Targeted next-generation sequencing expands the spectrum of mitochondrial disorders

Por Hahn, Si Houn
Publicado em 2012

Metabolic evaluation of children with global developmental delay

Por Eun, So-Hee, Hahn, Si Houn
Publicado no Korean J Pediatr (2015)

The genetics of Wilson disease

Por CHANG, IRENE J., HAHN, SI HOUN
Publicado no Handb Clin Neurol (2017)

An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease

Por Bennett, James T., Schwarz, Kathleen B., Swanson, Phillip D., Hahn, Si Houn
Publicado em 2013

Dramatic Response Following Lamotrigine in a Patient with Epileptic Encephalopathy and a de novo CACNA1A Variant

Por Byers, Heather M., Beatty, Christopher W., Hahn, Si Houn, Gospe, Sidney M.
Publicado no Pediatr Neurol (2016)

Next generation sequence analysis for mitochondrial disorders

Por Vasta, Valeria, Ng, Sarah B, Turner, Emily H, Shendure, Jay, Hahn, Si Houn
Publicado em 2009

Tryptic Peptide Screening for Primary Immunodeficiency Disease by LC/MS-MS

Por Kerfoot, Sandra. A, Jung, Sunhee, Golob, Karin, Torgerson, Troy R., Hahn, Si Houn
Publicado em 2012

Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity

Por DaRe, Jeana T, Vasta, Valeria, Penn, John, Tran, Nguyen-Thao B, Hahn, Si Houn
Publicado em 2013

Quantification of ATP7B protein in Dried Blood Spots by Peptide Immuno-SRM as a potential screen for Wilson Disease

Por Jung, Sunhee, Whiteaker, Jeffrey R., Zhao, Lei, Yoo, Han-Wook, Paulovich, Amanda G., Hahn, Si Houn
Publicado no J Proteome Res (2016)

A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly

Por Lee, Jun Hwa, van Kuilenburg, André B. P., Abeling, N. G. G. M., Vasta, Valeria, Hahn, Si Houn
Publicado no JIMD Rep (2015)

Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

Por Tiranti, Valeria, D’Adamo, Pio, Briem, Egill, Ferrari, Gianfrancesco, Mineri, Rossana, Lamantea, Eleonora, Mandel, Hanna, Balestri, Paolo, Garcia-Silva, Maria-Teresa, Vollmer, Brigitte, Rinaldo, Piero, Hahn, Si Houn, Leonard, James, Rahman, Shamima, Dionisi-Vici, Carlo, Garavaglia, Barbara, Gasparini, Paolo, Zeviani, Massimo
Publicado em 2004

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

Por Paciorkowski, Alex R., McDaniel, Sharon S., Jansen, Laura A., Tully, Hannah, Tuttle, Emily, Ghoneim, Dalia H., Tupal, Srinivasan, Gunter, Sonya A., Vasta, Valeria, Zhang, Qing, Tran, Thao, Liu, Yi B., Ozelius, Laurie J., Brashear, Allison, Sweadner, Kathleen J., Dobyns, William B., Hahn, Si Houn
Publicado no Epilepsia (2015)