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Aamira Huq

Showing results (1-10 of 14) with videos related to

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Neurology. Genetics|September 13, 2021
The Dose Makes the PoisonAmy Brodtmann, Aamira Huq
Expert Review of Molecular Diagnostics|August 13, 2024
Clinical application of whole genome sequencing in young onset dementia: challenges and opportunitiesAamira Huq, Bryony Thompson, Ingrid Winship
BMJ Case Reports|April 23, 2018
MonoMac syndrome with associated neurological deficits and longitudinally extensive cord lesionMastura Monif, Aamira Huq, Lynette Chee, et al.
BMJ Case Reports|October 26, 2018
APRT deficiency: the need for early diagnosisAamira Huq, Kushma Nand, Rajiv Juneja, et al.
Familial Cancer|November 3, 2014
Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature reviewAamira Huq, Maira Kentwell, Amanda Tirimacco, et al.
American Journal of Ophthalmology|January 2, 2023
The Diagnostic Yield of Next Generation Sequencing in Inherited Retinal Diseases: A Systematic Review and Meta-analysisAlexis Ceecee Britten-Jones, Sena A Gocuk, Kai Lyn Goh, et al.
Acta Neuropathologica Communications|July 1, 2020
A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophyValentina Baderna, Joshua Schultz, Lisa S Kearns, et al.
Clinical & Experimental Optometry|September 15, 2024
Forty-year odyssey to Refsum disease diagnosis: impact of diagnostic delay on effective treatmentParker Truong, Heather G Mack, Andrew B Metha, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 5, 2019
Correction: Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysisLei Zhang, Yining Bao, Moeen Riaz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 19, 2019
Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysisLei Zhang, Yining Bao, Moeen Riaz, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Neurology. Genetics|September 13, 2021
The Dose Makes the PoisonAmy Brodtmann, Aamira Huq
Expert Review of Molecular Diagnostics|August 13, 2024
Clinical application of whole genome sequencing in young onset dementia: challenges and opportunitiesAamira Huq, Bryony Thompson, Ingrid Winship
BMJ Case Reports|April 23, 2018
MonoMac syndrome with associated neurological deficits and longitudinally extensive cord lesionMastura Monif, Aamira Huq, Lynette Chee, et al.
BMJ Case Reports|October 26, 2018
APRT deficiency: the need for early diagnosisAamira Huq, Kushma Nand, Rajiv Juneja, et al.
Familial Cancer|November 3, 2014
Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature reviewAamira Huq, Maira Kentwell, Amanda Tirimacco, et al.
American Journal of Ophthalmology|January 2, 2023
The Diagnostic Yield of Next Generation Sequencing in Inherited Retinal Diseases: A Systematic Review and Meta-analysisAlexis Ceecee Britten-Jones, Sena A Gocuk, Kai Lyn Goh, et al.
Acta Neuropathologica Communications|July 1, 2020
A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophyValentina Baderna, Joshua Schultz, Lisa S Kearns, et al.
Clinical & Experimental Optometry|September 15, 2024
Forty-year odyssey to Refsum disease diagnosis: impact of diagnostic delay on effective treatmentParker Truong, Heather G Mack, Andrew B Metha, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 5, 2019
Correction: Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysisLei Zhang, Yining Bao, Moeen Riaz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 19, 2019
Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysisLei Zhang, Yining Bao, Moeen Riaz, et al.
Pageof 2