E-LIB Suche - Ergebnisse für: Wallis, Mathew J.

1

Implementation and Evaluation of a National Multidisciplina..:

Jayasinghe, Kushani ; Biros, Erik ; Harris, Trudie...
Kidney International Reports. , 2024

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

2

A multitiered analysis platform for genome sequencing: Desi..:

Austin, Rachel ; Brown, Jaye S. ; Casauria, Sarah...
Genetics in Medicine Open. 2 (2024) - p. 101842 , 2024

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

3

A deep intronic variant in MME causes autosomal recessive C..:

Grosz, Bianca R. ; Parmar, Jevin M. ; Ellis, Melina...
Journal of the Peripheral Nervous System. 29 (2024) 2 - p. 262-274 , 2024

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

4

Are Germline Mosaic TSC1/2 Variants Present in Controls? Im..:

Ye, Zimeng ; Lin, Sufang ; Zhao, Xia...
Pediatric Neurology. 150 (2024) - p. 37-39 , 2024

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

5

How the Australian Functional Genomics Network (AFGN) contr..:

Scott, Hamish S. ; Matotek, Ebony ; Mattiske, Tessa...
Pathology. 56 (2024) - p. S21-S22 , 2024

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

6

An intronic GAA repeat expansion in FGF14 causes the autoso..:

Rafehi, Haloom ; Read, Justin ; Szmulewicz, David J....
The American Journal of Human Genetics. 110 (2023) 1 - p. 105-119 , 2023

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

7

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome ..:

Van Bergen, Nicole J. ; Gunanayagam, Karen ; Bournazos, Adam M....
International Journal of Molecular Sciences. 24 (2023) 4 - p. 3582 , 2023

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

8

Correction: Genetic aetiologies for childhood speech disord..:

Kaspi, Antony ; Hildebrand, Michael S. ; Jackson, Victoria E....
Molecular Psychiatry. 28 (2023) 4 - p. 1664-1666 , 2023

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

9

Integrated multi-omics for rapid rare disease diagnosis on ..:

Lunke, Sebastian ; Bouffler, Sophie E. ; Patel, Chirag V....
Nature Medicine. 29 (2023) 7 - p. 1681-1691 , 2023

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

10

An intronic GAA repeat expansion in FGF14 causes the autoso..:

Rafehi, Haloom ; Read, Justin ; Szmulewicz, David J....
The American Journal of Human Genetics. 110 (2023) 6 - p. 1018 , 2023

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

11

Mosaicism in tuberous sclerosis complex: Lowering the thres..:

Ye, Zimeng ; Lin, Sufang ; Zhao, Xia...
Human Mutation. 43 (2022) 12 - p. 1956-1969 , 2022

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

12

Any symptom, in any organ, at any age: A case report of mul..:

Ratnayake, Chathri ; Rius, Rocio ; Wallis, Mathew..
Nephrology. 27 (2022) 7 - p. 640-641 , 2022

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

13

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/..

14

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Ty..:

Barbier, Mathieu ; Bahlo, Melanie ; Pennisi, Alessandra...
Annals of Neurology. 92 (2022) 1 - p. 122-137 , 2022

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

15

Genetic aetiologies for childhood speech disorder: novel pa..:

Kaspi, Antony ; Hildebrand, Michael S. ; Jackson, Victoria E....
Molecular Psychiatry. , 2022

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