Congenital central hypoventilation syndrome mimicking mitochondrial disease

von Rojnueangnit, Kitiwan, Descartes, Maria
Veröffentlicht in Clin Case Rep (2018)

Growth Patterns of Thai Children with Down Syndrome from Birth to 5 Years

von Boontan, Naiyana, Rojnueangnit, Kitiwan
Veröffentlicht in J Pediatr Genet (2021)

AB045. Studying the probabilities of Down syndrome recognition in Thai children using de-identified computer-aided facial features analysis

von Vorravanpreecha, Nattariya, Lertboonnum, Tanayoot, Rodjanadit, Rungrote, Sriplienchan, Pak, Rojnueangnit, Kitiwan
Veröffentlicht in Ann Transl Med (2017)

AB066. The association between GATA1 mutations in Down syndrome newborns and transient abnormal myelopoiesis

von Chukua, Kanokporn, Netsawang, Chayanont, Padungthai, Kittipoom, Khetkham, Thanitchet, Surapolchai, Pacharapan, Rojnueangnit, Kitiwan
Veröffentlicht in Ann Transl Med (2017)

Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype–Phenotype Correlation of POLG c.3286C>T Variant

von Sriwattanapong, Kanokwan, Rojnueangnit, Kitiwan, Theerapanon, Thanakorn, Srichomthong, Chalurmpon, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Veröffentlicht in Int J Neonatal Screen (2021)

Quality of life and comprehensive health supervision for children with Down syndrome in Thailand

von Rojnueangnit, Kitiwan, Khaosamlee, Penrawee, Chunsuwan, Issarapa, Vorravanpreecha, Nattariya, Lertboonnum, Tanayoot, Rodjanadit, Rungrote, Sriplienchan, Pak
Veröffentlicht in J Community Genet (2020)

AB051. Chromosomal microarray analysis in a large cohort of Thai patients with autism spectrum disorder

von Worachotekamjorn, Juthamas, Hansakunachai, Tippawan, Rojnueangnit, Kitiwan, Roongpraiwan, Rawiwan, Ruangdaraganon, Nichara, Wattanasirichaigoon, Duangrurdee, Jinawath, Natini, Limprasert, Pornprot
Veröffentlicht in Ann Transl Med (2017)

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

von Ngiwsara, Lukana, Rojnueangnit, Kitiwan, Wattanasirichaigoon, Duangrurdee, Tim-Aroon, Thipwimol, Sawangareetrakul, Phannee, Champattanachai, Voraratt, Ketudat-Cairns, James R., Svasti, Jisnuson
Veröffentlicht in Exp Ther Med (2017)

Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects

von Rojnueangnit, Kitiwan, Charalsawadi, Chariyawan, Thammachote, Weerin, Pradabmuksiri, Ariya, Tim‐Aroon, Thipwimol, Novelli, Antonio, Loddo, Sara, Briuglia, Silvana, Concetta, Cutrupi M., Wattanasirichaigoon, Duangrurdee, Jinawath, Natini
Veröffentlicht in Mol Genet Genomic Med (2019)

Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis

von Thongpradit, Supranee, Jinawath, Natini, Javed, Asif, Jensen, Laran T., Chunsuwan, Issarapa, Rojnueangnit, Kitiwan, Tim-Aroon, Thipwimol, Lertsukprasert, Krisna, Shiao, Meng-Shin, Sirachainan, Nongnuch, Wattanasirichaigoon, Duangrurdee
Veröffentlicht in Front Genet (2020)

Two Novel GATA1 Mutations in Transient Abnormal Myelopoiesis of Thai Neonates with Down Syndrome

von Chukua, Kanokporn, Netsawang, Chayanont, Padungthai, Kittipoom, Khetkham, Thanitchet, Chokevittaya, Piyaporn, Poonjearansilp, Onapinya, Prachuktum, Sariya, Kositamongkol, Sudatip, Techasatit, Wiliporn, Silapamongkolkul, Phakatip, Satayasai, Wallee, Pusongchai, Tasama, Surapolchai, Pacharapan, Rojnueangnit, Kitiwan
Veröffentlicht in J Pediatr Genet (2019)

Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder

von Hnoonual, Areerat, Thammachote, Weerin, Tim-Aroon, Thipwimol, Rojnueangnit, Kitiwan, Hansakunachai, Tippawan, Sombuntham, Tasanawat, Roongpraiwan, Rawiwan, Worachotekamjorn, Juthamas, Chuthapisith, Jariya, Fucharoen, Suthat, Wattanasirichaigoon, Duangrurdee, Ruangdaraganon, Nichara, Limprasert, Pornprot, Jinawath, Natini
Veröffentlicht in Sci Rep (2017)

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

von Ngiwsara, Lukana, Wattanasirichaigoon, Duangrurdee, Tim-Aroon, Thipwimol, Rojnueangnit, Kitiwan, Noojaroen, Saisuda, Khongkraparn, Arthaporn, Sawangareetrakul, Phannee, Ketudat-Cairns, James R., Charoenwattanasatien, Ratana, Champattanachai, Voraratt, Kuptanon, Chulaluck, Pangkanon, Suthipong, Svasti, Jisnuson
Veröffentlicht in BMC Med Genet (2019)

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla...

von Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary‐Alice, Atkin, Joan, Babovic‐Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben‐Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat‐Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández‐Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano‐Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin‐Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine
Veröffentlicht in Hum Mutat (2015)