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Loss-of-function mutations in ADCY3 cause monogenic severe obesity

Nature genetics, 2018-02, Vol.50 (2), p.175-179

2018

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Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five CBS mutations found in Pakistani homocystinuria patients

Nucleosides, nucleotides & nucleic acids, 2024, Vol.43 (6), p.517-529

2024

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28 Frequency and risk factors of lipohypertrophy in children and adolescent with type 1 diabetes in a single tertiary care centre

BMJ paediatrics open, 2024-05, Vol.8 (Suppl 4), p.A10-A10

2024

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Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options

Biochemical genetics, 2018-04, Vol.56 (1-2), p.7-21

2018

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Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family

Molecular biology reports, 2018-12, Vol.45 (6), p.2585-2591

2018

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Initiating newborn screening for metabolic disorders in Pakistan: A qualitative study of the early challenges and opportunities

Rare, 2023, Vol.1, p.100011, Article 100011

2023

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Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan

Frontiers in neurology, 2019-07, Vol.10, p.762-762

2019

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Frequency of JAK2 and MPL Mutation in BCR/ABL Negative Myelofibrosis in KPK

Journal of Rawalpindi Medical College, 2022-10, Vol.26 (2)

Ayesha Gul, Sheeba Ishtiaq, Hina Umair, Memoona Rasheed, Ayesha Gul, Sheeba Ishtiaq, Hina Umair, Memoona Rasheed

2022

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Need and Challenges in Establishing Newborn Screening Programs for Inherited Metabolic Disorders in Developing Countries

Advanced biology, 2023-07, Vol.7 (7), p.e2200318-n/a

2023

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Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population

Obesity (Silver Spring, Md.), 2015-08, Vol.23 (8), p.1687-1695

2015

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Label free quantitative proteomic profiling of serum samples of intellectually disabled young patients revealed dysregulation of complement coagulation and cholesterol cascade systems

Metabolic brain disease, 2024-06, Vol.39 (5), p.855-869

2024

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COVID-19 pandemic and the use of tele-health by pediatricians and pediatric post graduate residents

Journal of University Medical & Dental College, 2022-02, Vol.13 (1)

2022

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Biochemical screening of intellectually disabled and healthy children in Punjab, Pakistan: differences in liver function test and lipid profiles

International journal of developmental disabilities, 2020-05, Vol.66 (3), p.190-195

2020

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Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan

Diabetes (New York, N.Y.), 2020-07, Vol.69 (7), p.1424-1438

2020

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An Overview of Traditional and Novel Therapeutic Options for the Management of Phenylketonuria

Critical reviews in eukaryotic gene expression, 2018, Vol.28 (2), p.177

2018

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High levels of blood glutamic acid and ornithine in children with intellectual disability

International journal of developmental disabilities, 2022, Vol.68 (5), p.609-614

2022

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X-DR (Drug Resistant) typhoid fever in children

The professional medical journal, 2020-09, Vol.27 (9), p.1947-1951

2020

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Diagnostic accuracy of Yale observational scale in bacteremia in infants and children

The professional medical journal, 2020-07, Vol.27 (7), p.1346-1352

2020

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Frequency of valproic acid induced thrombocytopenia in epileptic patients in Tertiary Care Hospital, Faisalabad

The professional medical journal, 2020-06, Vol.27 (6), p.1108-1112

2020

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Erratum: Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population

Obesity (Silver Spring, Md.), 2017-04, Vol.25 (4), p.807-807

2017

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High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor

Cell reports. Medicine, 2023-09, Vol.4 (9), p.101187-101187, Article 101187

2023

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TREATMENT OF BRONCHIOLITIS: ROLE OF INHALED β-AGONISTS IN INFANTS AND CHILDREN

The professional medical journal, 2015-09, Vol.22 (9), p.1126-1131

2015

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ACUTE SEVERE ASTHMA IN CHILDREN: ROLE OF INTRAVENOUS MAGNESIUM SULFATE IN TREATMENT

The professional medical journal, 2015-08, Vol.22 (8), p.1039-1043

2015

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Clinical diversity in pediatric homocystinuria: A case series of siblings

Medical Reports, 2023-12, Vol.2, p.100019, Article 100019

2023

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SERUM MAGNESIUM LEVEL: COMPARISON BETWEEN HEALTHY AND MALNOURISHED CHILDREN

The professional medical journal, 2010-06, Vol.17 (2), p.279-285

2010

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Loss-of-function mutations in ADCY3 cause monogenic severe obesity

Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five CBS mutations found in Pakistani homocystinuria patients

28 Frequency and risk factors of lipohypertrophy in children and adolescent with type 1 diabetes in a single tertiary care centre

Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options

Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family

Initiating newborn screening for metabolic disorders in Pakistan: A qualitative study of the early challenges and opportunities

Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan

Frequency of JAK2 and MPL Mutation in BCR/ABL Negative Myelofibrosis in KPK

Need and Challenges in Establishing Newborn Screening Programs for Inherited Metabolic Disorders in Developing Countries

Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population

Label free quantitative proteomic profiling of serum samples of intellectually disabled young patients revealed dysregulation of complement coagulation and cholesterol cascade systems

COVID-19 pandemic and the use of tele-health by pediatricians and pediatric post graduate residents

Biochemical screening of intellectually disabled and healthy children in Punjab, Pakistan: differences in liver function test and lipid profiles

Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan

An Overview of Traditional and Novel Therapeutic Options for the Management of Phenylketonuria

High levels of blood glutamic acid and ornithine in children with intellectual disability

X-DR (Drug Resistant) typhoid fever in children

Diagnostic accuracy of Yale observational scale in bacteremia in infants and children

Frequency of valproic acid induced thrombocytopenia in epileptic patients in Tertiary Care Hospital, Faisalabad

Erratum: Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population

High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor

TREATMENT OF BRONCHIOLITIS: ROLE OF INHALED β-AGONISTS IN INFANTS AND CHILDREN

ACUTE SEVERE ASTHMA IN CHILDREN: ROLE OF INTRAVENOUS MAGNESIUM SULFATE IN TREATMENT

Clinical diversity in pediatric homocystinuria: A case series of siblings

SERUM MAGNESIUM LEVEL: COMPARISON BETWEEN HEALTHY AND MALNOURISHED CHILDREN

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