E-LIB Suche - Ergebnisse für: O'Donnell‐Luria, Anne

1

Novel variants in KAT6B spectrum of disorders expand our kn..:

Yabumoto, Megan ; Kianmahd, Jessica ; Singh, Meghna...
qt9ct9z1sm. , 2021

2

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N W ; Shimamura, Akiko...
https://research.manchester.ac.uk/en/publications/15887bad-c921-4439-8afb-db4a9d6b7c42. , 2024

Link: https://research.manches..

3

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N.W ; Shimamura, Akiko...
https://research-information.bris.ac.uk/en/publications/713298c0-e36f-4664-9063-8406743f3374. , 2024

Link: https://hdl.handle.net/1..

4

Digenic inheritance involving a muscle-specific protein kin..:

Töpf, Ana ; Cox, Dan ; Zaharieva, Irina T...
https://discovery.ucl.ac.uk/id/eprint/10188621/1/s41588-023-01651-0.pdf. , 2024

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

5

A gene pathogenicity tool 'GenePy' identifies missed bialle..:

Seaby, Eleanor G ; Leggatt, Gary ; Cheng, Guo...
https://eprints.soton.ac.uk/487423/1/1_s2.0_S1098360024000066_main.pdf. , 2024

Link: https://eprints.soton.ac..

6

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N. W ; Shimamura, Akiko...
10.1016/j.xhgg.2024.100273. , 2024

Link: https://hdl.handle.net/1..

7

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a r..:

Donkervoort, Sandra ; Mohassel, Payam ; OLeary, Melanie...
qt84h8525x. , 2024

Link: https://escholarship.org..

8

Digenic inheritance involving a muscle-specific protein kin..:

Töpf, Ana ; Cox, Dan ; Zaharieva, Irina T...
10.1038/s41588-023-01651-0. , 2024

Link: http://hdl.handle.net/10..

9

Beyond the exome: what's next in diagnostic testing for Men..:

Wojcik, Monica H ; Reuter, Chloe M ; Marwaha, Shruti...
http://arxiv.org/abs/2301.07363. , 2023

Link: http://arxiv.org/abs/230..

10

First-tier next-generation sequencing for newborn screening..:

Sarah L. Stenton ; Madelynn Campagna ; Anthony Philippakis..
http://www.sciencedirect.com/science/article/pii/S2949774423008300. , 2023

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

11

A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Effic..:

Eleanor G. Seaby ; N. Simon Thomas ; David Hunt...
https://www.mdpi.com/2227-9032/11/24/3179. , 2023

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

12

Classical phenylketonuria presenting as maternal PKU syndro..:

Malak Ali Alghamdi ; Anne O'Donnell‐Luria ; Naif A. Almontashiri...
https://doi.org/10.1002/jmd2.12384. , 2023

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

13

P559: Improved classification framework demonstrates many p..:

Moriel Singer-Berk ; Sanna Gudmundsson ; Samantha Baxter...
http://www.sciencedirect.com/science/article/pii/S2949774423006064. , 2023

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

14

P114: Use of population data to empower patient organizatio..:

Samantha Baxter ; Moriel Singer-Berk ; Kathryn Russell...
http://www.sciencedirect.com/science/article/pii/S2949774423001437. , 2023

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

15

P474: Applying the 2022 guidelines for non-coding variant c..:

Emily Groopman ; Moriel Singer-Berk ; Nicola Whiffin...
http://www.sciencedirect.com/science/article/pii/S2949774423005216. , 2023

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