Found: 17
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COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Influence of enteral feeding and anemia on tissue oxygen extraction after red blood cell transfusion in preterm infants.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Tutorial: Triheptanoin and Nutrition Management for Treatment of Long‐Chain Fatty Acid Oxidation Disorders.
- Published in:
- JPEN Journal of Parenteral & Enteral Nutrition, 2021, v. 45, n. 2, p. 230, doi. 10.1002/jpen.2034
- By:
- Publication type:
- Article
Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 326, doi. 10.1002/jimd.12595
- By:
- Publication type:
- Article
Factor VIII and vWF deficiency in STT3A‐CDG.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 325, doi. 10.1002/jimd.12021
- By:
- Publication type:
- Article
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 67, doi. 10.1002/jmd2.12217
- By:
- Publication type:
- Article
Regulation of synaptic transmission at the photoreceptor terminal: a novel role for the cation-chloride co-transporter NKCC1.
- Published in:
- Journal of Physiology, 2013, v. 591, n. 1, p. 133, doi. 10.1113/jphysiol.2012.241042
- By:
- Publication type:
- Article
Distribution of cervical intraepithelial neoplasia on the cervix in Chinese women: pooled analysis of 19 population based screening studies.
- Published in:
- BMC Cancer, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12885-015-1494-4
- By:
- Publication type:
- Article
Distribution of cervical intraepithelial neoplasia on the cervix in Chinese women: pooled analysis of 19 population based screening studies.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 213, doi. 10.1002/ajmg.a.61914
- By:
- Publication type:
- Article
Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1675, doi. 10.1002/ajmg.a.38839
- By:
- Publication type:
- Article
Cover Image, Volume 176A, Number 7, July 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. i, doi. 10.1002/ajmg.a.40365
- By:
- Publication type:
- Article
Novel pregnancy-triggered episodes of CAPOS syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 235, doi. 10.1002/ajmg.a.38502
- By:
- Publication type:
- Article
Short-term Neurodevelopmental Outcomes in Neonates with Congenital Heart Disease: The Era of Newer Surgical Strategies.
- Published in:
- Congenital Heart Disease, 2012, v. 7, n. 6, p. 544, doi. 10.1111/j.1747-0803.2012.00678.x
- By:
- Publication type:
- Article
The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1172
- By:
- Publication type:
- Article
Effect of an educational intervention on HPV knowledge and vaccine attitudes among urban employed women and female undergraduate students in China: a cross-sectional study.
- Published in:
- BMC Public Health, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2458-13-916
- By:
- Publication type:
- Article
Effect of an educational intervention on HPV knowledge and vaccine attitudes among urban employed women and female undergraduate students in China: a cross-sectional study.
- Published in:
- 2013
- By:
- Publication type:
- journal article