Found: 9
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Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children.
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- Turkish Journal of Gastroenterology, 2023, v. 34, n. 10, p. 1088, doi. 10.5152/tjg.2023.22791
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- Article
Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis.
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- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01116-5
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- Article
Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
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- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 9, p. 1117, doi. 10.1515/jpem-2019-0603
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- Article
Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
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- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 11, p. 1221, doi. 10.1515/jpem-2019-0188
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- Article
Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 11, p. 1203, doi. 10.1515/jpem-2017-0188
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- Article
Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 3, p. 327, doi. 10.1515/jpem-2015-0289
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- Article
Novel Coronavirus (2019-NCOV) Outbreak: A Mini Review.
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- Biomedica, 2020, v. 36, p. 110
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- Article
The mutational landscape of genetic cholestatic diseases in Pakistani children.
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- Journal of the Pakistan Medical Association, 2023, v. 73, n. 8, p. 1610, doi. 10.47391/JPMA.7069
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- Article
Chanarin–Dorfman syndrome: clinical/genetic features and natural history in six Pakistani patients.
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- Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00189-2
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- Article