Found: 12
Select item for more details and to access through your institution.
Endoscopic Findings and Correlation with Outcome in Oesophagal Battery Button Ingestion in Children.
- Published in:
- Pakistan Armed Forces Medical Journal, 2024, v. 74, n. 2, p. 549, doi. 10.51253/pafmj.v74i2.9601
- By:
- Publication type:
- Article
Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children.
- Published in:
- Turkish Journal of Gastroenterology, 2023, v. 34, n. 10, p. 1088, doi. 10.5152/tjg.2023.22791
- By:
- Publication type:
- Article
The mutational landscape of genetic cholestatic diseases in Pakistani children.
- Published in:
- Journal of the Pakistan Medical Association, 2023, v. 73, n. 8, p. 1610, doi. 10.47391/JPMA.7069
- By:
- Publication type:
- Article
Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 2, p. 152, doi. 10.1515/jpem-2022-0550
- By:
- Publication type:
- Article
Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 11, p. 1429, doi. 10.1515/jpem-2022-0214
- By:
- Publication type:
- Article
Assessment of Quality of Life Among Children with Inflammatory Bowel Disease.
- Published in:
- Pakistan Armed Forces Medical Journal, 2022, v. 72, n. 5, p. 1698, doi. 10.51253/pafmj.v72i5.6845
- By:
- Publication type:
- Article
PHENOTYPIC AND GENOTYPIC CHARACTERISTICS OF PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3 IN PEDIATRIC POPULATION IN PAKISTAN.
- Published in:
- Khyber Medical University Journal, 2022, v. 14, n. 1, p. 11, doi. 10.35845/kmuj.2022.21935
- By:
- Publication type:
- Article
Very early onset inflammatory bowel disease: Spectrum of clinical presentation, diagnostic tools and outcome in children.
- Published in:
- Journal of the Pakistan Medical Association, 2021, v. 71, n. 10, p. 2350, doi. 10.47391/JPMA.05-725
- By:
- Publication type:
- Article
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00150-z
- By:
- Publication type:
- Article
Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 9, p. 1117, doi. 10.1515/jpem-2019-0603
- By:
- Publication type:
- Article
Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients.
- Published in:
- Pakistan Journal of Medical Sciences, 2020, v. 36, n. 3, p. 479, doi. 10.12669/pjms.36.3.467
- By:
- Publication type:
- Article
Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 11, p. 1221, doi. 10.1515/jpem-2019-0188
- By:
- Publication type:
- Article