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Down syndrome

Phonological awareness in Urdu language speaking children with down syndrome (DS)

Maimoona Khalil, Nazia Mumtaz, Ghulam Saqulain, Farheen Naz Anis

published 12 Jun 2026

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Prevalence of multiple morbidities and cancers in individuals with Down syndrome: A matched descriptive study using linked electronic health record data

Caoimhe McKenna, Kabir Yoshinori Khanna, Meghan A. Cupp, Darlington David Faijue, Anne G.M. Schilder, Arturo Gonzalez-Izquierdo, Muhammad Qummer ul Arfeen, Andre Strydom, Dougal Hargreaves, Rachel Xue Ning Lee, Monica Lakhanpaul, Logan Manikam

published 03 Jun 2026

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Clinical profile and hospital outcomes of children with Down syndrome diagnosed with congenital heart disease in a developing country: A retrospective study

Zawadi Edward Kalezi, Jimmy France Mchalange, Naizihijwa Gadi Majani, Alphonce Nsabi Simbila, Vivienne Aiyana Mlawi, Deogratias Arnold Nkya, Peter Richard Kisenge

published 06 Apr 2026

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Clinical application of fetal Nuchal Translucency combined with noninvasive prenatal testing in screening chromosome abnormalities

Guangzhen Fu, Shuang Hu

published 16 Mar 2026

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Caregiver-reported social impacts in down syndrome regression disorder

Katherine N. Chow, Lilia Kazerooni, Maeve C. Lucas, Samuel T. Otey, Mariam M. Yousuf, Ruth Brown, Eileen A. Quinn, Jonathan D. Santoro

published 04 Feb 2026

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Elevated mortality and upregulated SARS-CoV-2-associated pathways in innate and adaptive immune cells from individuals with Down syndrome

Daniella Balduino Victorino, Jackeline Moraes Malheiros, Felipe Ten-Caten, Victor Hugo Cardoso Betta, Felipe Farinha Saad Barbosa, Khader Ghneim, Fernanda Caroline Coirada, Fernanda Romano Bruno, Giuliana Xavier de Medeiros, Cassia Silveira, Christina Gavegnano, Robert Balderas, Ana Claudia Brandao, Edward Yang, Helder Nakaya, Gabriela A. Wagner, Luciene Covolan, Susan Pereira Ribeiro

published 05 Jan 2026

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Genetic etiology and pregnancy outcomes of abnormal fluid accumulation in fetus: A retrospective cohort study

Meiying Cai, Na Lin, Linjuan Su, Meimei Fu, Hailong Huang, Liangpu Xu

published 16 Dec 2025

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Cell-free DNA screening for trisomies 21, 18, and 13: Clinical application and accuracy evaluation

Xiangmei Sun, Yuyi Ying, Caiping Chen, Xiaoliang Shi

published 08 Oct 2025

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A comparison of DNA methylation detection between HiFi sequencing and whole genome bisulfite sequencing in monozygotic twins with Down syndrome

Kanyanee Promsawan, Chalurmpon Srichomthong, Monnat Pongpanich, Vorasuk Shotelersuk

published 05 Aug 2025

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Rare and novel variant load threshold for KIF7, GJA1 and PDE1C genes elevates the risk of severity of congenital heart defects in Down syndrome

Agnish Ganguly, Samudra Pal, Srilagna Chatterjee, Madhusudan Das, Sumantra Sarkar, Sujay Ghosh

published 26 Jun 2025

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Progression of keratoconus in the contralateral eye following acute corneal hydrops: A retrospective study

James Steven Lewis, Charles N.J. McGhee, Jay Meyer

published 22 May 2025

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Prevalence of ophthalmic abnormalities and refractive changes in Taiwanese children with Down syndrome

Chia-Ping Chen, Tzu-Hsun Tsai, Yao-Lin Liu, Ni-Chung Lee, Che-Ning Yang, Chao-Wen Lin

published 21 May 2025

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Perception of four intellectual and developmental disabilities based on search engine and news portrayal

Lillian J. Droscha, Sophia Chung, Zoe Li-Khan, Ashley Scott, Eric Rubenstein

published 10 Feb 2025

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