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Diabetes Care
|
May 13, 2008
Association between p.Leu54Met polymorphism at the paraoxonase-1 gene and plantar fascia thickness in young subjects with type 1 diabetes
Patricia H Gallego, Maria E Craig, Anthony C Duffin, et al.
Clinical Genetics
|
January 23, 2023
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance
Melanie Leffler, Louise Christie, Anna Hackett, et al.
Diabetes Care
|
August 29, 2006
Decline in neurophysiological function after 7 years in an adolescent diabetic cohort and the role of aldose reductase gene polymorphisms
Keerthi Thamotharampillai, Albert K F Chan, Bruce Bennetts, 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.
JIMD Reports
|
July 13, 2022
A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency
Ashley Hertzog, Arthavan Selvanathan, Rebecca Halligan, et al.
Journal of Medical Genetics
|
February 26, 2025
Outcomes and experiences of genetic testing in children with congenital heart disease
Ansley M Morrish, Bridget R O'Malley, Desiree C K Hilton, 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.
American Journal of Medical Genetics. Part A
|
January 11, 2013
Maternal attitudes to newborn screening for fragile X syndrome
Louise Christie, Tiffany Wotton, Bruce Bennetts, 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.
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.
Page
of 7
Search research articles
Search
Showing results (21-30 of 67) with videos related to
Sort By:
Page
of 7
Diabetes Care
|
May 13, 2008
Association between p.Leu54Met polymorphism at the paraoxonase-1 gene and plantar fascia thickness in young subjects with type 1 diabetes
Patricia H Gallego, Maria E Craig, Anthony C Duffin, et al.
Clinical Genetics
|
January 23, 2023
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance
Melanie Leffler, Louise Christie, Anna Hackett, et al.
Diabetes Care
|
August 29, 2006
Decline in neurophysiological function after 7 years in an adolescent diabetic cohort and the role of aldose reductase gene polymorphisms
Keerthi Thamotharampillai, Albert K F Chan, Bruce Bennetts, 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.
JIMD Reports
|
July 13, 2022
A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency
Ashley Hertzog, Arthavan Selvanathan, Rebecca Halligan, et al.
Journal of Medical Genetics
|
February 26, 2025
Outcomes and experiences of genetic testing in children with congenital heart disease
Ansley M Morrish, Bridget R O'Malley, Desiree C K Hilton, 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.
American Journal of Medical Genetics. Part A
|
January 11, 2013
Maternal attitudes to newborn screening for fragile X syndrome
Louise Christie, Tiffany Wotton, Bruce Bennetts, 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.
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.
Page
of 7