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Diagnosis Day Evaluation Report 2023

• Authors : Melbourne Genomics Health Alliance

Subjects: Genomics; Medical genetics (excl. cancer genetics); Implementation science and evaluation

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Inherited Diseases, Caregiving, and Social Networks

• Source: Inherited Diseases, Caregiving, and Social NetworksZajdel M, Davidson H, Lea D, Koehly LM. Links of we-talk to caregiver social network systems and health. J Fam

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TPO-Mimetic Use in Children for Hematopoietic Failure

• Authors : Amgen; Anjali Sharathkumar, Clinical Professor

• Source: Single Arm Prospective Open Label Pilot Study Evaluating Short-Term Safety and Efficacy of Romiplostim in Children With Inherited and Acquired Disorders of Hematopoietic

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Evaluation of Patient Access to People With Cystic Fibrosis (CF) and Healthcare Professionals

• Authors : University of Leeds; Cystic Fibrosis Trust; Leeds Beckett University

• Source: Evaluating the Feasibility, Benefits and Acceptability to Patients and Health Care Professionals of Providing Secure Access of Linked Secondary Care and Patient's Personal Health Records in Cystic

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Collection of Serum and Tissue Samples From Patients With Biopsy-Proved or Suspected Malignant Disease

• Source: Collection of Serum and Tissue Samples From Patients With Biopsy-Proved or Suspected Malignant DiseasesMerriman KM, Harmon SA, Belue MJ, Yilmaz EC, Blake Z, Lay NS, Phelps TE, Merino MJ, Parnes

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A Study to Assess the Genetic Variations in Bile Flow Disorders: Linking Progressive Familial Intrahepatic Cholestasis (PFIC)-Related Genes to Symptoms in Adults With Recurrent Cholestasis in Spain (REGENIC)

• Source: Characterization of Progressive Familial Intrahepatic Cholestasis (PFIC)-Related Genes in Adult Patients With Idiopathic Recurrent and Chronic Cholestasis in Spain - REGENIC

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Genetics of Inherited Eye Disease

• Source: The Genetics of Inherited Eye DiseaseBender C, Woo EG, Guan B, Ullah E, Feng E, Turriff A, Tumminia SJ, Sieving PA, Cukras CA, Hufnagel RB. Predominant Founder

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Evaluation of Patients With Immune Function Abnormalities

• Source: Screening and Baseline Assessment of Patients With Abnormalities of Immune FunctionNoguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ. Interleukin-2

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Hematopoietic Stem Cells Transplantation in Children With Combined Immunodeficiency (CID) (CD45RA)

• Authors : URC-CIC Paris Descartes Necker Cochin

• Source: Hematopoietic Stem Cells Transplantation in Children With Combined Immunodeficiency (CID): Selective Depletion of Naive Cells From the GraftTouzot F, Neven B, Dal-Cortivo L, Gabrion A, Moshous

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Nucleoside Therapy in Patients With Telomere Biology Disorders

• Authors : Suneet Agarwal, Physician

• Source: Nucleoside Therapy in Patients With Telomere Biology DisordersMannherz W, Agarwal S. Thymidine nucleotide metabolism controls human telomere length. Nat Genet. 2023 Apr;55(4):568-580. doi:

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