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Kuptanon, Chulaluck
10  Ergebnisse:
OpenAccess-Volltexte X
Personensuche X
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1

Genetic, metabolic and clinical delineation of an MRPS23-as..:

Ittiwut, Chupong ; Ittiwut, Rungnapa ; Kuptanon, Chulaluck...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10716371/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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2

Gaucher disease: clinical phenotypes and refining GBA mutat..:

Phetthong, Tim ; Tim-Aroon, Thipwimol ; Khongkraparn, Arthaporn...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686639/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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3

Oral Manifestations in patients and dogs with mucopolysacch..:

Kantaputra, Piranit Nik ; Smith, Lachlan J ; Casal, Margret L...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374205/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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4

Mutations in KIAA0753 cause Joubert syndrome associated wit..:

Stephen, Joshi ; Vilboux, Thierry ; Mian, Luhe...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395200/.  , 2017
Link: http://www.ncbi.nlm.nih...
 
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5

Genetic, metabolic and clinical delineation of an MRPS23-as..:

Chupong Ittiwut ; Rungnapa Ittiwut ; Chulaluck Kuptanon...
https://doi.org/10.1038/s41598-023-49161-7.  , 2023
Link: https://doi.org/10.1038/..
 
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6

Gaucher disease: clinical phenotypes and refining GBA mutat..:

Tim Phetthong ; Thipwimol Tim-Aroon ; Arthaporn Khongkraparn...
https://doi.org/10.1186/s13023-021-02151-2.  , 2021
Link: https://doi.org/10.1186/..
 
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7

Clinical course, mutations and its functional characteristi..:

Lukana Ngiwsara ; Duangrurdee Wattanasirichaigoon ; Thipwimol Tim-Aroon...
http://link.springer.com/article/10.1186/s12881-019-0878-8.  , 2019
Link: https://doi.org/10.1186/..
 
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8

The most 5′ truncating homozygous mutation of WNT1 in sibli..:

Chulaluck Kuptanon ; Chalurmpon Srichomthong ; Apiruk Sangsin...
http://link.springer.com/article/10.1186/s12881-018-0639-0.  , 2018
Link: https://doi.org/10.1186/..
 
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9

An Economic Evaluation of Neonatal Screening for Inborn Err..:

Kittiphong Thiboonboon ; Pattara Leelahavarong ; Duangrurdee Wattanasirichaigoon...
http://europepmc.org/articles/PMC4530882?pdf=render.  , 2015
Link: https://doi.org/10.1371/..
 
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10

Additional file 1 of Gaucher disease: clinical phenotypes a..:

Tim Phetthong (11861754) ; Thipwimol Tim-Aroon (9747119) ; Arthaporn Khongkraparn (11861757)...
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Gaucher_disease_clinical_phenotypes_and_refining_GBA_mutational_spectrum_in_Thai_patients/17305686.  , 2021
Link: https://doi.org/10.6084/..
 
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