Found: 14
Select item for more details and to access through your institution.
A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 162, doi. 10.1023/A:1005399810735
- By:
- Publication type:
- Article
Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 539, doi. 10.1023/A:1005305614374
- By:
- Publication type:
- Article
Novel biallelic SZT2 mutations in 3 cases of early‐onset epileptic encephalopathy.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 2, p. 266, doi. 10.1111/cge.13061
- By:
- Publication type:
- Article
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.
- Published in:
- Clinical Genetics, 2015, v. 87, n. 2, p. 141, doi. 10.1111/cge.12355
- By:
- Publication type:
- Article
Acute hemicerebellitis in a pediatric patient: a case report of a serial MR spectroscopy study.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
1p36 deletion syndrome associated with Prader–Willi-like phenotype.
- Published in:
- 2010
- By:
- Publication type:
- Journal Article
Isolation and characterization of avian influenza viruses from raw poultry products illegally imported to Japan by international flight passengers.
- Published in:
- Transboundary & Emerging Diseases, 2018, v. 65, n. 2, p. 465, doi. 10.1111/tbed.12726
- By:
- Publication type:
- Article
The slow Wallerian degeneration gene, WldS, inhibits axonal spheroid pathology in gracile axonal dystrophy mice.
- Published in:
- 2005
- By:
- Publication type:
- Journal Article
An Expert System for Tunnel Design.
- Published in:
- Computer-Aided Civil & Infrastructure Engineering, 1990, v. 5, n. 1, p. 3, doi. 10.1111/j.1467-8667.1990.tb00037.x
- By:
- Publication type:
- Article
Thoracoscopic internal mammary sentinel node biopsy for breast cancer.
- Published in:
- 2003
- By:
- Publication type:
- journal article
FRAX score and recent fall history predict the incidence for sarcopenia in community-dwelling older adults: a prospective cohort study.
- Published in:
- Osteoporosis International, 2020, v. 31, n. 10, p. 1985, doi. 10.1007/s00198-020-05447-4
- By:
- Publication type:
- Article
Prognostic impact of PCR-based identification of isolated tumour cells in the peritoneal lavage fluid of gastric cancer patients who underwent a curative R0 resection.
- Published in:
- British Journal of Cancer, 2007, v. 97, n. 4, p. 550, doi. 10.1038/sj.bjc.6603909
- By:
- Publication type:
- Article
Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity.
- Published in:
- 1999
- By:
- Publication type:
- journal article
6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study.
- Published in:
- Movement Disorders, 1997, v. 12, n. 3, p. 408, doi. 10.1002/mds.870120321
- By:
- Publication type:
- Article