Resultados da busca - Wong, Lee-Jun

Challenges of Bringing Next Generation Sequencing Technologies to Clinical Molecular Diagnostic Laboratories por Wong, Lee-Jun C.

Obter o texto integral Obter o texto integral Obter o texto integral

Simultaneous Detection and Quantification of Mitochondrial DNA Deletion(s), Depletion, and Over-Replication in Patients with Mitochondrial Disease por Bai, Ren-Kui, Wong, Lee-Jun C.

Obter o texto integral Obter o texto integral

Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility por Kazamel, Mohamed, Wong, Lee-Jun, Milone, Margherita

Obter o texto integral Obter o texto integral Obter o texto integral

Extra-muscular manifestations of TK2 deficiency por El-Hattab, Ayman W., Wang, Julia, Wong, Lee-Jun

Obter o texto integral Obter o texto integral Obter o texto integral

Multiplex Ligation-Dependent Probe Amplification Identification of Whole Exon and Single Nucleotide Deletions in the CFTR Gene of Hispanic Individuals with Cystic Fibrosis por Schrijver, Iris, Rappahahn, Krista, Pique, Lynn, Kharrazi, Martin, Wong, Lee-Jun

Obter o texto integral Obter o texto integral Obter o texto integral

Mitochondrial dysfunction in human breast cancer cells and their transmitochondrial cybrids por Ma, Yewei, Bai, Ren-Kui, Trieu, Robert, Wong, Lee-Jun C.

Obter o texto integral Obter o texto integral Obter o texto integral

Reduced Mitochondrial DNA Content and Heterozygous Nuclear Gene Mutations in Patients with Acute Liver Failure por Helbling, Daniel, Buchaklian, Adam, Wang, Jing, Wong, Lee-Jun, Dimmock, David

Obter o texto integral Obter o texto integral Obter o texto integral

Mitochondrial DNA variant interactions modify breast cancer risk por Covarrubias, Daniel, Bai, Ren-Kui, Wong, Lee-Jun C., Leal, Suzanne M.

Obter o texto integral Obter o texto integral Obter o texto integral

Estimating Allele Frequency from Next-Generation Sequencing of Pooled Mitochondrial DNA Samples por Wang, Tao, Pradhan, Kith, Ye, Kenny, Wong, Lee-Jun, Rohan, Thomas E.

Obter o texto integral Obter o texto integral Obter o texto integral

Predominant Cerebellar Volume Loss as a Neuroradiologic Feature of Pediatric Respiratory Chain Defects por Scaglia, Fernando, Wong, Lee-Jun C., Vladutiu, Georgirene D., Hunter, Jill V.

Obter o texto integral Obter o texto integral

Do Alterations in Mitochondrial DNA Play a Role in Breast Carcinogenesis? por Rohan, Thomas E., Wong, Lee-Jun, Wang, Tao, Haines, Jonathan, Kabat, Geoffrey C.

Obter o texto integral Obter o texto integral Obter o texto integral

A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies por Landsverk, Megan L., Zhang, Victor Wei, Wong, Lee-Jun C., Andersson, Hans C.

Obter o texto integral Obter o texto integral Obter o texto integral

β2-Adrenergic Receptors Mediate Cardioprotection through Crosstalk with Mitochondrial Cell Death Pathways por Fajardo, Giovanni, Zhao, Mingming, Berry, Gerald, Wong, Lee-Jun, Mochly-Rosen, Daria, Bernstein, Daniel

Obter o texto integral Obter o texto integral Obter o texto integral

Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing por Feng, Yanming, Chen, David, Wang, Guo-Li, Zhang, Victor Wei, Wong, Lee-Jun C.

Obter o texto integral Obter o texto integral Obter o texto integral

Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childh... por Gropman, Andrea, Uittenbogaard, Martine, Brantner, Christine A., Wang, Yue, Wong, Lee-Jun, Chiaramello, Anne

Obter o texto integral Obter o texto integral Obter o texto integral

Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis por Hiniker, Annie, Wong, Lee-Jun, Berven, Sigurd, Truong, Cavatina K, Adesina, Adekunle M, Margeta, Marta

Obter o texto integral Obter o texto integral Obter o texto integral

Abnormalities in Glycogen Metabolism in a Patient with Alpers’ Syndrome Presenting with Hypoglycemia por Simon, Mariella, Chang, Richard C., Bali, Deeksha S., Wong, Lee-Jun, Peng, Ying, Abdenur, Jose E.

Obter o texto integral Obter o texto integral Obter o texto integral

The m.11778 A>G Variant Associated with the Coexistence of Leber’s Hereditary Optic Neuropathy and Multiple Sclerosis-like Illness Dysregulates the Metabolic Interplay between Mito... por Uittenbogaard, Martine, Brantner, Christine A, ZiShui, Fang, Wong, Lee-Jun, Gropman, Andrea, Chiaramello, Anne

Obter o texto integral Obter o texto integral Obter o texto integral

AIB1 gene amplification and the instability of polyQ encoding sequence in breast cancer cell lines por Wong, Lee-Jun C, Dai, Pu, Lu, Jyh-Feng, Lou, Mary Ann, Clarke, Robert, Nazarov, Viktor

Obter o texto integral Obter o texto integral Obter o texto integral

Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B por Shaibani, Aziz, Shchelochkov, Oleg A., Zhang, Shulin, Katsonis, Panagiotis, Lichtarge, Olivier, Wong, Lee-Jun, Shinawi, Marwan

Obter o texto integral Obter o texto integral Obter o texto integral