E-LIB Suche - Ergebnisse für: Wasant, Pornswan

1

Homozygosity for a Rare Plec Variant Suggests a Contributor..:

Kantaputra, Piranit ; Daroontum, Teerada ; Kitiyamas, Kantapong...
International Journal of Molecular Sciences. 25 (2024) 12 - p. 6358 , 2024

Link: https://doi.org/10.3390/..

2

Phenotypic and molecular features of Thai patients with pri..:

Liammongkolkul, Somporn ; Boonyawat, Boonchai ; Vijarnsorn, Chodchanok...
Pediatrics International. 65 (2023) 1 - p. , 2023

Link: https://doi.org/10.1111/..

3

Molecular characterization of Thai patients with phenylalan..:

Ngiwsara, Lukana ; Vatanavicharn, Nithiwat ; Sawangareetrakul, Phannee...
Molecular Biology Reports. 48 (2021) 3 - p. 2063-2070 , 2021

Link: https://doi.org/10.1007/..

4

Asia Pacific Society of Human Genetics (APSHG) from concept..:

Wasant, Pornswan ; Padilla, Carmencita ; Lam, Stephen..
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181 (2019) 2 - p. 155-165 , 2019

Link: https://doi.org/10.1002/..

5

Carnitine–acylcarnitine translocase deficiency: Two neonata..:

Vatanavicharn, Nithiwat ; Yamada, Kenji ; Aoyama, Yuka...
Brain and Development. 37 (2015) 7 - p. 698-703 , 2015

Link: https://doi.org/10.1016/..

6

An Economic Evaluation of Neonatal Screening for Inborn Err..:

Thiboonboon, Kittiphong ; Leelahavarong, Pattara ; Wattanasirichaigoon, Duangrurdee...
PLOS ONE. 10 (2015) 8 - p. e0134782 , 2015

Link: https://doi.org/10.1371/..

7

Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Le..:

Sawangareetrakul, Phannee ; Ketudat Cairns, James R. ; Vatanavicharn, Nithiwat...
Biochemical Genetics. 53 (2015) 11-12 - p. 310-318 , 2015

Link: https://doi.org/10.1007/..

8

Clinical characteristics and mutation analysis of propionic..:

Vatanavicharn, Nithiwat ; Liammongkolkul, Somporn ; Sakamoto, Osamu...
World Journal of Pediatrics. 10 (2014) 1 - p. 64-68 , 2014

Link: https://doi.org/10.1007/..

9

Genetic Counseling/Consultation in South‐East Asia: A Repor..:

Zayts, Olga ; Sarangi, Srikant ; Thong, Meow‐Keong...
Journal of Genetic Counseling. 22 (2013) 6 - p. 917-924 , 2013

Link: https://doi.org/10.1007/..

10

Clinical and molecular findings in Thai patients with isola..:

Vatanavicharn, Nithiwat ; Champattanachai, Voraratt ; Liammongkolkul, Somporn...
Molecular Genetics and Metabolism. 106 (2012) 4 - p. 424-429 , 2012

Link: https://doi.org/10.1016/..

11

Current diagnosis and management of mucopolysaccharidosis V..:

Hwu, Wuh-Liang ; Okuyama, Torayuki ; But, Wai Man...
Molecular Genetics and Metabolism. 107 (2012) 1-2 - p. 136-144 , 2012

Link: https://doi.org/10.1016/..

12

Amino acid disorders detected by quantitative amino acid HP..:

Vatanavicharn, Nithiwat ; Ratanarak, Pisanu ; Liammongkolkul, Somporn..
Clinica Chimica Acta. 413 (2012) 13-14 - p. 1141-1144 , 2012

Link: https://doi.org/10.1016/..

13

Phenotypic and mutation spectrums of Thai patients with iso..:

Vatanavicharn, Nithiwat ; Liammongkolkul, Somporn ; Sakamoto, Osamu..
Pediatrics International. 53 (2011) 6 - p. 990-994 , 2011

Link: https://doi.org/10.1111/..

14

Glutaric Aciduria Type 2, Late Onset Type in Thai Siblings ..:

Wasant, Pornswan ; Kuptanon, Chulaluck ; Vattanavicharn, Nithiwat...
Pediatric Neurology. 43 (2010) 4 - p. 279-282 , 2010

Link: https://doi.org/10.1016/..

15

Organic acid disorders detected by urine organic acid analy..:

Wasant, Pornswan ; Liammongkolkul, Somporn ; Kuptanon, Chulaluck...
Clinica Chimica Acta. 392 (2008) 1-2 - p. 63-68 , 2008

Link: https://doi.org/10.1016/..