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BMC Research Notes
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August 2, 2019
Beyond sequencing: re-visiting annotations for PJL as a test case
Waqasuddin Khan, Aisha Ghani, Muhammad Bilal Azmi, et al.
IEEE/ACM Transactions on Computational Biology and Bioinformatics
|
October 6, 2021
Structural and Functional Impact of Damaging Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) on Human VPS35 Protein Using Computational Approaches
Mirza Jawad Ul Hasnain, Farhat Amin, Aisha Ghani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 30, 2019
The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders
Nick Dragojlovic, Clara D M van Karnebeek, Aisha Ghani, et al.
Pediatric Neurology
|
March 21, 2016
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum
Clara D M van Karnebeek, Sylvia A Tiebout, Jikkemien Niermeijer, et al.
Neurogenetics
|
July 2, 2021
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects
Clara D van Karnebeek, Ingrid Blydt-Hansen, Allison M Matthews, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 14, 2018
Atypical cerebral palsy: genomics analysis enables precision medicine
Allison M Matthews, Ingrid Blydt-Hansen, Basmah Al-Jabri, et al.
Molecular Genetics and Metabolism
|
January 15, 2018
The genotypic and phenotypic spectrum of MTO1 deficiency
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, et al.
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Search research articles
Search
Showing results (1-10 of 7) with videos related to
Sort By:
Page
of 1
BMC Research Notes
|
August 2, 2019
Beyond sequencing: re-visiting annotations for PJL as a test case
Waqasuddin Khan, Aisha Ghani, Muhammad Bilal Azmi, et al.
IEEE/ACM Transactions on Computational Biology and Bioinformatics
|
October 6, 2021
Structural and Functional Impact of Damaging Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) on Human VPS35 Protein Using Computational Approaches
Mirza Jawad Ul Hasnain, Farhat Amin, Aisha Ghani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 30, 2019
The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders
Nick Dragojlovic, Clara D M van Karnebeek, Aisha Ghani, et al.
Pediatric Neurology
|
March 21, 2016
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum
Clara D M van Karnebeek, Sylvia A Tiebout, Jikkemien Niermeijer, et al.
Neurogenetics
|
July 2, 2021
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects
Clara D van Karnebeek, Ingrid Blydt-Hansen, Allison M Matthews, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 14, 2018
Atypical cerebral palsy: genomics analysis enables precision medicine
Allison M Matthews, Ingrid Blydt-Hansen, Basmah Al-Jabri, et al.
Molecular Genetics and Metabolism
|
January 15, 2018
The genotypic and phenotypic spectrum of MTO1 deficiency
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, et al.
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of 1