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Scientific Reports
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October 15, 2025
Evaluating the utility of growth differentiation factor 15 and fibroblast growth factor 21 as blood biomarkers for Rett syndrome
Ashley Hertzog, Adviye Ayper Tolun, Alexander D Wykes, et al.
Clinical Biochemistry
|
February 15, 2012
The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening
Theodoros Georgiou, Gladys Ho, Marios Vogazianos, et al.
American Journal of Medical Genetics. Part A
|
March 3, 2012
Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome
Roksana Armani, Hayley Archer, Angus Clarke, et al.
Frontiers in Genetics
|
December 23, 2022
Intronic variants in inborn errors of metabolism: Beyond the exome
Ashley Hertzog, Arthavan Selvanathan, Elizabeth Farnsworth, et al.
Kidney Medicine
|
August 1, 2020
Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation
Andrew J Mallett, Catherine Quinlan, Chirag Patel, et al.
European Journal of Human Genetics : EJHG
|
September 13, 2012
14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype
Carolyn J Ellaway, Gladys Ho, Elisa Bettella, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
|
December 8, 2019
Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants
Rebecca Hudson, Chirag Patel, Carmel M Hawley, et al.
International Journal of Neonatal Screening
|
June 2, 2021
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning
Mona Sajeev, Sharon Chin, Gladys Ho, et al.
Kidney International
|
August 29, 2017
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders
Andrew J Mallett, Hugh J McCarthy, Gladys Ho, et al.
Journal of Medical Genetics
|
October 26, 2021
Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to <i>FANCD1/BRCA2</i> during adulthood: description of an emerging phenotype
Emilia Ip, Catriona McNeil, Peter Grimison, et al.
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of 5
Search research articles
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Showing results (11-20 of 43) with videos related to
Sort By:
Page
of 5
Scientific Reports
|
October 15, 2025
Evaluating the utility of growth differentiation factor 15 and fibroblast growth factor 21 as blood biomarkers for Rett syndrome
Ashley Hertzog, Adviye Ayper Tolun, Alexander D Wykes, et al.
Clinical Biochemistry
|
February 15, 2012
The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening
Theodoros Georgiou, Gladys Ho, Marios Vogazianos, et al.
American Journal of Medical Genetics. Part A
|
March 3, 2012
Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome
Roksana Armani, Hayley Archer, Angus Clarke, et al.
Frontiers in Genetics
|
December 23, 2022
Intronic variants in inborn errors of metabolism: Beyond the exome
Ashley Hertzog, Arthavan Selvanathan, Elizabeth Farnsworth, et al.
Kidney Medicine
|
August 1, 2020
Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation
Andrew J Mallett, Catherine Quinlan, Chirag Patel, et al.
European Journal of Human Genetics : EJHG
|
September 13, 2012
14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype
Carolyn J Ellaway, Gladys Ho, Elisa Bettella, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
|
December 8, 2019
Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants
Rebecca Hudson, Chirag Patel, Carmel M Hawley, et al.
International Journal of Neonatal Screening
|
June 2, 2021
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning
Mona Sajeev, Sharon Chin, Gladys Ho, et al.
Kidney International
|
August 29, 2017
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders
Andrew J Mallett, Hugh J McCarthy, Gladys Ho, et al.
Journal of Medical Genetics
|
October 26, 2021
Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to <i>FANCD1/BRCA2</i> during adulthood: description of an emerging phenotype
Emilia Ip, Catriona McNeil, Peter Grimison, et al.
Page
of 5