Stephanie E Chiuve

Stephanie E Chiuve

Associate Director of Epidemiology, Baxalta / Adjunct Assistant Professor Harvard TH Chan …
在 hsph.harvard.edu 的电子邮件经过验证
被引用次数：88572
Epidemiology nutrition cardiovascular disease rare disease pharmacoepidemiology
Prof. dr. Jan A.M. Smeitink

Prof. dr. Jan AM Smeitink

Professor in Mitochondrial Medicine
在 radboudumc.nl 的电子邮件经过验证
被引用次数：39429
mitochondrial disease mitochondrial medicine orphan disease rare disease
Kaitlin E. Samocha

Kaitlin E. Samocha

Massachusetts General Hospital
在 partners.org 的电子邮件经过验证
被引用次数：33736
Genomics Constraint Rare Disease
Hanns Lochmüller, MD, FAAN

Hanns Lochmüller, MD, FAAN

CHEO Research Institute and The Ottawa Hospital
在 toh.ca 的电子邮件经过验证
被引用次数：32908
neuromuscular disorders genomics rare disease congenital myasthenic syndromes neurology
Seng H. Cheng

Seng H. Cheng

Senior Vice President & Chief Scientific Officer, Rare Disease
在 pfizer.com 的电子邮件经过验证
被引用次数：31461
rare disease gene therapy
Anne O'Donnell-Luria

Anne O'Donnell-Luria

Co-Director for the Broad Center for Mendelian Genomics, Broad Institute of MIT and …
在 broadinstitute.org 的电子邮件经过验证
被引用次数：22580
rare disease gene discovery incomplete penetrance human phenotyping epigenetics
Aurora Pujol

Aurora Pujol

Professor of Genetics and Neuroscience, IDIBELL, ICREA Barcelona Spain
在 idibell.cat 的电子邮件经过验证
被引用次数：22099
Genomic Medicine genetics neuroscience rare disease leukodystrophies
Hywel Williams

Hywel Williams

Senior Lecturer, Cardiff University
在 cardiff.ac.uk 的电子邮件经过验证
被引用次数：19411
genetics genomics rare disease
Jeremy Schwartzentruber

Jeremy Schwartzentruber

Illumina Artificial Intelligence Lab
在 illumina.com 的电子邮件经过验证
被引用次数：17873
genomics gene regulation alzheimer's disease cancer rare disease
Benoit Miotto

Benoit Miotto

INSTITUT COCHIN (CNRS UMR8104, INSERM U1016, Université Paris Cité)
在 inserm.fr 的电子邮件经过验证
被引用次数：15790
DNA replication Epigenetics Cell fate Cancer Rare Disease
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