Found: 12
Select item for more details and to access through your institution.
Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 12, p. 861, doi. 10.1038/jhg.2011.119
- By:
- Publication type:
- Article
Identification of five mutations in a patient with galactose metabolic disorders.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 2, p. 221, doi. 10.1515/jpem-2017-0438
- By:
- Publication type:
- Article
Rare cases of galactose metabolic disorders: identification of more than two mutations per patient.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 10, p. 1119, doi. 10.1515/jpem-2017-0263
- By:
- Publication type:
- Article
Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 7, p. 775, doi. 10.1515/jpem-2017-0065
- By:
- Publication type:
- Article
Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 3, p. 389, doi. 10.1515/jpem-2015-0387
- By:
- Publication type:
- Article
Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 1, p. 15, doi. 10.1515/jpem-2015-0132
- By:
- Publication type:
- Article
Early screening of FTO and MC4R variants in newborns of Greek origin.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 5/6, p. 619, doi. 10.1515/jpem-2014-0320
- By:
- Publication type:
- Article
Erratum to: Expanded newborn screening in Greece: 30 months of experience.
- Published in:
- 2013
- By:
- Publication type:
- Correction Notice
Expanded newborn screening in Greece: 30 months of experience.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 341, doi. 10.1007/s10545-010-9181-8
- By:
- Publication type:
- Article
Homologous Recombination Deficiency Score Determined by Genomic Instability in a Romanian Cohort.
- Published in:
- Diagnostics (2075-4418), 2023, v. 13, n. 11, p. 1896, doi. 10.3390/diagnostics13111896
- By:
- Publication type:
- Article
Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.
- Published in:
- BMC Cancer, 2010, v. 10, p. 544, doi. 10.1186/1471-2407-10-544
- By:
- Publication type:
- Article
Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients.
- Published in:
- BMC Cancer, 2010, v. 10, p. 389, doi. 10.1186/1471-2407-10-389
- By:
- Publication type:
- Article