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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.
Life Science Alliance
|
January 12, 2023
Secondary findings in a large Pakistani cohort tested with whole genome sequencing
Aliaksandr Skrahin, Huma Arshad Cheema, Maqbool Hussain, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
October 11, 2017
Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families
Sadaqat Ijaz, Muhammad Yasir Zahoor, Muhammad Imran, et al.
European Journal of Human Genetics : EJHG
|
December 12, 2024
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism
Fatima Rahman, Luisa Marsili, Domizia Pasquetti, et al.
Brain : a Journal of Neurology
|
October 8, 2025
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects
Saikat Ghosh, Jaskaran Singh, Nadirah S Damseh, et al.
European Journal of Human Genetics : EJHG
|
May 25, 2022
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients
Ligia S Almeida, Catarina Pereira, Ruxandra Aanicai, et al.
Biorxiv : the Preprint Server for Biology
|
May 10, 2023
A transposase-derived gene required for human brain development
Luz Jubierre Zapater, Sara A Lewis, Rodrigo Lopez Gutierrez, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder
Gabriel Aughey, Elisa Cali, Reza Maroofian, et al.
Science Advances
|
January 14, 2026
A transposase-derived gene required for human brain development
Luz Jubierre Zapater, Sara A Lewis, Rodrigo Lopez Gutierrez, et al.
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Search research articles
Search
Showing results (41-50 of 56) with videos related to
Sort By:
Page
of 6
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.
Life Science Alliance
|
January 12, 2023
Secondary findings in a large Pakistani cohort tested with whole genome sequencing
Aliaksandr Skrahin, Huma Arshad Cheema, Maqbool Hussain, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
October 11, 2017
Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families
Sadaqat Ijaz, Muhammad Yasir Zahoor, Muhammad Imran, et al.
European Journal of Human Genetics : EJHG
|
December 12, 2024
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism
Fatima Rahman, Luisa Marsili, Domizia Pasquetti, et al.
Brain : a Journal of Neurology
|
October 8, 2025
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects
Saikat Ghosh, Jaskaran Singh, Nadirah S Damseh, et al.
European Journal of Human Genetics : EJHG
|
May 25, 2022
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients
Ligia S Almeida, Catarina Pereira, Ruxandra Aanicai, et al.
Biorxiv : the Preprint Server for Biology
|
May 10, 2023
A transposase-derived gene required for human brain development
Luz Jubierre Zapater, Sara A Lewis, Rodrigo Lopez Gutierrez, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder
Gabriel Aughey, Elisa Cali, Reza Maroofian, et al.
Science Advances
|
January 14, 2026
A transposase-derived gene required for human brain development
Luz Jubierre Zapater, Sara A Lewis, Rodrigo Lopez Gutierrez, et al.
Page
of 6