E-LIB Suche - Ergebnisse für: Chandler, Natalie

1

169 Curating the fetal genome: experience of the ClinGen pr..:

Galloway, Stephanie ; Giordano, Jessica L. ; Thomas-Wilson, Amanda...
American Journal of Obstetrics and Gynecology. 230 (2024) 1 - p. S106 , 2024

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

2

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/..

3

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/..

4

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/..

5

Likely pathogenic variant in the BICD2 gene in fetus presen..:

Chandler, Natalie ; Brace, Poppy ; Roberts, Rowenna.
Prenatal Diagnosis. 43 (2023) 6 - p. 727-729 , 2023

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

6

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/..

7

Diagnosis of inborn errors of metabolism through prenatal e..:

Allen, Stephanie K. ; Chandler, Natalie J. ; Kinning, Esther...
Prenatal Diagnosis. 44 (2023) 4 - p. 432-442 , 2023

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

8

Monogenic conditions and central nervous system anomalies: ..:

Blayney, Gillian V. ; Laffan, Eoghan ; Jacob, Preethi A....
Prenatal Diagnosis. 44 (2023) 4 - p. 422-431 , 2023

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

9

When should we offer antenatal sequencing for urinary tract..:

Sonner, Sarah ; Reilly, Kelly ; Woolf, Adrian S....
Prenatal Diagnosis. 44 (2023) 2 - p. 187-195 , 2023

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

10

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/..

11

International Society for Prenatal Diagnosis Updated Positi..:

Van den Veyver, Ignatia B. ; Chandler, Natalie ; Wilkins‐Haug, Louise E....
Prenatal Diagnosis. 42 (2022) 6 - p. 796-803 , 2022

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

12

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/..

13

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/..

14

Regulation of sinus node pacemaking and atrioventricular no..:

Boyett, Mark R. ; Yanni, Joseph ; Tellez, James...
Progress in Biophysics and Molecular Biology. 166 (2021) - p. 61-85 , 2021

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

15

The role of sonographic phenotyping in delivering an effici..:

Mellis, Rhiannon ; Chandler, Natalie ; Jenkins, Lucy.
Prenatal Diagnosis. 40 (2020) 7 - p. 785-791 , 2020

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