E-LIB Suche - Ergebnisse für: Kennedy, Joanna

1

Stankiewicz-Isidor syndrome: expanding the clinical and mol..:

Isidor, Bertrand ; Ebstein, Frédéric ; Hurst, Anna...
Genetics in Medicine. 24 (2022) 1 - p. 179-191 , 2022

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

2

Biallelic DAW1 variants cause a motile ciliopathy character..:

Leslie, Joseph S. ; Hjeij, Rim ; Vivante, Asaf...
Genetics in Medicine. 24 (2022) 11 - p. 2249-2261 , 2022

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

3

TMEM63C mutations cause mitochondrial morphology defects an..:

Tábara, Luis Carlos ; Al-Salmi, Fatema ; Maroofian, Reza...
Brain. 145 (2022) 9 - p. 3095-3107 , 2022

Link: https://doi.org/10.1093/..

4

ZMYND11variants are a novel cause of centrotemporal and gen..:

Oates, Stephanie ; Absoud, Michael ; Goyal, Sushma...
Clinical Genetics. 100 (2021) 4 - p. 412-429 , 2021

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

5

A biallelic SNIP1 Amish founder variant causes a recognizab..:

Ammous, Zineb ; Rawlins, Lettie E. ; Jones, Hannah...
PLOS Genetics. 17 (2021) 9 - p. e1009803 , 2021

Link: https://doi.org/10.1371/..

6

Correction: KAT6A Syndrome: genotype–phenotype correlation ..:

Kennedy, Joanna ; Goudie, David ; Blair, Edward...
Genetics in Medicine. 22 (2020) 11 - p. 1920 , 2020

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

7

KAT6A Syndrome: genotype–phenotype correlation in 76 patien..:

Kennedy, Joanna ; Goudie, David ; Blair, Edward...
Genetics in Medicine. 21 (2019) 4 - p. 850-860 , 2019

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

8

SET de novo frameshift variants associated with development..:

DDD Study ; Richardson, Ruth ; Splitt, Miranda...
European Journal of Human Genetics. 26 (2018) 9 - p. 1306-1311 , 2018

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

9

Identifying Critical Elements of Treatment: Examining the U..:

Rieth, Sarah R. ; Stahmer, Aubyn C. ; Suhrheinrich, Jessica...
Focus on Autism and Other Developmental Disabilities. 29 (2013) 3 - p. 168-179 , 2013

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

10

The quest for quantitative trait loci associated with intel..:

Plomin, Robert ; Kennedy, Joanna K.J. ; Craig, Ian W.
Intelligence. 34 (2006) 6 - p. 513-526 , 2006

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

11

Generalist genes and cognitive neuroscience:

Butcher, Lee M ; Kennedy, Joanna KJ ; Plomin, Robert
Current Opinion in Neurobiology. 16 (2006) 2 - p. 145-151 , 2006

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

12

Biallelic DAW1 variants cause a motile ciliopathy character..:

Leslie, Joseph S ; Hjeij, Rim ; Vivante, Asaf...
https://pure.au.dk/portal/en/publications/7b4a9a5f-60ea-4e3a-8fe5-6f943101cb02. , 2022

Link: https://pure.au.dk/porta..

13

Biallelic DAW1 variants cause a motile ciliopathy character..:

Leslie, Joseph S ; Hjeij, Rim ; Vivante, Asaf...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10584193/. , 2022

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

14

TMEM63C mutations cause mitochondrial morphology defects an..:

Tábara, Luis Carlos ; Al-Salmi, Fatema ; Maroofian, Reza...
https://www.repository.cam.ac.uk/handle/1810/335811. , 2022

Link: https://www.repository.c..

15

TMEM63C mutations cause mitochondrial morphology defects an..:

Tábara, Luis Carlos ; Al-Salmi, Fatema ; Maroofian, Reza...
https://discovery.ucl.ac.uk/id/eprint/10151035/1/awac123.pdf. , 2022

Link: https://discovery.ucl.ac..