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Michael Bober

Physician · SIDNEY KIMMEL MEDICAL COLLEGE AT THOMAS JEFFERSON UNIVERSITY

Credentials: · · · · ·

History

SIDNEY KIMMEL MEDICAL COLLEGE AT THOMAS JEFFERSON UNIVERSITY
Present

Medical Genetics and Genomics
Johns Hopkins Hospital
1998–2000
Pediatrics
Tulane University School of Medicine
1996–1998
Tulane University
Tulane University School of Medicine
1992–1996

Research

Enzyme-replacement therapy in life-threatening hypophosphatasia
New England Journal of Medicine · 2012 · 404 citations
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
Case report · Nature Genetics · 2011 · 209 citations
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA
Science · 2011 · 182 citations

AD
Angela Duker
35 papers
Julie Hoover-Fong
27 papers
WM
William Mackenzie
23 papers
Cathleen Raggio
13 papers
Janet Legare
13 papers
Klane White
13 papers
WM
William Mackenzie
13 papers · 6 as a fellow
CD
Colleen Ditro
12 papers
RP
Richard Pauli
10 papers
RC
Ricki Carroll
10 papers · 1 as a fellow
Cory Smid
9 papers
Carlos Bacino
8 papers

Clinical trials

RCDP Natural History Study
Principal investigator · Unknown
MED-LIFE DISCOVERIES LP
2019–2021
C-Type Natriuretic Peptide and Achondroplasia
Principal investigator · Completed
Nemours Children's Clinic
2012–2014