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September 12, 2012
Detection of common mutations in the GALT gene through ARMS
Umair Mahmood, Muhammad Imran, Salma Iqbal Naik, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
July 23, 2020
Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene
Nadia Waheed, Anjum Saeed, Sadaqat Ijaz, et al.
Case Reports in Perinatal Medicine
|
May 5, 2025
Aromatase deficiency due to novel <i>CYP19A1</i> mutation: a rare cause of maternal and fetal virilization
Aamir Naseem, Muhammad Zahid, Kashan Arshad, et al.
Hormone Research in Paediatrics
|
August 25, 2025
Clinical Spectrum of Primary Hypomagnesemia with Secondary Hypocalcemia due to TRPM6 Mutation
Sommayya Aftab, Muhammad Nadeem Anjum, Nida Aslam, et al.
JPMA. the Journal of the Pakistan Medical Association
|
January 2, 2022
Very early onset inflammatory bowel disease: Spectrum of clinical presentation, diagnostic tools and outcome in children
Huma Arshad Cheema, Nadia Waheed, Anjum Saeed, et al.
The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology
|
August 21, 2023
Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children
Huma Arshad Cheema, Zafar Fayyaz, Anjum Saeed, et al.
Plos One
|
January 14, 2022
Viral dysbiosis in children with new-onset celiac disease
Mohammad El Mouzan, Asaad Assiri, Ahmed Al Sarkhy, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
August 21, 2024
Diabetes and <i>CFAP126 gene</i> mutation; are they really linked together?
Kashan Arshad, Aamir Naseem, Syed Saddam Hussain, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
December 16, 2022
Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by <i>CYP27B1</i> mutation in resource limited countries
Sommayya Aftab, Sabeen Abid Khan, Munir Iqbal Malik, et al.
Saudi Medical Journal
|
August 15, 2018
Efficacy and safety of endoscopic dilatation in the management of esophageal strictures in children
Ahmed A Al Sarkhy, Anjum Saeed, Yassin H Hamid, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 49) with videos related to
Sort By:
Page
of 5
Gene
|
September 12, 2012
Detection of common mutations in the GALT gene through ARMS
Umair Mahmood, Muhammad Imran, Salma Iqbal Naik, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
July 23, 2020
Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene
Nadia Waheed, Anjum Saeed, Sadaqat Ijaz, et al.
Case Reports in Perinatal Medicine
|
May 5, 2025
Aromatase deficiency due to novel <i>CYP19A1</i> mutation: a rare cause of maternal and fetal virilization
Aamir Naseem, Muhammad Zahid, Kashan Arshad, et al.
Hormone Research in Paediatrics
|
August 25, 2025
Clinical Spectrum of Primary Hypomagnesemia with Secondary Hypocalcemia due to TRPM6 Mutation
Sommayya Aftab, Muhammad Nadeem Anjum, Nida Aslam, et al.
JPMA. the Journal of the Pakistan Medical Association
|
January 2, 2022
Very early onset inflammatory bowel disease: Spectrum of clinical presentation, diagnostic tools and outcome in children
Huma Arshad Cheema, Nadia Waheed, Anjum Saeed, et al.
The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology
|
August 21, 2023
Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children
Huma Arshad Cheema, Zafar Fayyaz, Anjum Saeed, et al.
Plos One
|
January 14, 2022
Viral dysbiosis in children with new-onset celiac disease
Mohammad El Mouzan, Asaad Assiri, Ahmed Al Sarkhy, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
August 21, 2024
Diabetes and <i>CFAP126 gene</i> mutation; are they really linked together?
Kashan Arshad, Aamir Naseem, Syed Saddam Hussain, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
December 16, 2022
Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by <i>CYP27B1</i> mutation in resource limited countries
Sommayya Aftab, Sabeen Abid Khan, Munir Iqbal Malik, et al.
Saudi Medical Journal
|
August 15, 2018
Efficacy and safety of endoscopic dilatation in the management of esophageal strictures in children
Ahmed A Al Sarkhy, Anjum Saeed, Yassin H Hamid, et al.
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of 5