E-LIB Suche - Ergebnisse für: Natasha Brown

1

Narrowing the diagnostic gap: Genomes, episignatures, long-..:

Dias, Kerith-Rae ; Shrestha, Rupendra ; Schofield, Deborah...
Genetics in Medicine. 26 (2024) 5 - p. 101076 , 2024

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

2

Diagnosis and stabilisation of familial chylomicronemia syn..:

Heath, Oliver ; Allender, Brooke ; Smith, Joel...
JIMD Reports. , 2024

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

3

Improving genetic diagnostic yield in a large cohort of chi..:

Green, Timothy E. ; Garza, Denisse ; Brown, Natasha J....
Genetics in Medicine Open. 2 (2024) - p. 100837 , 2024

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

4

De novo enhancer deletion of LMX1B produces a mild nail‐pat..:

Francis, David ; Lall, Paula ; Ayres, Samantha...
Clinical Genetics. 105 (2023) 2 - p. 214-219 , 2023

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

5

Australian healthcare professionals' perspectives on geneti..:

Garza, Denisse ; Hildebrand, Michael S. ; Penington, Anthony J...
Journal of Genetic Counseling. 33 (2023) 3 - p. 677-688 , 2023

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

6

College Student Mental Health and Wellbeing Prior to and du..:

McLafferty, Margaret ; Ward, Caoimhe ; Walsh, Colum P....
Education Sciences. 13 (2023) 11 - p. 1154 , 2023

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

7

Systematic Review—Type B Insulin Resistance With Isolated H..:

Brown, Natasha ; Elston, Marianne S
The Journal of Clinical Endocrinology & Metabolism. 109 (2023) 4 - p. 936-943 , 2023

Link: https://doi.org/10.1210/..

8

Endophenotyping social cognition in the broader autism phen..:

Pua, Emmanuel Peng Kiat ; Desai, Tarishi ; Green, Cherie...
Autism Research. , 2023

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

9

Distinct diagnostic trajectories in NBAS‐associated acute l..:

Akesson, Lauren S. ; Rius, Rocio ; Brown, Natasha J....
JIMD Reports. 63 (2022) 3 - p. 240-249 , 2022

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

10

The Mediating Roles of Mental Health and Substance Use on S..:

Brown, Natasha ; McLafferty, Margaret ; O'Neill, Siobhan M....
Journal of Attention Disorders. 26 (2022) 11 - p. 1437-1451 , 2022

Link: https://doi.org/10.1177/..

11

Heterozygous variants inPRPF8are associated with neurodevel..:

O'Grady, Lauren ; Schrier Vergano, Samantha A. ; Hoffman, Trevor L....
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2750-2759 , 2022

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

12

Disorders in sterol metabolism: A case series:

Lee, Joy ; Kiss, Sharmila ; Amor, David J....
Pathology. 54 (2022) - p. S14 , 2022

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

13

Biallelic Variants in PYROXD2 Cause a Severe Infantile Meta..:

Van Bergen, Nicole J. ; Hock, Daniella H. ; Spencer, Lucy...
International Journal of Molecular Sciences. 23 (2022) 2 - p. 986 , 2022

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

14

Inherited variants in CHD3 show variable expressivity in Sn..:

van der Spek, Jet ; den Hoed, Joery ; Snijders Blok, Lot...
Genetics in Medicine. 24 (2022) 6 - p. 1283-1296 , 2022

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

15

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/..