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Ittiwut, Rungnapa
31  Ergebnisse:
Personensuche X
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1

A germline STAT6 gain-of-function variant is associated wit..:

Suratannon, Narissara ; Ittiwut, Chupong ; Dik, Willem A....
Journal of Allergy and Clinical Immunology.  151 (2023)  2 - p. 565-571.e9 , 2023
Link: https://doi.org/10.1016/..
 
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2

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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3

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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4

Novel CD55 Mutation Associated With Severe Small Bowel Ulce..:

Chongsrisawat, Voranush ; Suratannon, Narissara ; Chatchatee, Pantipa...
Inflammatory Bowel Diseases.  28 (2022)  9 - p. 1458-1461 , 2022
Link: https://doi.org/10.1093/..
 
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5

TIGIT Monoallelic Nonsense Variant in Patient with Severe C..:

Sodsai, Pimpayao ; Ittiwut, Chupong ; Ruenjaiman, Vichaya...
Emerging Infectious Diseases.  28 (2022)  11 - p. 2350-2352 , 2022
Link: https://doi.org/10.3201/..
 
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6

Exome sequencing as first-tier genetic testing in infantile..:

Boonsimma, Ponghatai ; Ittiwut, Chupong ; Kamolvisit, Wuttichart...
European Journal of Human Genetics.  31 (2022)  2 - p. 179-187 , 2022
Link: https://doi.org/10.1038/..
 
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7

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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8

Phenotypic heterogeneity and genotypic spectrum of inborn e..:

Tengsujaritkul, Maliwan ; Suratannon, Narissara ; Ittiwut, Chupong...
Pediatric Allergy and Immunology.  33 (2021)  1 - p. , 2021
Link: https://doi.org/10.1111/..
 
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9

Novel de novo mutation substantiates ATP6V0C as a gene caus..:

Ittiwut, Chupong ; Poonmaksatit, Sathida ; Boonsimma, Ponghatai...
Brain and Development.  43 (2021)  3 - p. 490-494 , 2021
Link: https://doi.org/10.1016/..
 
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10

A novel deletion in the fibrinogen beta chain (FGB) gene ca..:

Rakmanotham, Arunothai ; Ittiwut, Rungnapa ; Komwilaisak, Patcharee...
Thrombosis Research.  186 (2020)  - p. 26-29 , 2020
Link: https://doi.org/10.1016/..
 
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11

Whole exome sequencing for diagnosis of hereditary thromboc..:

Mekchay, Ponthip ; Ittiwut, Chupong ; Ittiwut, Rungnapa...
Medicine.  99 (2020)  47 - p. e23275 , 2020
Link: https://doi.org/10.1097/..
 
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12

Trinucleotide repeat expansion in the transcription factor ..:

Okumura, Naoki ; Puangsricharern, Vilavun ; Jindasak, Raina...
Eye.  34 (2019)  5 - p. 880-885 , 2019
Link: https://doi.org/10.1038/..
 
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13

Mutations in Kinesin family member 6 reveal specific role i..:

Konjikusic, Mia J. ; Yeetong, Patra ; Boswell, Curtis W....
PLOS Genetics.  14 (2018)  11 - p. e1007817 , 2018
Link: https://doi.org/10.1371/..
 
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14

Identification and Functional Analysis of Six DAX1 Mutation..:

Suthiworachai, Chanisara ; Tammachote, Rachaneekorn ; Srichomthong, Chalurmpon...
Journal of the Endocrine Society.  3 (2018)  1 - p. 171-180 , 2018
Link: https://doi.org/10.1210/..
 
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15

The phenotypic and mutational spectrum of Thai female patie..:

Chongsrisawat, Voranush ; Damrongphol, Ponghatai ; Ittiwut, Chupong...
Gene.  679 (2018)  - p. 377-381 , 2018
Link: https://doi.org/10.1016/..
 
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