E-LIB Suche - Ergebnisse für: Scotchman, Elizabeth

1

Expanding Access to Noninvasive Prenatal Diagnosis for Mono..:

Hanson, Britt ; Shaw, Joe ; Povarnitsyn, Nikita...
Clinical Chemistry. 70 (2024) 5 - p. 727-736 , 2024

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

2

Evaluation of the feasibility, diagnostic yield, and clinic..:

D'Gama, Alissa M ; Mulhern, Sarah ; Sheidley, Beth R...
The Lancet Neurology. 22 (2023) 9 - p. 812-825 , 2023

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

3

Enhanced mitochondrial genome analysis: bioinformatic and l..:

Macken, William L. ; Falabella, Micol ; Pizzamiglio, Chiara...
Expert Review of Molecular Diagnostics. 23 (2023) 9 - p. 797-814 , 2023

Link: https://doi.org/10.1080/..

4

Non‐invasive fetal genotyping for maternal alleles with dro..:

Shaw, Joe ; Scotchman, Elizabeth ; Paternoster, Ben...
Prenatal Diagnosis. 43 (2023) 4 - p. 477-488 , 2023

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

5

Developing and Delivering a Clinical Service for the Non-in..:

, In: Prenatal Diagnostic Testing for Genetic Disorders,

Scotchman, Elizabeth ; Shaw, Joseph ; Chandler, Natalie. - p. 305-319 , 2023

Link: https://doi.org/10.1007/..

6

Lessons learnt from prenatal exome sequencing:

Chandler, Natalie J. ; Scotchman, Elizabeth ; Mellis, Rhiannon...
Prenatal Diagnosis. 42 (2022) 7 - p. 831-844 , 2022

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

7

Non-invasive prenatal diagnosis (NIPD): how analysis of cel..:

Hanson, Britt ; Scotchman, Elizabeth ; Chitty, Lyn S..
Clinical Science. 136 (2022) 22 - p. 1615-1629 , 2022

Link: https://doi.org/10.1042/..

8

Diagnostic yield of exome sequencing for prenatal diagnosis..:

Mellis, Rhiannon ; Oprych, Kathryn ; Scotchman, Elizabeth..
Prenatal Diagnosis. 42 (2022) 6 - p. 662-685 , 2022

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

9

Identification of mutants with increased variation in cell ..:

Scotchman, Elizabeth ; Kume, Kazunori ; Navarro, Francisco J..
Journal of Cell Science. 134 (2021) 3 - p. , 2021

Link: https://doi.org/10.1242/..

10

Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The..:

Scotchman, Elizabeth ; Chandler, Natalie J ; Mellis, Rhiannon.
Clinical Chemistry. 66 (2019) 1 - p. 53-60 , 2019

Link: https://doi.org/10.1373/..

11

Evaluation of the feasibility, diagnostic yield, and clinic..:

D'Gama, Alissa M ; Mulhern, Sarah ; Sheidley, Beth R...
https://discovery.ucl.ac.uk/id/eprint/10175582/1/McTague_Evaluation%20of%20the%20feasibility,%20diagnostic%20yield,%20and%20clinical%20utility%20of%20rapid%20genome%20sequencing%20in%20infantile%20epilepsy_VoR.pdf. , 2023

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

12

Non-invasive prenatal diagnosis (NIPD): how analysis of cel..:

Hanson, Britt ; Scotchman, Elizabeth ; Chitty, Lyn S.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9670272/. , 2022

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

13

Diagnostic yield of exome sequencing for prenatal diagnosis..:

Mellis, Rhiannon ; Oprych, Kathryn ; Scotchman, Elizabeth..
https://discovery.ucl.ac.uk/id/eprint/10143965/7/Mellis_Prenatal%20Diagnosis%20-%202022%20-%20Mellis%20-%20Diagnostic%20yield%20of%20exome%20sequencing%20for%20prenatal%20diagnosis%20of%20fetal%20structural.pdf. , 2022

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

14

Lessons learnt from prenatal exome sequencing:

Chandler, Natalie J ; Scotchman, Elizabeth ; Mellis, Rhiannon...
https://discovery.ucl.ac.uk/id/eprint/10148638/1/Mellis_Lessons%20learnt%20from%20prenatal%20exome%20sequencing_AOP.pdf. , 2022

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