A new case of maternal lupus-associated chondrodysplasia punctata with extensive spinal anomalies

بواسطة Thipwimol Tim-aroon, Suphaneewan Jaovisidha, Duangrurdee Wattanasirichaigoon
منشور في 2018

Newborn with asymmetric crying face

بواسطة Kiengkwan Amphaiphan, Thipwimol Tim-Aroon, Chayatat Ruangkit
منشور في 2019

Wolman disease with a low cholesterol level: An unusual laboratory finding

بواسطة Phawin Kor-Anantakul, Thipwimol Tim-Aroon, Somchit Jaruratanasirikul
منشور في 2022

Correction to: Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience (Journ...

بواسطة Sukrit Suwannachat, Duangrurdee Wattanasirichaigoon, Jiraporn Arunakul, Vilawan Chirdkiatgumchai, Thipwimol Tim-Aroon
منشور في 2020

Sleep Disorder: An Overlooked Manifestation of Glucose Transporter Type-1 Deficiency Syndrome

بواسطة Kingthong Anurat, Chaiyos Khongkhatithum, Thipwimol Tim-Aroon, Chanin Limwongse, Lunliya Thampratankul
منشور في 2022

Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience

بواسطة Sukrit Suwannachat, Duangrurdee Wattanasirichaigoon, Jiraporn Arunakul, Vilawan Chirdkiatgumchai, Thipwimol Tim-Aroon
منشور في 2020

Whole Exome Sequencing Revealing RYR1 Pathogenic Variant in an Exceptional Family with Malignant Hyperthermia Susceptibility

بواسطة Arthaporn Khongkraparn, Nitcha Khunin, Thipwimol Tim-Aroon, Tanit Virankabutra, Duangrurdee Wattanasirichaigoon
منشور في 2022

Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co-occurrence from Thailand

بواسطة Tim Phetthong, Thipwimol Tim-Aroon, Arthaporn Khongkrapan, Preamrudee Poomthavorn, Duangrurdee Wattanasirichaigoon
منشور في 2020

Etiology and outcome of acute recurrent pancreatitis and chronic pancreatitis

بواسطة Songpon Getsuwan, Pornthep Tanpowpong, Chatmanee Lertudomphonwanit, Thitiporn Junhasavasdikul, Thipwimol Tim-Aroon, Suporn Treepongkaruna
منشور في 2022

A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficie...

بواسطة Pongpak Pongphitcha, Nongnuch Sirachainan, Arthaporn Khongkraparn, Thipwimol Tim-Aroon, Duantida Songdej, Duangrurdee Wattanasirichaigoon
منشور في 2022

Growth charts for Thai children with Prader-Willi syndrome aged 0-18 years

بواسطة Nantiya Mongkollarp, Thipwimol Tim-Aroon, Chusak Okascharoen, Khunton Wichajarn, Jeeraparn Phosuwattanakul, Nalinee Chongviriyaphan, Duangrurdee Wattanasirichaigoon
منشور في 2020

Successful parathyroidectomy with intra-operative parathyroid hormone monitoring in a neonate with severe primary hyperparathyroidism caused by homozygous mutation in CASR gene

بواسطة Kinnaree Sorapipatcharoen, Pat Mahachoklertwattana, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Sathit Karanes, Sani Molagool, Preamrudee Poomthavorn
منشور في 2020

Clinical utility of low branched-chain amino acid modular diets in patients with isovaleric aciduria and maple syrup urine disease

بواسطة Suthida Chatvuttinun, Duangrurdee Wattanasirichaigoon, Visith Chavasit, Oraporn Dumrongwongsiri, Thipwimol Tim-Aroon, Umaporn Suthutvoravut, Nalinee Chongviriyaphan
منشور في 2022

1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome

بواسطة Thipwimol Tim-Aroon, Natini Jinawath, Weerin Thammachote, Praweena Sinpitak, Anchalee Limrungsikul, Chaiyos Khongkhatithum, Duangrurdee Wattanasirichaigoon
منشور في 2018

Comparison of 24-hour recall and 3-day food records during the complementary feeding period in Thai infants and evaluation of plasma amino acids as markers of protein intake

بواسطة Kulnipa Kittisakmontri, Julie Lanigan, Areeporn Sangcakul, Thipwimol Tim-Aroon, Pornchai Meemaew, Kanticha Wangaueattachon, Mary Fewtrell
منشور في 2022

Association of Mitochondrial DNA Polymorphisms With Pediatric-Onset Cyclic Vomiting Syndrome

بواسطة Kirana Veenin, Duangrurdee Wattanasirichaigoon, Bhoom Suktitipat, Saisuda Noojarern, Patcharee Lertrit, Thipwimol Tim-Aroon, Supannee Kaewsutthi, Suporn Treepongkaruna
منشور في 2022

Two infants with abetalipoproteinemia: Classic versus atypical presentation

بواسطة Noparat Prachasitthisak, Pornthep Tanpowpong, Thipwimol Tim-Aroon, Suporn Treepongkaruna, Nalinee Chongviriyaphan, Niyada Vithayasai, Orawan Iamopas, Duangrurdee Wattanasirichaigoon
منشور في 2020

Clinicoradiological and genetic analyses of three Thai families with hereditary hemorrhagic telangiectasia in Ramathibodi hospital

بواسطة Sirintara Pongpech Singhara Na Ayudhaya, Thipwimol Tim-Aroon, Chaiyos Khongkhatithum, Duangrurdee Wattanasirichaigoon, Ekachat Chanthanaphak, Chai Kobkitsuksakul, Kittiphop Somboonnithiphol
منشور في 2019

Molecular analysis of the novel IDS allele in a thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay

بواسطة Lukana Ngiwsara, Kitiwan Rojnueangnit, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Phannee Sawangareetrakul, Voraratt Champattanachai, James R. Ketudat-Cairns, Jisnuson Svasti
منشور في 2018

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance

بواسطة Supranee Thongpradit, Natini Jinawath, Asif Javed, Saisuda Noojarern, Arthaporn Khongkraparn, Thipwimol Tim-Aroon, Krisna Lertsukprasert, Bhoom Suktitipat, Laran T. Jensen, Duangrurdee Wattanasirichaigoon
منشور في 2020