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EB

Erawati Bawle

Medical Genetics / Clinical Genetics (M.D.)

Credentials: ·

History

Pediatrics

Research

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome
Case report · European Journal of Human Genetics · 2010 · 261 citations
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects
Genetics in Medicine · 2010 · 91 citations
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency
Human Mutation · 2010 · 61 citations

AA
Alexander Asamoah
2 papers
AD
Angela Duker
2 papers
AE
Ayman El-Hattab
2 papers · 2 as a resident
Fernando Scaglia
2 papers
AM
Anwar Mohamed
1 paper
Aparna Joshi
1 paper
Aziz Alkatib
1 paper
BB
Bassem Bejjani
1 paper
BS
Beena Sood
1 paper
BP
Berkley Powell
1 paper
Brett Graham
1 paper
CL
Chia-Wen Lee
1 paper