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Srichomthong, Chalurmpon
68  results:
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1

Unraveling the molecular diagnosis of metaphyseal enchondro..:

Rattanapornsompong, Khanti ; Chetruengchai, Wanna ; Srichomthong, Chalurmpon...
American Journal of Medical Genetics Part A.  194 (2024)  6 - p. , 2024
Link: https://doi.org/10.1002/..
 
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2

Comprehensive genome assembly reveals genetic diversity and..:

Buthasane, Wannapol ; Shotelersuk, Vorasuk ; Chetruengchai, Wanna...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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3

A novel BAG5 variant impairs the ER stress response pathway..:

Wongong, Rutairat ; Kijtawornrat, Anusak ; Srichomthong, Chalurmpon...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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4

De novo genome assembly and transcriptome sequencing in foo..:

Chetruengchai, Wanna ; Jirapatrasilp, Parin ; Srichomthong, Chalurmpon...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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5

HLA-B*46:01:01:01 and HLA-DRB1*09:01:02:01 are associated w..:

Suttichet, Thitima Benjachat ; Chamnanphon, Monpat ; Pongpanich, Monnat...
Scientific Reports.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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6

Long-read Nanopore sequencing identified D4Z4 contractions ..:

Yeetong, Patra ; Kulsirichawaroj, Pimchanok ; Kumutpongpanich, Theerawat...
Neuromuscular Disorders.  33 (2023)  7 - p. 551-556 , 2023
Link: https://doi.org/10.1016/..
 
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7

Pathogenic variant detection rate by whole exome sequencing..:

Isaranuwatchai, Suramath ; Chanakul, Ankanee ; Ittiwut, Chupong...
Scientific Reports.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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8

Comparative genomics and genome-wide SNPs of endangered Eld..:

Pumpitakkul, Vichayanee ; Chetruengchai, Wanna ; Srichomthong, Chalurmpon...
Scientific Reports.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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9

Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adul..:

Yeetong, Patra ; Dembélé, Mohamed E. ; Pongpanich, Monnat...
Movement Disorders.  39 (2023)  1 - p. 164-172 , 2023
Link: https://doi.org/10.1002/..
 
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10

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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11

Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Pat..:

Tantirukdham, Nithiphut ; Sahakitrungruang, Taninee ; Chaisiwamongkol, Ratikorn...
The Journal of Clinical Endocrinology & Metabolism.  107 (2022)  7 - p. 1939-1947 , 2022
Link: https://doi.org/10.1210/..
 
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12

A LILRB1 variant with a decreased ability to phosphorylate ..:

Sinthuwiwat, Thivaratana ; Buranapraditkun, Supranee ; Kamolvisit, Wuttichart...
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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13

Genome of Varanus salvator macromaculatus (Asian Water Moni..:

Chetruengchai, Wanna ; Singchat, Worapong ; Srichomthong, Chalurmpon...
Frontiers in Ecology and Evolution.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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14

Compound Heterozygosity for a Novel Frameshift Variant Caus..:

Sriwattanapong, Kanokwan ; Rojnueangnit, Kitiwan ; Theerapanon, Thanakorn...
International Journal of Neonatal Screening.  7 (2021)  1 - p. 9 , 2021
Link: https://doi.org/10.3390/..
 
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15

The Thai reference exome (T‐REx) variant database:

Shotelersuk, Vorasuk ; Wichadakul, Duangdao ; Ngamphiw, Chumpol...
Clinical Genetics.  100 (2021)  6 - p. 703-712 , 2021
Link: https://doi.org/10.1111/..
 
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