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Kuptanon, Chulaluck
26
results:
Search for persons
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Online (26)
Mediatypes
Articles (Online) (16)
OpenAccess-fulltext (10)
Sorted by: Relevance
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1
Genetic, metabolic and clinical delineation of an MRPS23-as..:
Ittiwut, Chupong
;
Ittiwut, Rungnapa
;
Kuptanon, Chulaluck
...
Scientific Reports. 13 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
2
Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal ..:
Kuptanon, Chulaluck
;
Thamkunanon, Verasak
;
Srichomthong, Chalurmpon
...
Clinical Genetics. 102 (2022) 3 - p. 242-243 , 2022
Link:
https://doi.org/10.1111/..
?
3
Gaucher disease: clinical phenotypes and refining GBA mutat..:
Phetthong, Tim
;
Tim-Aroon, Thipwimol
;
Khongkraparn, Arthaporn
...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
4
Rapid exome sequencing as the first‐tier investigation for ..:
Kamolvisit, Wuttichart
;
Phowthongkum, Prasit
;
Boonsimma, Ponghatai
...
Clinical Genetics. 100 (2021) 1 - p. 100-105 , 2021
Link:
https://doi.org/10.1111/..
?
5
A family with homozygous and heterozygous p.Gly337Ser mutat..:
Udomchaiprasertkul, Wandee
;
Kuptanon, Chulaluck
;
Porntaveetus, Thantrira
.
European Journal of Medical Genetics. 63 (2020) 6 - p. 103896 , 2020
Link:
https://doi.org/10.1016/..
?
6
Oral manifestations in patients and dogs with mucopolysacch..:
Kantaputra, Piranit N.
;
Smith, Lachlan J.
;
Casal, Margret L.
...
American Journal of Medical Genetics Part A. 179 (2019) 3 - p. 486-493 , 2019
Link:
https://doi.org/10.1002/..
?
7
Whole exome sequencing revealed mutations in FBXL4, UNC80, ..:
Kuptanon, Chulaluck
;
Srichomthong, Chalurmpon
;
Ittiwut, Chupong
...
Gene. 696 (2019) - p. 21-27 , 2019
Link:
https://doi.org/10.1016/..
?
8
Clinical course, mutations and its functional characteristi..:
Ngiwsara, Lukana
;
Wattanasirichaigoon, Duangrurdee
;
Tim-Aroon, Thipwimol
...
BMC Medical Genetics. 20 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1186/..
?
9
The most 5′ truncating homozygous mutation of WNT1 in sibli..:
Kuptanon, Chulaluck
;
Srichomthong, Chalurmpon
;
Sangsin, Apiruk
...
BMC Medical Genetics. 19 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1186/..
?
10
p.X654R IDUA variant among Thai individuals with intermedia..:
Ngiwsara, Lukana
;
Ketudat‐Cairns, James R.
;
Sawangareetrakul, Phannee
...
Annals of Human Genetics. 82 (2017) 3 - p. 150-157 , 2017
Link:
https://doi.org/10.1111/..
?
11
Two novel compound heterozygous BMP1 mutations in a patient..:
Sangsin, Apiruk
;
Kuptanon, Chulaluck
;
Srichomthong, Chalurmpon
...
BMC Medical Genetics. 18 (2017) 1 - p. , 2017
Link:
https://doi.org/10.1186/..
?
12
Mutations in KIAA0753 cause Joubert syndrome associated wit..:
NISC Comparative Sequencing Program
;
Stephen, Joshi
;
Vilboux, Thierry
...
Human Genetics. 136 (2017) 4 - p. 399-408 , 2017
Link:
https://doi.org/10.1007/..
?
13
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/..
?
14
Mutation spectrum of and founder effects affecting the PTS ..:
Chiu, Yen-Hui
;
Chang, Ying-Chen
;
Chang, Yu-Hsin
...
Journal of Human Genetics. 57 (2012) 2 - p. 145-152 , 2012
Link:
https://doi.org/10.1038/..
?
15
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/..
1-15