Identification of Alpha Thalassemia, RNF 213 p.R4810K and PROC p.R189W among Children with Moyamoya Disease/Syndrome by Lunliya Thampratankul, Yusuke Okuno, Patcharee Komvilaisak, Duangrurdee Wattanasirichaigoon, Nongnuch Sirachainan

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Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis by Rapeepat Thewamit, Chaiyos Khongkhatithum, Lunliya Thampratankul, Wuttichart Kamolvisit, Arthaporn Khongkrapan, Duangrurdee Wattanasirichaigoon

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Successful pregnancy outcome in Herlyn‐Werner‐Wunderlich syndrome with pyocolpos: A case report and literature review by Chayada Tangshewinsirikul, Wirada Dulyaphat, Sanpon Diawtipsukon, Yada Tingthanatikul, Chonthicha Satirapod, Duangrurdee Wattanasirichaigoon

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A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficie... by Pongpak Pongphitcha, Nongnuch Sirachainan, Arthaporn Khongkraparn, Thipwimol Tim-Aroon, Duantida Songdej, Duangrurdee Wattanasirichaigoon

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Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand by Kalyarat Wilaiwongsathien, Duangrurdee Wattanasirichaigoon, Sasivimol Rattanasiri, Chanatpon Aonnuam, Chayada Tangshewinsirikul, Thipwimol Tim-Aroon

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Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia by Natsumon Udomkittivorakul, Duangrurdee Wattanasirichaigoon, Wiparat Manuyakorn, Pongpak Pongphitcha, Arthaporn Khongkraparn, Padcha Tunlayadechanont, Nongnuch Sirachainan

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Association of Mitochondrial DNA Polymorphisms With Pediatric-Onset Cyclic Vomiting Syndrome by Kirana Veenin, Duangrurdee Wattanasirichaigoon, Bhoom Suktitipat, Saisuda Noojarern, Patcharee Lertrit, Thipwimol Tim-Aroon, Supannee Kaewsutthi, Suporn Treepongkaruna

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Effects of an animated educational video on knowledge of cell-free DNA screening among Thai pregnant women: a randomized control trial by Nutta Nintao, Jittima Manonai, Rujira Wattanayingcharoenchai, Sommart Bumrungphuet, Wirada Hansahiranwadee, Wirada Dulyaphat, Werapath Somchit, Duangrurdee Wattanasirichaigoon, Maneerat Prakobpanich, Chayada Tangshewinsirikul

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A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene by Tanapat Pornsukjantra, Kitsada Kangboonruang, Pirut Tong-Ngam, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Alisa Tubsuwan, Kanit Bhukhai, Nithi Asavapanumas

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Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease by Kitsada Kangboonruang, Tanapat Pornsukjantra, Pirut Tong-Ngam, Tanida Chokpanuwat, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Nithi Asavapanumas, Kanit Bhukhai, Alisa Tubsuwan

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Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant by Panisara Lakkhana, Thipwimol Tim-Aroon, Arthaporn Khongkraparn, Saisuda Noojarern, Parith Wongkittichote, Khunton Wichajarn, Chulaluck Kuptanon, Boonchai Boonyawat, Kanya Suphapeetiporn, Karn Wejaphikul, GoHun Seo, Duangrurdee Wattanasirichaigoon

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Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and... by Pharuhad Pongmee, Sanchawan Wittayakornrerk, Ramrada Lekwuttikarn, Sasikarn Pakdeeto, Piangor Watcharakuldilok, Chatchay Prempunpong, Thipwimol Tim-Aroon, Chawintee Puttanapitak, Piyawan Wattanasoontornsakul, Thitiporn Junhasavasdikul, Parith Wongkittichote, Parith Wongkittichote, Saisuda Noojarern, Duangrurdee Wattanasirichaigoon

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Pharmacogenomic landscape of the Thai population from genome sequencing of 949 individuals by Jittima Piriyapongsa, Supatat Chumnumwat, Pavita Kaewprommal, Kwankom Triparn, Supharat Suvichapanich, Wanvisa Udomsinprasert, Jiraphun Jittikoon, Philip J. Shaw, Vorthunju Nakhonsri, Chumpol Ngamphiw, Pongsakorn Wangkumhang, Manop Pithukpakorn, Ekkapong Roothumnong, Supakit Wiboonthanasarn, Chulaluck Kuptanon, Natini Jinawath, Thantrira Porntaveetus, Prapat Suriyaphol, Vip Viprakasit, Prapaporn Pisitkun, Piranit Kantaputra, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Thanyachai Sura, Kanya Suphapeetiporn, Orapan Sripichai, Apichai Khongphatthanayothin, Suthat Fucharoen, Nuttapong Ngamphaiboon, Vorasuk Shotelersuk, Surakameth Mahasirimongkol, Sissades Tongsima

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