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Genetic Identification of Monogenic Disorders in Early-onset Stroke Using Targeted Next Generation Sequencing Panel (MDEOS)

• Authors : Beijing Municipal Science & Technology Commission; Yongjun Wang, Executive Vice-President

• Source: Genetic Identification of Monogenic Disorders in Early-onset Stroke Using Targeted Next Generation Sequencing Panel

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Delineation of Novel Monogenic Disorders in the United Arab Emirates Population

• Source: Delineation of Novel Monogenic Disorders in the United Arab Emirates1- Chial H. Rare Genetic

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Non-invasive Prenatal Diagnosis of Monogenic Disorders by Linked-reads Technology (NID)

• Source: Universal Haplotype-Based Non Invasive Prenatal Diagnosis by Linked-Read Sequencing (10XGenomics™ Technology)

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Studies of Skin Microbes in Healthy People and in People With Skin Conditions

• Source: Studies of Skin Microflora in Healthy Individuals and Atopic Dermatitis PatientsOh J, Freeman AF; NISC Comparative Sequencing Program; Park M, Sokolic R, Candotti F, Holland SM, Segre JA, Kong

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Cell Based Non Invasive Prenatal Testing as an Alternative to Chorionic Villus Sampling Following Preimplantation Genetic Testing

• Authors : ARCEDI Biotech; Aarhus University Hospital; Viborg Regional Hospital ...

• Source: Evaluation of Cell-based Non-invasive Prenatal Testing as an Alternative to Chorionic Villus Sampling as a Tool to Confirm the Pregnancy With an Unaffected Fetus Following Preimplantation Genetic

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Cell-based Non-invasive Prenatal Testing as an Alternative to Invasive Chorionic Villus Sampling

• Authors : ARCEDI Biotech; Aarhus University Hospital; Christian Liebst Frisk Toft, Principal investigator, Molecular Biologist, ph.d.

• Source: Cell-based Non-invasive Prenatal Testing - Evaluation of Time of Blood Sampling and Whole Genome Amplification Prior to Genetic TestingToft CLF, Ingerslev HJ, Kesmodel US, Hatt L, Singh R, Ravn

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Gene-STEPS: Shortening Time of Evaluation in Paediatric Epilepsy Services (Gene-STEPS)

• Authors : Murdoch Childrens Research Institute; The Hospital for Sick Children; Boston Children's Hospital

• Source: Gene-STEPS: Shortening Time of Evaluation in Paediatric Epilepsy Services: a Multi-centre Prospective Evaluation of the Impact of Early Genetic Diagnosis on Patient Outcomes

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Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations

• Source: Natural History of Intestinal Inflammation in Patients With Primary Immune DysregulationsAgarwal S, Mayer L. Gastrointestinal manifestations in primary immune

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Multi-center Study to Validate niPGT-A (niPGT-A)

• Source: A Prospective, Observational, Multi-center, International Study to Validate a Non-invasive Preimplantation Genetic Test for Embryo Aneuploidy in the Spent Culture Media (niPGT-A).

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Study of a Deformability Parameter of Red Blood Cell (FITRED)

• Source: Study of a Deformability Parameter of Red Blood Cell. FITRED

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