E-LIB Suche - Ergebnisse für: Buckley, Michael F.

1

Integration of EpiSign, facial phenotyping, and likelihood ..:

Forwood, Caitlin ; Ashton, Katie ; Zhu, Ying...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193 (2023) 3 - p. , 2023

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

2

The role of perinatal phenotyping in confirming the molecul..:

Al-shinnag, Mohammad ; Forwood, Caitlin ; Walsh, Rebecca...
Pathology. 55 (2023) - p. S41 , 2023

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

3

Biallelic variants in TUBGCP6 result in microcephaly and ch..:

Thomas‐Wilson, Amanda ; Schacht, John P. ; Chitayat, David...
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1935-1941 , 2023

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

4

Dominant-negative variants in CBX1 cause a neurodevelopment..:

Kuroda, Yukiko ; Iwata-Otsubo, Aiko ; Dias, Kerith-Rae...
Genetics in Medicine. 25 (2023) 7 - p. 100861 , 2023

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

5

Standardized practices for RNA diagnostics using clinically..:

Bournazos, Adam M. ; Riley, Lisa G. ; Bommireddipalli, Shobhana...
Genetics in Medicine. 24 (2022) 1 - p. 130-145 , 2022

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

6

Exomes in prenatal testing: an introduction to the pregen s..:

Buckley, Michael F. ; Roscioli, Tony
Pathology. 53 (2021) - p. S10 , 2021

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

7

CDH1 Mutation Distribution and Type Suggests Genetic Differ..:

Selvanathan, Arthavan ; Nixon, Cheng Yee ; Zhu, Ying...
Genes. 11 (2020) 4 - p. 391 , 2020

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

8

Indications and outcomes of rapid turn around time whole ex..:

Buckley, Michael F. ; Elakis, George ; Lang, Sarah...
Pathology. 52 (2020) - p. S29 , 2020

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

9

Front Cover, Volume 40, Issue 10:

Cox, Timothy C. ; Lidral, Andrew C. ; McCoy, Jason C....
Human Mutation. 40 (2019) 10 - p. , 2019

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

10

Fetal diagnosis of Mowat‐Wilson syndrome by whole exome seq..:

Evans, Carey‐Anne ; Pinner, Jason ; Chan, Cheng Y....
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 2152-2157 , 2019

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

11

Reanalysis and optimisation of bioinformatic pipelines is c..:

Cowley, Mark J ; Liu, Yu‐Chi ; Oliver, Karen L....
Human Mutation. 40 (2019) 4 - p. 374-379 , 2019

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

12

Mutations in GDF11 and the extracellular antagonist, Follis..:

Cox, Timothy C. ; Lidral, Andrew C. ; McCoy, Jason C....
Human Mutation. 40 (2019) 10 - p. 1813-1825 , 2019

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

13

Whole-exome sequencing reanalysis at 12 months boosts diagn..:

Ewans, Lisa J. ; Schofield, Deborah ; Shrestha, Rupendra...
Genetics in Medicine. 20 (2018) 12 - p. 1564-1574 , 2018

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

14

Gonadal mosaicism of a novel IQSEC2 variant causing female ..:

Ewans, Lisa J ; Field, Michael ; Zhu, Ying...
European Journal of Human Genetics. 25 (2017) 6 - p. 763-767 , 2017

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

15

Asparagine Synthetase Deficiency causes reduced proliferati..:

Palmer, Elizabeth Emma ; Hayner, Jaclyn ; Sachdev, Rani...
Molecular Genetics and Metabolism. 116 (2015) 3 - p. 178-186 , 2015

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