E-LIB Suche - Ergebnisse für: Chupong Ittiwut

1

Nine patients with KCNQ2-related neonatal seizures and func..:

Chokvithaya, Suphalak ; Caengprasath, Natarin ; Buasong, Aayalida...
Scientific Reports. 13 (2023) 1 - p. , 2023

2

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/..

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/..

4

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/..

5

Utilisation of exome sequencing for muscular disorders in T..:

Summa, Sarinya ; Ittiwut, Chupong ; Kulsirichawaroj, Pimchanok...
Scientific Reports. 13 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

6

Severe coarctation of the aorta, developmental delay, and m..:

Caengprasath, Natarin ; Buasong, Aayalida ; Ittiwut, Chupong...
European Journal of Medical Genetics. 65 (2022) 11 - p. 104601 , 2022

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

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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/..

13

Severe neonatal haemolytic anaemia caused by compound heter..:

Tangsricharoen, Tanu ; Natesirinilkul, Rungrote ; Phusua, Arunee...
British Journal of Haematology. 194 (2021) 3 - p. 626-634 , 2021

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

14

Nagashima-Type Palmoplantar Keratosis with Compound Heteroz..:

Songsantiphap, Chankiat ; Suwanwatana, Jirat ; Ittiwut, Chupong...
Case Reports in Dermatology. 12 (2020) 3 - p. 241-248 , 2020

Link: https://doi.org/10.1159/..

15

Expanding phenotypic and mutational spectra of mitochondria..:

Rojnueangnit, Kitiwan ; Maneechai, Parisa ; Thaweekul, Patcharapa...
European Journal of Medical Genetics. 63 (2020) 12 - p. 104086 , 2020

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