プロフィール

Stephanie E Chiuve

Associate Director of Epidemiology, Baxalta / Adjunct Assistant Professor Harvard TH Chan …

確認したメールアドレス: hsph.harvard.edu

被引用数: 93815

Epidemiology nutrition cardiovascular disease rare disease pharmacoepidemiology

Prof. dr. Jan AM Smeitink

Professor in Mitochondrial Medicine

確認したメールアドレス: radboudumc.nl

被引用数: 42565

mitochondrial disease mitochondrial medicine orphan disease rare disease

Kaitlin E. Samocha

Massachusetts General Hospital

確認したメールアドレス: partners.org

被引用数: 40587

Genomics Constraint Rare Disease

Hanns Lochmüller, MD, FAAN

CHEO Research Institute and The Ottawa Hospital

確認したメールアドレス: toh.ca

被引用数: 37367

neuromuscular disorders genomics rare disease congenital myasthenic syndromes neurology

Seng H. Cheng

Alexion, AstraZeneca Rare Disease

確認したメールアドレス: alexion.com

被引用数: 33539

rare disease gene therapy

Anne O'Donnell-Luria

Co-Director for the Broad Center for Mendelian Genomics, Broad Institute of MIT and …

確認したメールアドレス: broadinstitute.org

被引用数: 28851

rare disease gene discovery incomplete penetrance human phenotyping epigenetics

Aurora Pujol

Professor of Genetics and Neuroscience, IDIBELL, ICREA Barcelona Spain

確認したメールアドレス: idibell.cat

被引用数: 26145

Genomic Medicine genetics neuroscience rare disease leukodystrophies

Jeremy Schwartzentruber

Illumina Artificial Intelligence Lab

確認したメールアドレス: illumina.com

被引用数: 21062

genomics gene regulation alzheimer's disease cancer rare disease

Hywel Williams

Senior Lecturer, Cardiff University

確認したメールアドレス: cardiff.ac.uk

被引用数: 20837

genetics genomics rare disease

Benoit Miotto

INSTITUT COCHIN (CNRS UMR8104, INSERM U1016, Université Paris Cité)

確認したメールアドレス: inserm.fr

被引用数: 20182

DNA replication Epigenetics Cell fate Cancer Rare Disease

1 - 10