E-LIB Suche - Ergebnisse für: Ahn, Joo Wook

1

Recommendations for clinical interpretation of variants fou..:

Ellingford, Jamie M. ; Ahn, Joo Wook ; Bagnall, Richard D....
Genome Medicine. 14 (2022) 1 - p. , 2022

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

2

Automated reanalysis application to assist in detecting nov..:

Mensah, Nana E. ; Sabir, Ataf H. ; Bond, Andrew...
Genetics in Medicine. 24 (2022) 4 - p. 811-820 , 2022

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

3

Recommendations for reporting results of diagnostic genomic..:

Deans, Zandra C. ; Ahn, Joo Wook ; Carreira, Isabel M....
European Journal of Human Genetics. 30 (2022) 9 - p. 1011-1016 , 2022

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

4

A hemizygous mutation in the FOXP3 gene (IPEX syndrome) res..:

Shangaris, Panicos ; Ho, Alison ; Marnerides, Andreas...
BMC Medical Genomics. 14 (2021) 1 - p. , 2021

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

5

A novel non‐invasive prenatal sickle cell disease test for ..:

van Campen, Julia ; Silcock, Lee ; Yau, Shu...
British Journal of Haematology. 190 (2020) 1 - p. 119-124 , 2020

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

6

Duplication of 10q24 locus: broadening the clinical and rad..:

Holder-Espinasse, Muriel ; Jamsheer, Aleksander ; Escande, Fabienne...
European Journal of Human Genetics. 27 (2019) 4 - p. 525-534 , 2019

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

7

Efficient and cost-effective genetic analysis of products o..:

Donaghue, Celia ; Davies, Nada ; Ahn, Joo Wook...
Molecular Cytogenetics. 10 (2017) 1 - p. , 2017

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

8

Ulk4 Regulates Neural Stem Cell Pool:

Liu, Min ; Guan, Zhenlong ; Shen, Qin...
Stem Cells. 34 (2016) 9 - p. 2318-2331 , 2016

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

9

Gestation related karyotype, QF-PCR and CGH-array failure r..:

Lawin O'Brien, Anna ; Dall'Asta, Andrea ; Tapon, Dagmar...
Prenatal Diagnosis. 36 (2016) 8 - p. 708-713 , 2016

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

10

Array Comparative Genomic Hybridization (Array CGH) for Det..

JoVE : Biology

Ahn, Joo Wook ; Coldwell, Michael ; Bint, Susan. , 2015

Link: https://www.jove.com/t/5..

11

Microdeletions ofELP4Are Associated with Language Impairmen..:

Addis, Laura ; Ahn, Joo Wook ; Dobson, Richard...
Human Mutation. 36 (2015) 9 - p. 842-850 , 2015

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

12

CHD2 haploinsufficiency is associated with developmental de..:

Chénier, Sébastien ; Yoon, Grace ; Argiropoulos, Bob...
Journal of Neurodevelopmental Disorders. 6 (2014) 1 - p. , 2014

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

13

Phenotypic features in patients with 15q11.2(BP1‐BP2) delet..:

Cafferkey, Michiala ; Ahn, Joo Wook ; Flinter, Frances.
American Journal of Medical Genetics Part A. 164 (2014) 8 - p. 1916-1922 , 2014

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

14

Array CGH as a first line diagnostic test in place of karyo..:

Ahn, Joo Wook ; Bint, Susan ; Bergbaum, Anne...
Molecular Cytogenetics. 6 (2013) 1 - p. 16 , 2013

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

15

BBGRE: brain and body genetic resource exchange:

Ahn, Joo Wook ; Dixit, Abhishek ; Johnston, Caroline...
Database. 2013 (2013) - p. , 2013

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