Tsai CR - Search Results

1

Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation.

Chi CS, Tsai CR, Lee HF. Chi CS, et al. Among authors: tsai cr. Hum Genet. 2023 Aug;142(8):1029-1041. doi: 10.1007/s00439-023-02533-5. Epub 2023 Feb 27. Hum Genet. 2023. PMID: 36847845

2

Mitochondrial DNA 8993 T > C mutation presenting as juvenile Leigh syndrome with respiratory failure.

Mak SC, Chi CS, Tsai CR. Mak SC, et al. Among authors: tsai cr. J Child Neurol. 1998 Jul;13(7):349-51. doi: 10.1177/088307389801300709. J Child Neurol. 1998. PMID: 9701486 No abstract available.

3

Childhood MELAS syndrome presenting with seizure and cortical blindness: a case report.

Liu AM, Mak SC, Tsai CR, Chi CS. Liu AM, et al. Among authors: tsai cr. Zhonghua Yi Xue Za Zhi (Taipei). 1998 Dec;61(12):730-5. Zhonghua Yi Xue Za Zhi (Taipei). 1998. PMID: 9884447

4

New mutations of the HPRT gene in Lesch-Nyhan syndrome.

Mak BS, Chi CS, Tsai CR, Lee WJ, Lin HY. Mak BS, et al. Among authors: tsai cr. Pediatr Neurol. 2000 Oct;23(4):332-5. doi: 10.1016/s0887-8994(00)00199-5. Pediatr Neurol. 2000. PMID: 11068166

5

Left ventricular dysfunction in children with fulminant enterovirus 71 infection: an evaluation of the clinical course.

Huang FL, Jan SL, Chen PY, Chi CS, Wang TM, Fu YC, Tsai CR, Chang Y. Huang FL, et al. Among authors: tsai cr. Clin Infect Dis. 2002 Apr 1;34(7):1020-4. doi: 10.1086/339445. Epub 2002 Mar 4. Clin Infect Dis. 2002. PMID: 11880970

6

Spondyloepiphyseal dysplasia tarda: report of one case.

Shu SG, Tsai CR, Chi CS. Shu SG, et al. Among authors: tsai cr. Acta Paediatr Taiwan. 2002 Mar-Apr;43(2):106-8. Acta Paediatr Taiwan. 2002. PMID: 12041616

7

Menkes gene study in the Chinese population.

Mak BS, Chi CS, Tsai CR. Mak BS, et al. Among authors: tsai cr. J Child Neurol. 2002 Apr;17(4):250-2. doi: 10.1177/088307380201700402. J Child Neurol. 2002. PMID: 12088078

8

A novel mutation in neonatal isolated sulphite oxidase deficiency.

Lee HF, Mak BS, Chi CS, Tsai CR, Chen CH, Shu SG. Lee HF, et al. Among authors: tsai cr. Neuropediatrics. 2002 Aug;33(4):174-9. doi: 10.1055/s-2002-34491. Neuropediatrics. 2002. PMID: 12368985

9

Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination.

Chi CS, Tsai CR, Chen LH, Lee HF, Mak BS, Yang SH, Wang TY, Shu SG, Chen CH. Chi CS, et al. Among authors: tsai cr. Eur J Hum Genet. 2003 Dec;11(12):931-6. doi: 10.1038/sj.ejhg.5201069. Eur J Hum Genet. 2003. PMID: 14508502

10

Wolfram syndrome: phenotype and novel mutation in two Taiwanese siblings.

Shu SG, Tsai CR, Chi CS. Shu SG, et al. Among authors: tsai cr. J Formos Med Assoc. 2003 Nov;102(11):808-11. J Formos Med Assoc. 2003. PMID: 14724730

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