E-LIB Suche - Ergebnisse für: Hewson, Stacy

1

Exploring Barriers and Facilitators to Indirect Cascade Scr..:

Dickson, Megan A ; Zahavich, Laura ; Rush, Janet...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10642093/. , 2023

2

Biallelic loss-of-function variants in RABGAP1 cause a nove..:

Oh, Rachel Youjin ; Deshwar, Ashish R ; Marwaha, Ashish...
https://research.rug.nl/en/publications/3c1f6599-bd56-4fb8-8ccc-d7740838bfa8. , 2022

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

3

A cross-sectional study of nemaline myopathy supplementary ..:

Amburgey, Kimberly ; Acker, Meryl ; Saeed, Samia...
https://zenodo.org/communities/dryad. , 2022

Link: https://zenodo.org/recor..

4

Extended Phenotyping and Functional Validation Facilitate D..:

Shao, Zhuo ; Masuho, Ikuo ; Tumber, Anupreet...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8469011/. , 2021

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

5

The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Ca..:

Alsowat, Daad ; Whitney, Robyn ; Hewson, Stacy...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8114745/. , 2021

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

6

A pathogenic UFSP2 variant in an autosomal recessive form o..:

Ni, Min ; Afroze, Bushra ; Xing, Chao...
https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/986. , 2021

Link: https://ecommons.aku.edu..

7

A pathogenic UFSP2 variant in an autosomal recessive form o..:

Ni, Min ; Afroze, Bushra ; Xing, Chao...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8105169/. , 2021

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

8

A Cross-Sectional Study of Nemaline Myopathy:

Amburgey, Kimberly ; Acker, Meryl ; Saeed, Samia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8055318/. , 2021

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

9

Outcomes of patients with cobalamin C deficiency: A single ..:

Bourque, Danielle K ; Mellin‐Sanchez, Lizbeth E ; Bullivant, Garrett...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7802631/. , 2020

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

10

ALU transposition induces familial hypertrophic cardiomyopa..:

Nfonsam, Landry ; Huang, Lijia ; Carson, Nancy...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978237/. , 2019

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

11

Variants in TCF20 in neurodevelopmental disability: descrip..:

Torti, Erin ; Keren, Boris ; Palmer, Elizabeth E...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171701/. , 2019

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

12

Periodic reanalysis of whole-genome sequencing data enhance..:

Costain, Gregory ; Jobling, Rebekah ; Walker, Susan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945683/. , 2018

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

13

Improved diagnostic yield compared with targeted gene seque..:

Lionel, Anath C ; Costain, Gregory ; Monfared, Nasim...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5895460/. , 2018

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

14

Novel recessive mutations in COQ4 cause severe infantile ca..:

Sondheimer, Neal ; Hewson, Stacy ; Cameron, Jessie M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432661/. , 2017

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

15

Whole Genome Sequencing Expands Diagnostic Utility and Impr..:

Stavropoulos, Dimitri J ; Merico, Daniele ; Jobling, Rebekah...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5447450/. , 2016

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