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Wehrle, Anika [Author]; Witkos, Tomasz M. [Author]; Unger, Sheila [Author]; Schneider, Judith [Author]; Follit, John A. [Author]; Hermann, Johannes [Author]; Welting, Tim [Author]; Fano, Virginia [Author]; Hietala, Marja [Author]; Vatanavicharn, Nithiwat [Author]; Schoner, Katharina [Author]; Spranger, Jürgen W. [Author]; Schmidts, Miriam [Author]; Zabel, Bernhard [Author]; Pazour, Gregory J. [Author]; Bloch-Zupan, Agnès [Author]; Nishimura, Gen [Author]; Superti-Furga, Andrea [Author]; Lowe, Martin [Author]; Lausch, Ekkehart [Author]

Hypomorphic mutations of TRIP11 cause dontochondrodysplasia

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... to E-book via Resolving system (Volltext ; freely accessible)

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Ann Arbor, Michigan: JCI Insight, 2019

Published in: JCI insight ; 4, 3 (2019), e124701$z2379-3708
Chaisrisawadisuk, Sarut; Vatanavicharn, Nithiwat; Khampalikit, Inthira; Moore, Mark H.

Multisuture craniosynostosis: a case report of unusual presentation of chromosome 14q32 deletion

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Springer Science and Business Media LLC, 2023

Published in: Child's Nervous System, 39 (2023) 5, Seite 1317-1322
Wasant, Pornswan; Sathienkijkanchai, Achara; Vatanavicharn, Nithiwat; Liammongkolkul, Somporn

AB124. Craniofacial anomalies: an experience at Siriraj Hospital

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AME Publishing Company, 2017

Published in: Annals of Translational Medicine, 5 (2017) S2, Seite AB124-AB124
Wasant, Pornswan; Sathienkijkanchai, Achara; Vatanavicharn, Nithiwat; Liammongkolkul, Somporn

AB127. Provision of medical genetic services in Thailand: Siriraj experience

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AME Publishing Company, 2017

Published in: Annals of Translational Medicine, 5 (2017) S2, Seite AB127-AB127
Charuvanij, Sirirat; Pattaragarn, Anirut; Wisuthsarewong, Wanee; Vatanavicharn, Nithiwat

Juvenile gout in methylmalonic acidemia

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Wiley, 2016

Published in: Pediatrics International, 58 (2016) 6, Seite 501-503
Vatanavicharn, Nithiwat; Ratanarak, Pisanu; Liammongkolkul, Somporn; Sathienkijkanchai, Achara; Wasant, Pornswan

Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: An eight-year experience

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Elsevier BV, 2012

Published in: Clinica Chimica Acta, 413 (2012) 13-14, Seite 1141-1144
Vatanavicharn, Nithiwat; Liammongkolkul, Somporn; Sakamoto, Osamu; Sathienkijkanchai, Achara; Wasant, Pornswan

Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia

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Wiley, 2011

Published in: Pediatrics International, 53 (2011) 6, Seite 990-994
Vatanavicharn, Nithiwat; Lachman, Ralph S.; Rimoin, David L.

Multilayered patella: Similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia

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Wiley, 2008

Published in: American Journal of Medical Genetics Part A, 146A (2008) 13, Seite 1682-1686
Liammongkolkul, Somporn; Boonyawat, Boonchai; Vijarnsorn, Chodchanok; Tim‐Aroon, Thipwimol; Wasant, Pornswan; Vatanavicharn, Nithiwat

Phenotypic and molecular features of Thai patients with primary carnitine deficiency

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Wiley, 2023

Published in: Pediatrics International, 65 (2023) 1
Chaisrisawadisuk, Sarut; Vatanavicharn, Nithiwat; Praphanphoj, Verayuth; Anderson, Peter J.; Moore, Mark H.

