Suchergebnisse - "Turro, Ernest"

PubPharm (3)

1

Whole-genome sequencing of patients with rare diseases in a national health system

enthalten in: Nature | 2020

von Turro, E. | Astle, W. | Megy, K. | +160

2

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

enthalten in: Blood | 2016

von Stritt, S. | Nurden, P. | Turro, E. | +43

CommentIn: Blood. 2016 Jun 9;127(23 ):2781-2. - PMID 27282940

3

Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases

enthalten in: American journal of human genetics | 2016

von Greene, D. | NIHR BioResource | Richardson, S. | +1

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