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1 Resultados da pesquisa.

dbGaP phs000711 Baylor Hopkins Center for Mendelian Genomics (BH CMG) - pht003723.v6.p2

- 29/12/2022 - 5 Formulários, 1 Grupo de itens, 3 Elementos de dados, 1 Idioma

Grupo de itens: pht003723

Principal Investigator: Baylor Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, USA MeSH: Mendelian Conditions,Alstrom Syndrome,Arrhythmogenic Right Ventricular Dysplasia,Syndactyly,Craniofacial Abnormalities,Neurofibromatoses,Ullrich congenital muscular dystrophy,Aortic Aneurysm, Thoracic,Rubinstein-Taybi Syndrome,Acne Inversa,Achondroplasia,Exostoses, Multiple Hereditary,Arthrogryposis, Renal Dysfunction, And Cholestasis,Van Den Ende-Gupta Syndrome,BO Syndrome 3,SMDCRD,Loeys-Dietz Syndrome, Type 1a,Cardiomyopathy, Dilated,OI, Type VI,Sotos Syndrome,Charcot-Marie-Tooth Disease,Microcephaly https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000711 The Centers for Mendelian Genomics project uses next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian conditions. By discovering genes that cause Mendelian conditions, we will expand our understanding of their biology to facilitate diagnosis and new treatments.

pht003724.v6.p2

1 Grupo de itens 6 Elementos de dados

pht003722.v6.p2

1 Grupo de itens 2 Elementos de dados

pht003720.v6.p2

1 Grupo de itens 2 Elementos de dados

pht003721.v7.p2

1 Grupo de itens 6 Elementos de dados

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