Bilateral squamosal synostosis: unusual presentation of chromosome 1p12–1p13.3 deletion. Illustrative case

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Journal of Neurosurgery Publishing Group (JNSPG), 2021

Published in: Journal of Neurosurgery: Case Lessons, 1 (2021) 3
Ngiwsara, Lukana; Svasti, Jisnuson; Cairns, James; Champattanachai, Voraratt; Vatanavicharn, Nithiwat; Wasant, Pornswan; Kuptanon, Chulaluck; Wattanasirichaigoon, Duangrurdee

AB009. Biochemical and molecular research on lysosomal storage disorders in Thai patients

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AME Publishing Company, 2017

Published in: Annals of Translational Medicine, 5 (2017) S2, Seite AB009-AB009
Vatanavicharn, Nithiwat; Liammongkolkul, Somporn; Boonyawat, Boonchai; Sathienkijkanchai, Achara; Wasant, Pornswan; Yamaguchi, Seiji

AB059. Clinical, biochemical, and molecular features of Thai patients with multiple acyl-CoA dehydrogenase deficiency

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AME Publishing Company, 2017

Published in: Annals of Translational Medicine, 5 (2017) S2, Seite AB059-AB059
Liammongkolkul, Somporn; Sanomcham, Kasinat; Vatanavicharn, Nithiwat; Sathienkijkanchai, Achara; Ranieri, Enzo; Wasant, Pornswan

AB133. Expanded newborn screening program in Thailand

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AME Publishing Company, 2017

Published in: Annals of Translational Medicine, 5 (2017) S2, Seite AB133-AB133
Sawangareetrakul, Phannee; Ketudat Cairns, James R.; Vatanavicharn, Nithiwat; Liammongkolkul, Somporn; Wasant, Pornswan; Svasti, Jisnuson; Champattanachai, Voraratt

Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia

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Springer Science and Business Media LLC, 2015

Published in: Biochemical Genetics, 53 (2015) 11-12, Seite 310-318
Vatanavicharn, Nithiwat; Liammongkolkul, Somporn; Sakamoto, Osamu; Kamolsilp, Mahattana; Sathienkijkanchai, Achara; Wasant, Pornswan

Clinical characteristics and mutation analysis of propionic acidemia in Thailand

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Springer Science and Business Media LLC, 2014

Published in: World Journal of Pediatrics, 10 (2014) 1, Seite 64-68
Wasant, Pornswan; Liammongkolkul, Somporn; Kuptanon, Chulaluck; Vatanavicharn, Nithiwat; Sathienkijakanchai, Achara; Shinka, Toshihiro

Organic acid disorders detected by urine organic acid analysis: Twelve cases in Thailand over three-year experience

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Elsevier BV, 2008

Published in: Clinica Chimica Acta, 392 (2008) 1-2, Seite 63-68
Thiboonboon, Kittiphong; Leelahavarong, Pattara; Wattanasirichaigoon, Duangrurdee; Vatanavicharn, Nithiwat; Wasant, Pornswan; Shotelersuk, Vorasuk; Pangkanon, Suthipong; Kuptanon, Chulaluck; Chaisomchit, Sumonta; Teerawattananon, Yot

An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand

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Public Library of Science (PLoS), 2015

Published in: PLOS ONE, 10 (2015) 8, Seite e0134782
Vatanavicharn, Nithiwat; Graham, John M.; Curry, Cynthia J.; Pepkowitz, Samuel; Lachman, Ralph S.; Rimoin, David L.; Wilcox, William R.

Diaphanospondylodysostosis: Six new cases and exclusion of the candidate genes, PAX1 and MEOX1

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Wiley, 2007

Published in: American Journal of Medical Genetics Part A, 143A (2007) 19, Seite 2292-2302
Ngiwsara, Lukana; Vatanavicharn, Nithiwat; Sawangareetrakul, Phannee; Liammongkolkul, Somporn; Ratanarak, Pisanu; Boonyawat, Boonchai; Srisomsap, Chantragan; Champattanachai, Voraratt; Ketudat-Cairns, James; Wasant, Pornswan; Svasti, Jisnuson

Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants

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Springer Science and Business Media LLC, 2021

Published in: Molecular Biology Reports, 48 (2021) 3, Seite 2063-2070
Funari, Vincent A.; Krakow, Deborah; Nevarez, Lisette; Chen, Zugen; Funari, Tara L.; Vatanavicharn, Nithiwat; Wilcox, William R.; Rimoin, David L.; Nelson, Stanley F.; Cohn, Daniel H.

BMPER Mutation in Diaphanospondylodysostosis Identified by Ancestral Autozygosity Mapping and Targeted High-Throughput Sequencing

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Elsevier BV, 2010

Published in: The American Journal of Human Genetics, 87 (2010) 4, Seite 532-537

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