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Chromosomal disorders

Assessing Specific Cognitive Deficits Associated with Dementia in Older Adults with Down Syndrome: Use and Validity of the Arizona Cognitive Test Battery (ACTB)

Amanda Sinai, Angela Hassiotis, Khadija Rantell, Andre Strydom

Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study

Laïla Allach El Khattabi, Christelle Rouillac-Le Sciellour, [ ... ], Jean-Michel Dupont

Developing an Informant Questionnaire for Cognitive Abilities in Down Syndrome: The Cognitive Scale for Down Syndrome (CS-DS)

Carla M. Startin, Erin Rodger, [ ... ], André Strydom

Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners

Antônio Francisco Alves da Silva, Filipe Brum Machado, [ ... ], Enrique Medina-Acosta

Trends in Respiratory Syncytial Virus and Bronchiolitis Hospitalization Rates in High-Risk Infants in a United States Nationally Representative Database, 1997–2012

Abigail Doucette, Xiaohui Jiang, [ ... ], Christopher S. Ambrose

Women’s Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study

Celine Lewis, Melissa Hill, Lyn S. Chitty

A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients

Aurore Curie, Amandine Brun, [ ... ], Vincent des Portes

False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review

Diane Van Opstal, Malgorzata I. Srebniak, [ ... ], Robert-Jan H. Galjaard

A Method to Quantify Cell-Free Fetal DNA Fraction in Maternal Plasma Using Next Generation Sequencing: Its Application in Non-Invasive Prenatal Chromosomal Aneuploidy Detection

Xu-Ping Xu, Hai-Yan Gan, [ ... ], Ying-Song Wu

Two-Dimensional Differential Gel Electrophoresis to Identify Protein Biomarkers in Amniotic Fluid of Edwards Syndrome (Trisomy 18) Pregnancies

Te-Yao Hsu, Hao Lin, [ ... ], Chang-Chun Hsiao

Olfaction in People with Down Syndrome: A Comprehensive Assessment across Four Decades of Age

Maria Paola Cecchini, Dario Viviani, [ ... ], Carlo Zancanaro

CD4⁺FOXP3⁺ Regulatory T Cells Exhibit Impaired Ability to Suppress Effector T Cell Proliferation in Patients with Turner Syndrome

Young Ah Lee, Hang-Rae Kim, [ ... ], Sei Won Yang

Comparison of Equivalence between Two Commercially Available S499-Phosphorylated FMRP Antibodies in Mice

Conner D. Reynolds, Gregory D. Smith, Taylor S. Jefferson, Joaquin N. Lugo

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