E-LIB Suche - Ergebnisse für: Braden, Ruth O.

1

Social motivation a relative strength in DYRK1A syndrome on..:

Morison, Lottie D. ; Braden, Ruth O. ; Amor, David J....
European Journal of Human Genetics. , 2022

2

Clinical delineation of SETBP1 haploinsufficiency disorder:

Jansen, Nadieh A. ; Braden, Ruth O. ; Srivastava, Siddharth...
European Journal of Human Genetics. 29 (2021) 8 - p. 1198-1205 , 2021

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

3

Severe speech impairment is a distinguishing feature of FOX..:

Braden, Ruth O ; Amor, David J ; Fisher, Simon E...
Developmental Medicine & Child Neurology. 63 (2021) 12 - p. 1417-1426 , 2021

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

4

Speech, Language, and Oromotor Skills in Patients With Poly..:

Braden, Ruth O. ; Boyce, Jessica O. ; Stutterd, Chloe A....
Neurology. 96 (2021) 14 - p. , 2021

Link: https://doi.org/10.1212/..

5

Severe childhood speech disorder: Gene discovery highlights..:

Hildebrand, Michael S. ; Jackson, Victoria E. ; Scerri, Thomas S....
Neurology. 94 (2020) 20 - p. , 2020

Link: https://doi.org/10.1212/..

6

Speech and language in bilateral perisylvian polymicrogyria..:

Braden, Ruth O ; Leventer, Richard J ; Jansen, Anna..
Developmental Medicine & Child Neurology. 61 (2019) 10 - p. 1145-1152 , 2019

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

7

Clinical delineation of SETBP1 haploinsufficiency disorder:

Jansen, Nadieh A ; Braden, Ruth O ; Srivastava, Siddharth...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8385049/. , 2021

Link: http://www.ncbi.nlm.nih...

8

Severe childhood speech disorder:Gene discovery highlights ..:

Hildebrand, Michael S ; Jackson, Victoria E ; Scerri, Thomas S...
Hildebrand , M S , Jackson , V E , Scerri , T S , Van Reyk , O , Coleman , M , Braden , R O , Turner , S , Rigbye , K A , Boys , A , Barton , S , Webster , R , Fahey , M , Saunders , K , Parry-Fielder , B , Paxton , G , Hayman , M , Coman , D , Goel , H , Baxter , A , Ma , A , Davis , N , Reilly , S , Delatycki , M , Liégeois , F J , Connelly , A , Gecz , J , Fisher , S E , Amor , D J , Scheffer , I E , Bahlo , M & Morgan , A T 2020 , ' Severe childhood speech disorder : Gene discovery highlights transcriptional dysregulation ' , Neurology , vol. 94 , no. 20 , pp. e2148-e2167 . https://doi.org/10.1212/WNL.0000000000009441. , 2020

Link: https://research.monash...

9

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene:

Nicolas, Aude ; Kenna, Kevin P ; Renton, Alan E...
info:eu-repo/semantics/altIdentifier/pmid/29566793. , 2018

Link: http://hdl.handle.net/10..

10

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene:

Nicolas, Aude ; Kenna, Kevin P ; Renton, Alan E...
info:eu-repo/semantics/altIdentifier/pmid/29566793. , 2018

Link: http://hdl.handle.net/11..

11

Clinician Awareness of Stickler Syndromes Among Australian ..:

Britten-Jones, Alexis Ceecee ; Ayton, Lauren ; Graydon, Kelley...
Journal of Multidisciplinary Healthcare. 17 (2024) - p. 1755-1768 , 2024

Link: https://doi.org/10.2147/..

12

The value of genomic testing in severe childhood speech dis..:

Meng, Yan ; Best, Stephanie ; Amor, David J....
European Journal of Human Genetics. 32 (2024) 4 - p. 440-447 , 2024

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

13

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/..

14

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/..

15

The Genetic and Molecular Basis of Developmental Language D..:

Mountford, Hayley S. ; Braden, Ruth ; Newbury, Dianne F..
Children. 9 (2022) 5 - p. 586 , 2022

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