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Surasawadee Ausavarat · SciRah

Researcher profile · Semantic Scholar

Surasawadee Ausavarat

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Surasawadee Ausavarat — researcher profile on SciRah

h-index: 8
Works: 13
Citations: 373

Most-cited papers

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat, S. Tongkobpetch +17 more
2016Nature Communications129 citations Open access
Semantic Scholar
PKHD1 Sequence Variations in 78 Children and Adults with Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis
M. Gunay-Aygun, M. Tuchman, Esperanza Font-Montgomery, Linda Lukose +11 more
2009Molecular Genetics and Metabolism101 citations Open access
Semantic Scholar
A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28
Patra Yeetong, Surasawadee Ausavarat, R. Bhidayasiri, K. Piravej +7 more
2012European Journal of Human Genetics64 citations Open access
Semantic Scholar
A Novel Mutation in EFNB1, Probably with a Dominant Negative Effect, Underlying Craniofrontonasal Syndrome
Vorasuk Shotelersuk, P. Siriwan, Surasawadee Ausavarat
2006The Cleft Palate-Craniofacial Journal24 citations
Semantic Scholar
PTPRF is disrupted in a patient with syndromic amastia
Surasawadee Ausavarat, S. Tongkobpetch, V. Praphanphoj, Charan Mahatumarat +6 more
2011BMC Medical Genetics15 citations Open access
Semantic Scholar
Two novel EBP mutations in Conradi-Hünermann-Happle syndrome.
Surasawadee Ausavarat, P. Tanpaiboon, S. Tongkobpetch, K. Suphapeetiporn +1 more
2008EJD. European journal of dermatology15 citations
Semantic Scholar
A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I
Korrakot Prommajan, Surasawadee Ausavarat, C. Srichomthong, V. Puangsricharern +2 more
2011Molecular Vision10 citations
Semantic Scholar
Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome.
Surasawadee Ausavarat, P. Leoyklang, P. Vejchapipat, V. Chongsrisawat +2 more
2009World Journal of Gastroenterology10 citations Open access
Semantic Scholar
Circulating thyrotropin receptor messenger ribonucleic acid is not an effective marker in the follow-up of differentiated thyroid carcinoma
Surasawadee Ausavarat, J. Sriprapaporn, B. Satayaban, W. Thongnoppakhun +4 more
2015Thyroid Research5 citations Open access
Semantic Scholar
Evaluation of common genetic risk factors for differentiated thyroid cancer in the Thai population.
Patra Yeetong, Aunchalee Laipiriyakun, J. Sriprapaporn, Surasawadee Ausavarat
2025Biomedical Reports0 citations Open access
Semantic Scholar
Functional Sensitivity and Dilution for Serum Thyroglobulin Measurement in Differentiated Thyroid Carcinoma
Aunchalee Laipiriyakun, B. Satayaban, B. Amornkitticharoen, J. Sriprapaporn +1 more
20180 citations
Semantic Scholar
First X-linked form of osteogenesis imperfecta, caused by mutations in MBTPS2, demonstrates a fundamental role for regulated intramembrane proteolysis in normal bone formation
Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat, S. Tongkobpetch +16 more
20160 citations
Semantic Scholar
Identification of a gene responsible for bilateral amastia with ectodermal dysplasia
Surasawadee Ausavarat
20090 citations
Semantic Scholar

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Vorasuk Shotelersuk×8
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Vorasuk Shotelersuk — researcher profile on SciRah
K. Suphapeetiporn×7
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K. Suphapeetiporn — researcher profile on SciRah
S. Tongkobpetch×4
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S. Tongkobpetch — researcher profile on SciRah
Patra Yeetong×4
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J. Sriprapaporn

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Aunchalee Laipiriyakun×3

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Uschi Lindert×2

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Wayne A. Cabral×2

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