E-LIB Suche - Ergebnisse für: Amburgey, Kimberly

1

The myotubular and centronuclear myopathy patient registry:..:

Bullivant, Joanne ; Sen, Anando ; Page, Jess...
Neuromuscular Disorders. 35 (2024) - p. 42-52 , 2024

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

2

P171: Developing an approach to screening rare genetic diag..:

Cheerie, David ; Lauffer, Marlen ; Beijer, Danique...
Genetics in Medicine Open. 2 (2024) - p. 101068 , 2024

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

3

Evaluation of the diagnostic accuracy of exome sequencing a..:

Hartley, Taila ; Marshall, Deborah ; Acker, Meryl...
Genetics in Medicine. 26 (2024) 2 - p. 101012 , 2024

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

4

A novel deep intronic variant in LAMA2 identified by RNA se..:

Djordjevic, Djurdja ; Alawneh, Issa ; Amburgey, Kimberly...
Neuromuscular Disorders. 39 (2024) - p. 19-23 , 2024

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

5

Biallelic pathogenic variants in the mitochondrial form of ..:

Sondheimer, Neal ; Aleman, Alberto ; Cameron, Jessie...
Human Genetics and Genomics Advances. 4 (2023) 2 - p. 100182 , 2023

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

6

Titin related myopathy with ophthalmoplegia. A novel phenot..:

Alawneh, Issa ; Yuki, Kyoko E. ; Amburgey, Kimberly...
Neuromuscular Disorders. 33 (2023) 7 - p. 605-609 , 2023

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

7

Biallelic pathogenic variants in the mitochondrial form of ..:

Sondheimer, Neal ; Aleman, Alberto ; Cameron, Jessie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9947396/. , 2023

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

8

Biallelic pathogenic variants in the mitochondrial form of ..:

Neal Sondheimer ; Alberto Aleman ; Jessie Cameron...
http://www.sciencedirect.com/science/article/pii/S2666247723000143. , 2023

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

9

PURA syndrome: neuromuscular junction manifestations with p..:

Qashqari, Hebah ; McNiven, Vanda ; Gonorazky, Hernan...
Neuromuscular Disorders. 32 (2022) 10 - p. 842-844 , 2022

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

10

Germline variants in tumor suppressor FBXW7 lead to impaire..:

Stephenson, Sarah E.M ; Costain, Gregory ; Blok, Laura E.R...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9069070/. , 2022

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

11

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..

12

A Cross-Sectional Study of Nemaline Myopathy:

Amburgey, Kimberly ; Acker, Meryl ; Saeed, Samia...
Neurology. 96 (2021) 10 - p. , 2021

Link: https://doi.org/10.1212/..

13

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

Alsowat, Daad ; Whitney, Robyn ; Hewson, Stacy...
Child Neurology Open. 8 (2021) - p. 2329048X2110128 , 2021

Link: https://doi.org/10.1177/..

14

Leveraging Natural History Data in One- and Two-Arm Hierarc..:

Monseur, Arnaud ; Carlin, Bradley P. ; Boulanger, Bruno...
Statistics in Biosciences. 14 (2021) 2 - p. 237-258 , 2021

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

15

Child Neurology: RNA Sequencing for the Diagnosis of Lissen..:

Qashqari, Hebah ; Ramani, Arun ; Gonorazky, Hernan...
Neurology. 97 (2021) 12 - p. , 2021

Link: https://doi.org/10.1212/..