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Australian Family Physician
|
April 5, 2017
Advances in genomic testing
Sarah Donoghue, Lilian Downie, Chloe Stutterd
Clinical Case Reports
|
July 30, 2024
Pain management challenges in a patient with mucopolysaccharidosis IVA
Marcus Gurgius, Sarah Donoghue, Robyn A Wallace
Ophthalmic Genetics
|
June 6, 2022
Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI
Tanya Kowalski, Sarah Donoghue, Gerard de Jong, et al.
JIMD Reports
|
March 17, 2021
Early-onset vitamin B<sub>6</sub>-dependent epilepsy due to pathogenic <i>PLPBP</i> variants in a premature infant: A case report and review of the literature
Oliver Heath, James Pitt, Simone Mandelstam, et al.
Molecular Genetics and Metabolism
|
March 1, 2024
The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment
Sarah Donoghue, Jordan Wright, Anne K Voss, et al.
American Journal of Medical Genetics. Part A
|
July 30, 2022
The experience of one pediatric geneticist with telemedicine-based clinical diagnosis
Ian M Campbell, T Blaine Crowley, Beth Keena, et al.
Clinical Genetics
|
October 5, 2024
Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies
Antonia M Stehr, Jerica Lenberg, Jennifer Friedman, et al.
American Journal of Medical Genetics. Part A
|
December 28, 2020
Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females
Kathryn Clarkston, Joy Lee, Sarah Donoghue, et al.
Genetics in Medicine Open
|
December 3, 2025
Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity
James H Nurse, Julia B Hennermann, Marco A Curiati, et al.
European Journal of Human Genetics : EJHG
|
June 9, 2025
Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome
Dong Li, Leticia S Matsuoka, Sarah Donoghue, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 18) with videos related to
Sort By:
Page
of 2
Australian Family Physician
|
April 5, 2017
Advances in genomic testing
Sarah Donoghue, Lilian Downie, Chloe Stutterd
Clinical Case Reports
|
July 30, 2024
Pain management challenges in a patient with mucopolysaccharidosis IVA
Marcus Gurgius, Sarah Donoghue, Robyn A Wallace
Ophthalmic Genetics
|
June 6, 2022
Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI
Tanya Kowalski, Sarah Donoghue, Gerard de Jong, et al.
JIMD Reports
|
March 17, 2021
Early-onset vitamin B<sub>6</sub>-dependent epilepsy due to pathogenic <i>PLPBP</i> variants in a premature infant: A case report and review of the literature
Oliver Heath, James Pitt, Simone Mandelstam, et al.
Molecular Genetics and Metabolism
|
March 1, 2024
The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment
Sarah Donoghue, Jordan Wright, Anne K Voss, et al.
American Journal of Medical Genetics. Part A
|
July 30, 2022
The experience of one pediatric geneticist with telemedicine-based clinical diagnosis
Ian M Campbell, T Blaine Crowley, Beth Keena, et al.
Clinical Genetics
|
October 5, 2024
Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies
Antonia M Stehr, Jerica Lenberg, Jennifer Friedman, et al.
American Journal of Medical Genetics. Part A
|
December 28, 2020
Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females
Kathryn Clarkston, Joy Lee, Sarah Donoghue, et al.
Genetics in Medicine Open
|
December 3, 2025
Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity
James H Nurse, Julia B Hennermann, Marco A Curiati, et al.
European Journal of Human Genetics : EJHG
|
June 9, 2025
Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome
Dong Li, Leticia S Matsuoka, Sarah Donoghue, et al.
Page
of 2