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Chromosomal disorders

Caregiver-reported social impacts in down syndrome regression disorder

Katherine N. Chow, Lilia Kazerooni, [ ... ], Jonathan D. Santoro

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, [ ... ], Susan Pereira Ribeiro

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

Meiying Cai, Na Lin, [ ... ], Liangpu Xu

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

Xiangmei Sun, Yuyi Ying, Caiping Chen, Xiaoliang Shi

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

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, [ ... ], Sujay Ghosh

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

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

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

Chia-Ping Chen, Tzu-Hsun Tsai, [ ... ], Chao-Wen Lin

Frontal cortex hyperactivation and gamma desynchrony in Fragile X syndrome: Correlates of auditory hypersensitivity

Ernest V. Pedapati, Lauren E. Ethridge, [ ... ], Craig A. Erickson

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

Lillian J. Droscha, Sophia Chung, [ ... ], Eric Rubenstein

Reduction of Cystatin B results in increased cathepsin B activity in disomic but not Trisomy 21 human cellular and mouse models

Yixing Wu, Karen Cleverley, Frances K. Wiseman

Comparison between DSQIID total / sub-item scores and plasma p-tau elevation in adults with Down’s syndrome

Makiko Shinomoto, Chisen Takeuchi, [ ... ], Takashi Kasai

Vocational identity in decision-making for terminating/continuation of pregnancy following non-invasive prenatal testing and hypothetical diagnosis among Japanese university students

Shodai Sunagozaka, Atsuro Tsutsumi

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