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Geselecteerde datamodellen

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- 11-12-22 - 5 Formulieren, 1 Itemgroep, 5 Data-elementen, 1 Taal
Itemgroep: pht003977
Principal Investigator: Richard Lifton, Yale University, New Haven, CT, USA MeSH: Familial Idiopathic Pulmonary Fibrosis,Aortic Coarctation,Aortic Stenosis, Supravalvular,Aortic Valve, Bicuspid,Arteries,Blepharophimosis,Bronchiectasis,Carcinoma, Renal Cell,Cardiomyopathies,Ciliary Motility Disorders,Cleft Palate,Congenital Abnormalities,Diaphragmatic Hernia,Ductus Arteriosus, Patent,Gastroschisis,Heart Defects, Congenital,Heart Septal Defects, Atrial,Heart Valve Diseases,Hemangioma,Hereditary Sensory and Autonomic Neuropathies,Hydrocephalus,Hyper-IgM Immunodeficiency Syndrome,Hyperaldosteronism,Hypertension,Ichthyosiform Erythroderma, Congenital,Idiopathic Pulmonary Fibrosis,Lung Diseases, Interstitial,Muscular Atrophy, Spinal,Neuroblastoma,Pneumothorax,Pulmonary Atresia,Pulmonary Valve Stenosis,Rett Syndrome,Spina Bifida,Tetralogy of Fallot,Transposition of Great Vessels,Tricuspid Atresia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000744 Yale University is home to one of three national centers created by the NIH to study the genetics of rare inherited diseases. Researchers at Yale, the University of Washington, and a center operated jointly by Baylor and Johns Hopkins University will analyze the genomes of thousands of patients who suffer from more than 6,000 rare Mendelian disorders affecting more than 25 million individuals in US. The Centers for Mendelian Genomics will apply next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian disorders. The discovery of new genes that cause Mendelian conditions will expand our understanding about their biology to facilitate their diagnosis, and potentially indicate new treatments. The Centers for Mendelian Genomics will provide free exome sequencing and analysis to collaborating investigators for qualified phenotypes. If you are interested in working with the CMG to discover the genetic basis of a Mendelian condition, please contact Yale Center (shrikant.mane@yale.edu) for further information.

pht003978.v4.p2

1 Itemgroep 3 Data-elementen

pht003979.v4.p2

1 Itemgroep 7 Data-elementen

pht003980.v4.p2

1 Itemgroep 2 Data-elementen

pht003976.v4.p2

1 Itemgroep 2 Data-elementen
- 12-10-22 - 4 Formulieren, 1 Itemgroep, 2 Data-elementen, 1 Taal
Itemgroep: IG.elig

pht002172.v1.p1

1 Itemgroep 2 Data-elementen

pht002173.v1.p1

1 Itemgroep 12 Data-elementen

pht002171.v1.p1

1 Itemgroep 3 Data-elementen
- 20-09-21 - 16 Formulieren, 16 Itemgroepen, 68 Data-elementen, 1 Taal
Itemgroepen: Therapy cycle 10-13, Therapy after cycle, Propranolol, Propranolol therapy deviation, Celecoxib, Celecoxib deviation, Cyclophosphamide, Cyclophosphamide deviation, Vinblastine, Vinblastine deviation, Toxicity overview, Toxicity, Hospitalization, Comments, Transfusion, Footer module

Therapy and toxicity cycle > 13

16 Itemgroepen 68 Data-elementen

Therapy and toxicity cycle 1-3

16 Itemgroepen 68 Data-elementen

Therapy and toxicity cycle 4-6

16 Itemgroepen 68 Data-elementen

Therapy and toxicity cycle 7-9

16 Itemgroepen 68 Data-elementen

Baseline

13 Itemgroepen 77 Data-elementen

Reference

12 Itemgroepen 111 Data-elementen

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