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The Journal of Allergy and Clinical Immunology. in Practice
|
February 5, 2021
Mepolizumab and Oral Corticosteroid Stewardship: Data from the Australian Mepolizumab Registry
Dennis Thomas, Erin S Harvey, Vanessa M McDonald, et al.
Journal of Inherited Metabolic Disease
|
July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
Ruqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
The Journal of Allergy and Clinical Immunology
|
November 14, 2021
Thunderstorm asthma in seasonal allergic rhinitis: The TAISAR study
Jo A Douglass, Caroline Lodge, Samantha Chan, et al.
Genome Medicine
|
May 21, 2025
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
Daniella H Hock, Nikeisha J Caruana, Liana N Semcesen, et al.
Nature Communications
|
May 12, 2021
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype
Marija Kojic, Tomasz Gawda, Monika Gaik, et al.
Journal of Inherited Metabolic Disease
|
November 17, 2020
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
Curtis R Coughlin, Laura A Tseng, Jose E Abdenur, et al.
Journal of Inherited Metabolic Disease
|
February 12, 2019
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
Ruqaiah Altassan, Romain Péanne, Jaak Jaeken, et al.
The Lancet. Planetary Health
|
June 9, 2018
The Melbourne epidemic thunderstorm asthma event 2016: an investigation of environmental triggers, effect on health services, and patient risk factors
Francis Thien, Paul J Beggs, Danny Csutoros, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 21, 2024
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses
Rocio Rius, Alison G Compton, Naomi L Baker, et al.
Human Mutation
|
March 1, 2019
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
Bobby G Ng, Paulina Sosicka, Satish Agadi, et al.
Page
of 9
Search research articles
Search
Showing results (71-80 of 81) with videos related to
Sort By:
Page
of 9
The Journal of Allergy and Clinical Immunology. in Practice
|
February 5, 2021
Mepolizumab and Oral Corticosteroid Stewardship: Data from the Australian Mepolizumab Registry
Dennis Thomas, Erin S Harvey, Vanessa M McDonald, et al.
Journal of Inherited Metabolic Disease
|
July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
Ruqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
The Journal of Allergy and Clinical Immunology
|
November 14, 2021
Thunderstorm asthma in seasonal allergic rhinitis: The TAISAR study
Jo A Douglass, Caroline Lodge, Samantha Chan, et al.
Genome Medicine
|
May 21, 2025
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
Daniella H Hock, Nikeisha J Caruana, Liana N Semcesen, et al.
Nature Communications
|
May 12, 2021
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype
Marija Kojic, Tomasz Gawda, Monika Gaik, et al.
Journal of Inherited Metabolic Disease
|
November 17, 2020
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
Curtis R Coughlin, Laura A Tseng, Jose E Abdenur, et al.
Journal of Inherited Metabolic Disease
|
February 12, 2019
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
Ruqaiah Altassan, Romain Péanne, Jaak Jaeken, et al.
The Lancet. Planetary Health
|
June 9, 2018
The Melbourne epidemic thunderstorm asthma event 2016: an investigation of environmental triggers, effect on health services, and patient risk factors
Francis Thien, Paul J Beggs, Danny Csutoros, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 21, 2024
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses
Rocio Rius, Alison G Compton, Naomi L Baker, et al.
Human Mutation
|
March 1, 2019
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
Bobby G Ng, Paulina Sosicka, Satish Agadi, et al.
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of 9