E-LIB Suche - Ergebnisse für: Ho, Gladys

1

Genomic multidisciplinary teams: A model for navigating gen..:

Ma, Alan ; Newing, Timothy P ; O'Shea, Rosie...
Journal of Paediatrics and Child Health. 60 (2024) 4-5 - p. 118-124 , 2024

Link: https://doi.org/10.1111/..

2

P191: Mitochondrial dysfunction in Rett syndrome: Searching..:

Hertzog, Ashley ; Tolun, Adviye Ayper ; Ellaway, Carolyn..
Genetics in Medicine Open. 1 (2023) 1 - p. 100220 , 2023

Link: https://doi.org/10.1016/..

3

The Australian Reproductive Genetic Carrier Screening Proje..:

Archibald, Alison D. ; McClaren, Belinda J. ; Caruana, Jade...
Journal of Personalized Medicine. 12 (2022) 11 - p. 1781 , 2022

Link: https://doi.org/10.3390/..

4

Genomic testing for children with interstitial and diffuse ..:

Kelada, Lauren ; Wakefield, Claire ; Vidic, Nada...
BMJ Open Respiratory Research. 9 (2022) 1 - p. e001139 , 2022

Link: https://doi.org/10.1136/..

5

Whole Genome Sequencing, Focused Assays and Functional Stud..:

Nash, Benjamin M. ; Ma, Alan ; Ho, Gladys...
International Journal of Molecular Sciences. 23 (2022) 7 - p. 3905 , 2022

Link: https://doi.org/10.3390/..

6

A case of QARS1 associated epileptic encephalopathy and rev..:

Chan, Denise L. ; Rudinger-Thirion, Joëlle ; Frugier, Magali...
Brain and Development. 44 (2022) 2 - p. 142-147 , 2022

Link: https://doi.org/10.1016/..

7

Intronic variants in inborn errors of metabolism: Beyond th..:

Hertzog, Ashley ; Selvanathan, Arthavan ; Farnsworth, Elizabeth...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

8

SPG11 presenting with dystonic tremor in childhood:

Innes, Emily A. ; Goetti, Robert ; Mahant, Neil...
Parkinsonism & Related Disorders. 99 (2022) - p. 76-78 , 2022

Link: https://doi.org/10.1016/..

9

Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is a..:

Jones, Hannah F. ; Stoll, Marion ; Ho, Gladys...
Brain and Development. 44 (2022) 2 - p. 153-160 , 2022

Link: https://doi.org/10.1016/..

10

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrom..:

Beaman, Glenda M. ; Lopes, Filipa M. ; Hofmann, Aybike...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

11

The role of exome sequencing in childhood interstitial or d..:

Temple, Suzanna E. L. ; Ho, Gladys ; Bennetts, Bruce...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

12

Functional assay for analysis of variants of uncertain sign..:

Balasubramaniam, Shanti ; Chin, Sharon ; Ho, Gladys...
Pathology. 53 (2021) - p. S42 , 2021

Link: https://doi.org/10.1016/..

13

Paternal retraction of a fragile X allele to normal size, s..:

Bartlett, Essra ; Archibald, Alison D. ; Francis, David...
American Journal of Medical Genetics Part A. 188 (2021) 1 - p. 304-309 , 2021

Link: https://doi.org/10.1002/..

14

Australia and New Zealand renal gene panel testing in routi..:

Tanudisastro, Hope A. ; Holman, Katherine ; Ho, Gladys...
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

15

Genome sequencing in congenital cataracts improves diagnost..:

Ma, Alan ; Grigg, John R. ; Flaherty, Maree...
Human Mutation. 42 (2021) 9 - p. 1173-1183 , 2021

Link: https://doi.org/10.1002/..