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Kuptanon, Chulaluck
26  Ergebnisse:
Personensuche X
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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/..
 
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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/..
 
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3

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/..
 
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4

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/..
 
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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/..
 
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6

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/..
 
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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/..
 
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8

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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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