Found: 7
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Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The Genetics of Glucose-6-Phosphate-Dehydrogenase (G6PD) and Uridine Diphosphate Glucuronosyl Transferase 1A1 (UGT1A1) Promoter Gene Polymorphism in Relation to Quantitative Biochemical G6PD Activity Measurement and Neonatal Hyperbilirubinemia.
- Published in:
- Children, 2023, v. 10, n. 7, p. 1172, doi. 10.3390/children10071172
- By:
- Publication type:
- Article
The Effects of Rudeness on NICU Medical Teams Studied by a New Tool for the Assessment of Decision-Making Group Dynamics.
- Published in:
- Children, 2022, v. 9, n. 10, p. 1436, doi. 10.3390/children9101436
- By:
- Publication type:
- Article
Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.
- Published in:
- Neurochemical Research, 2019, v. 44, n. 10, p. 2372, doi. 10.1007/s11064-019-02786-5
- By:
- Publication type:
- Article
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 232, doi. 10.1002/jimd.12580
- By:
- Publication type:
- Article
PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis.
- Published in:
- Genes, 2023, v. 14, n. 5, p. 1031, doi. 10.3390/genes14051031
- By:
- Publication type:
- Article
Umbilical Cord and Neonatal Transthyretin and Their Relationship to Growth and Nutrition in Preterm Infants.
- Published in:
- Rambam Maimonides Medical Journal, 2022, v. 13, n. 2, p. 1, doi. 10.5041/RMMJ.10470
- By:
- Publication type:
- Article