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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 …
Estimate of the contemporary live-birth prevalence of recurrent 22q11. 2 deletions: a cross-sectional analysis from population-based newborn screening
C Blagojevic, T Heung, M Theriault… - … Open Access Journal, 2021 - cmajopen.ca
Background: Although pathogenic 22q11. 2 deletions are an important cause of
developmental delays and lifelong disease burden, their variable and complex clinical …
developmental delays and lifelong disease burden, their variable and complex clinical …
22q11. 2 deletion syndrome
Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia
22q11. 2 deletion syndrome (22q11. 2DS) is a disorder caused by recurrent, chromosome‐
specific, low copy repeat (LCR)–mediated copy‐number losses of chromosome 22q11. The …
specific, low copy repeat (LCR)–mediated copy‐number losses of chromosome 22q11. The …
The genetics and epigenetics of 22q11. 2 deletion syndrome
Q Du, MT de la Morena, NSC van Oers - Frontiers in Genetics, 2020 - frontiersin.org
Chromosome 22q11. 2 deletion syndrome (22q11. 2del) is a complex, multi-organ disorder
noted for its varying severity and penetrance among those affected. The clinical problems …
noted for its varying severity and penetrance among those affected. The clinical problems …
[BOG][B] Medical statistics from scratch: an introduction for health professionals
D Bowers - 2019 - books.google.com
Correctly understanding and using medical statistics is a key skill for all medical students
and health professionals. In an informal and friendly style, Medical Statistics from Scratch …
and health professionals. In an informal and friendly style, Medical Statistics from Scratch …
Clinical manifestations of 22q11. 2 deletion syndrome
A Cirillo, M Lioncino, A Maratea… - Heart Failure …, 2022 - heartfailure.theclinics.com
DiGeorge syndrome (DGS), also known as" 22q11. 2 deletion syndrome"(22q11DS)(MIM#
192430# 188400), is a genetic disorder caused by hemizygous microdeletion of the long …
192430# 188400), is a genetic disorder caused by hemizygous microdeletion of the long …
Congenital heart diseases and cardiovascular abnormalities in 22q11. 2 deletion syndrome: from well‐established knowledge to new frontiers
M Unolt, P Versacci, S Anaclerio… - American journal of …, 2018 - Wiley Online Library
Congenital heart diseases (CHDs) and cardiovascular abnormalities are one of the pillars of
clinical diagnosis of 22q11. 2 deletion syndrome (22q11. 2DS) and still represent the main …
clinical diagnosis of 22q11. 2 deletion syndrome (22q11. 2DS) and still represent the main …
Human thymus in health and disease: Recent advances in diagnosis and biology
M Bosticardo, LD Notarangelo - Seminars in immunology, 2023 - Elsevier
The thymus is the crucial tissue where thymocytes develop from hematopoietic precursors
that originate from the bone marrow and differentiate to generate a repertoire of mature T …
that originate from the bone marrow and differentiate to generate a repertoire of mature T …