Search Results - "Azim, Saad"
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A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias
Published in PloS one (04-12-2014)“…The diagnosis of childhood neurological disorders remains challenging given the overlapping clinical presentation across subgroups and heterogeneous…”
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Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds
Published in BMC musculoskeletal disorders (30-08-2022)“…Skeletal dysplasia is a heterogeneous group of disorders. Spondyloepiphyseal dysplasias comprise one subgroup. Deficiency of carbohydrate sulfotransferase 3…”
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Comparative study of fractional Erbium: YAG laser vs combined therapy with topical steroid as an adjuvant treatment in melasma
Published in Journal of cosmetic dermatology (01-04-2019)“…Summary Background Melasma is an acquired disorder of symmetrical hyperpigmentation. Several treatment methods are available for patients with melasma,…”
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Predictive values of some atherogenic risk factors in young workers occupationally exposed to vinyl chloride and heavy metals
Published in Arabian journal of chemistry (01-01-2017)“…Traditional risk factors do not explain all of the risk for incident coronary heart disease (CHD) events. Human susceptibility to atherosclerosis and…”
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Analysis of pattern of mortality in Medicine and Allied Departments at a tertiary care hospital in Islamabad: A losing battle against sepsis
Published in Journal of the Pakistan Medical Association (01-01-2017)“…To identify the pattern of mortality in medical wards of a tertiary care hospital. This retrospective study was conducted at the Khan Research Laboratories…”
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Assessment of fasting and two-hour post-prandial glucose as an economical test for monitoring of glycemic control, compared to glycated haemo-globin
Published in Medical channel (30-06-2011)Get full text
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A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias: e113258
Published in PloS one (01-12-2014)“…The diagnosis of childhood neurological disorders remains challenging given the overlapping clinical presentation across subgroups and heterogeneous…”
Get full text
Journal Article -
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Biochemical pattern of liver function tests in hepatitis E epidemic
Published in Pakistan Armed Forces medical journal (30-06-2011)Get full text
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