Concepedia

Surasawadee Ausavarat

SA

Statistics

Publications

7

Citations

367

H-Index

7

Active since

2006

Affiliations

King Chulalongkorn Memorial Hospital(Current)

Chulalongkorn University

National Human Genome Research Institute

National Institutes of Health

Surasawadee Ausavarat is an author at King Chulalongkorn Memorial Hospital specializing in molecular genetics, genetics, and medical genetics.

Publications per year

2006–2016

7

Publications

7

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat et al. · Nature Communications · 2016 · 143 citations · Full text

, , +17

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis

Meral Gunay‐Aygun, M. Tuchman, Esperanza Font–Montgomery et al. · Molecular Genetics and Metabolism · 2009 · 100 citations · Full text

, , +15

A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28

Patra Yeetong, Surasawadee Ausavarat, Roongroj Bhidayasiri et al. · European Journal of Human Genetics · 2012 · 62 citations

, , +12

A Novel Mutation in EFNB1, Probably with a Dominant Negative Effect, Underlying Craniofrontonasal Syndrome

Vorasuk Shotelersuk, Pichit Siriwan, Surasawadee Ausavarat · The Cleft Palate-Craniofacial Journal · 2006 · 22 citations

, , +15

Two novel EBP mutations in Conradi-Hünermann-Happle syndrome.

Surasawadee Ausavarat, Pranoot Tanpaiboon, Siraprapa Tongkobpetch et al. · PubMed · 2008 · 15 citations

, , +13

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