E-LIB Suche - Ergebnisse für: Amburgey, Kimberly

1

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/..

2

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/..

3

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/..

4

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/..

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

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

RNAseq Analysis for The Diagnosis of Lissencephaly (911):

Qashqari, Hebah ; Gonorazky, Hernan ; Amburgey, Kimberly...
Neurology. 94 (2020) 15_supplement - p. , 2020

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

13

A natural history study of X-linked myotubular myopathy:

Amburgey, Kimberly ; Tsuchiya, Etsuko ; de Chastonay, Sabine...
Neurology. 89 (2017) 13 - p. 1355-1364 , 2017

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

14

Subacute demyelinating peripheral neuropathy as a novel pre..:

Gonorazky, Hernan D. ; Amburgey, Kimberly ; Yoon, Grace...
Muscle & Nerve. 56 (2017) 5 - p. , 2017

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

15

Neuromuscular conditions associated with malignant hyperthe..:

Bamaga, Ahmed K. ; Riazi, Sheila ; Amburgey, Kimberly...
Neuromuscular Disorders. 26 (2016) 3 - p. 201-206 , 2016

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