskarsdóttir, JCY Loo, TB Crowley… - Genetics in …, 2023 - Elsevier
This review aimed to update the clinical practice guidelines for managing adults with 22q11.
2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society recruited expert clinicians …
2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society recruited expert clinicians …
[HTML][HTML] Chromosome 22q11. 2 deletion syndrome: A comprehensive review of molecular genetics in the context of multidisciplinary clinical approach
A Szczawińska-Popłonyk, E Schwartzmann… - International journal of …, 2023 - mdpi.com
The 22q11. 2 deletion syndrome is a multisystemic disorder characterized by a marked
variability of phenotypic features, making the diagnosis challenging for clinicians. The wide …
variability of phenotypic features, making the diagnosis challenging for clinicians. The wide …
Speech-language disorders in 22q11. 2 deletion syndrome: best practices for diagnosis and management
Purpose Speech and language disorders are hallmark features of 22q11. 2 deletion
syndrome (22qDS). Learning disabilities, cognitive deficits, palate abnormalities …
syndrome (22qDS). Learning disabilities, cognitive deficits, palate abnormalities …
22q11 deletion syndrome: current perspective
Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy
repeats or segmental duplications. This region of the chromosome is very unstable and …
repeats or segmental duplications. This region of the chromosome is very unstable and …
[HTML][HTML] Hard to swallow: developmental biological insights into pediatric dysphagia
Pediatric dysphagia—feeding and swallowing difficulties that begin at birth, last throughout
childhood, and continue into maturity—is one of the most common, least understood …
childhood, and continue into maturity—is one of the most common, least understood …
Velopharyngeal structural and muscle variations in children with 22q11. 2 deletion syndrome: an unsedated MRI study
Objective: The 22q11. 2 deletion syndrome (22q11. 2DS) is the most common genetic cause
of velopharyngeal dysfunction; however, limited information exists regarding variations in …
of velopharyngeal dysfunction; however, limited information exists regarding variations in …
Estimates of the prevalence of speech and motor speech disorders in youth with 22q11. 2 deletion syndrome
Purpose Speech sound disorders and velopharyngeal dysfunction are frequent features of
22q11. 2 deletion syndrome (22q). We report the first estimate of the prevalence of motor …
22q11. 2 deletion syndrome (22q). We report the first estimate of the prevalence of motor …
Palatal evaluation and treatment in 22q11. 2 deletion syndrome
O Jackson, TB Crowley, R Sharkus… - American Journal of …, 2019 - Wiley Online Library
Palatal involvement occurs commonly in patients with 22q11. 2 Deletion Syndrome (22qDS),
and includes palatal clefting and velopharyngeal dysfunction in the absence of overt or …
and includes palatal clefting and velopharyngeal dysfunction in the absence of overt or …
Preliminary development of an MRI atlas for application to cleft care: findings and future recommendations
Objective To introduce a highly innovative imaging method to study the complex
velopharyngeal (VP) system and introduce the potential future clinical applications of a VP …
velopharyngeal (VP) system and introduce the potential future clinical applications of a VP …