E-LIB Suche - Ergebnisse für: Josephs, Katherine S.

1

Toward robust clinical genome interpretation: Developing a ..:

Roberts, Angharad M. ; DiStefano, Marina T. ; Riggs, Erin Rooney...
Genetics in Medicine. 26 (2024) 2 - p. 101029 , 2024

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

2

Beyond gene-disease validity: capturing structured data on ..:

Josephs, Katherine S. ; Roberts, Angharad M. ; Theotokis, Pantazis...
Genome Medicine. 15 (2023) 1 - p. , 2023

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

3

Correction: Janus-faced EPHB4-associated disorders: novel p..:

Martin-Almedina, Silvia ; Ogmen, Kazim ; Sackey, Ege...
Genetics in Medicine. 23 (2021) 7 - p. 1376-1377 , 2021

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

4

Redefining WILD syndrome: a primary lymphatic dysplasia wit..:

Mansour, Sahar ; Josephs, Katherine S ; Ostergaard, Pia...
Journal of Medical Genetics. 60 (2021) 1 - p. 84-90 , 2021

Link: https://doi.org/10.1136/..

5

Janus-faced EPHB4-associated disorders: novel pathogenic va..:

Martin-Almedina, Silvia ; Ogmen, Kazim ; Sackey, Ege...
Genetics in Medicine. 23 (2021) 7 - p. 1315-1324 , 2021

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

6

Refinement of the clinical and mutational spectrum ofUBE2Ad..:

Cordeddu, Viviana ; Macke, Erica L. ; Radio, Francesca Clementina...
Clinical Genetics. 98 (2020) 2 - p. 172-178 , 2020

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

7

Genomics: the power, potential and pitfalls of the new tech..:

Josephs, Katherine S ; Berner, Alison ; George, Angela...
Clinical Medicine. 19 (2019) 4 - p. 269-272 , 2019

Link: https://doi.org/10.7861/..

8

Redefining WILD syndrome: a primary lymphatic dysplasia wit..:

Mansour, Sahar ; Josephs, Katherine S ; Ostergaard, Pia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9811088/. , 2023

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

9

Beyond gene-disease validity: capturing structured data on ..:

Josephs, Katherine S ; Roberts, Angharad M ; Theotokis, Pantazis...
https://boris.unibe.ch/187397/. , 2023

Link: https://boris.unibe.ch/1..

10

Beyond gene-disease validity: capturing structured data on ..:

Josephs, Katherine S ; Roberts, Angharad M ; Theotokis, Pantazis...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10594882/. , 2023

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

11

Beyond gene-disease validity: capturing structured data on ..:

Josephs, Katherine S ; Roberts, Angharad M ; Theotokis, Pantazis...
https://discovery.ucl.ac.uk/id/eprint/10180058/1/s13073-023-01246-8.pdf. , 2023

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

12

Results from London Regional Clinical Genetics services ove..:

Garrett, Alice ; Talukdar, Sabrina ; Izatt, Louise...
0022-2593. ,

Link: http://hdl.handle.net/18..

13

Correspondence on "ACMG SF v3.0 list for reporting of secon..:

McGurk, Kathryn A. ; Zheng, Sean L. ; Henry, Albert...
Genetics in Medicine. 24 (2022) 3 - p. 744-746 , 2022

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

14

Beyond gene-disease validity: capturing structured data on ..:

Katherine S. Josephs ; Angharad M. Roberts ; Pantazis Theotokis...
https://doi.org/10.1186/s13073-023-01246-8. , 2023

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

15

Correspondence on ACMG STATEMENT: ACMG SF v3.0 list for rep..:

McGurk, Kathryn A ; Zheng, Sean L ; Henry, Albert...
http://arxiv.org/abs/2203.04684. , 2022

Link: http://arxiv.org/abs/220..