E-LIB Suche - Ergebnisse für: Hunter, Jesse M.

1

Biallelic variants in HTRA2 cause 3-methylglutaconic acidur..:

Gurusamy, Umamaheswaran ; Ramadesikan, Swetha ; Marhabaie, Mohammad...
Frontiers in Genetics. 14 (2024) - p. , 2024

2

Clinical Cytogenetics: Current Practices and Beyond:

Mathew, Mariam T ; Babcock, Melanie ; Hou, Ying-Chen Claire...
The Journal of Applied Laboratory Medicine. 9 (2024) 1 - p. 61-75 , 2024

Link: https://doi.org/10.1093/..

3

Exome sequencing in the pediatric neuromuscular clinic lead..:

Meyer, Alayne P. ; Ma, Jianing ; Brock, Guy...
Muscle & Nerve. 68 (2023) 6 - p. 833-840 , 2023

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

4

A Decade's Experience in Pediatric Chromosomal Microarray R..:

Mathew, Mariam T. ; Antoniou, Austin ; Ramesh, Naveen...
The Journal of Molecular Diagnostics. 24 (2022) 9 - p. 1031-1040 , 2022

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

5

A retrospective review of multiple findings in diagnostic e..:

Smith, Erica D. ; Blanco, Kirsten ; Sajan, Samin A....
Genetics in Medicine. 21 (2019) 10 - p. 2199-2207 , 2019

Link: https://doi.org/10.1038/..

6

CAGI SickKids challenges: Assessment of phenotype and varia..:

Kasak, Laura ; Hunter, Jesse M. ; Udani, Rupa...
Human Mutation. 40 (2019) 9 - p. 1373-1391 , 2019

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

7

SLC35A2‐CDG: Functional characterization, expanded molecula..:

Ng, Bobby G. ; Sosicka, Paulina ; Agadi, Satish...
Human Mutation. , 2019

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

8

Exome sequencing in neonates: diagnostic rates, characteris..:

Powis, Zöe ; Farwell Hagman, Kelly D. ; Speare, Virginia...
Genetics in Medicine. 20 (2018) 11 - p. 1468-1471 , 2018

Link: https://doi.org/10.1038/..

9

Functional characterizations of rare UBA1 variants in X-lin..:

Balak, Chris D. ; Hunter, Jesse M. ; Ahearn, Mary E....
F1000Research. 6 (2017) - p. 1636 , 2017

Link: https://doi.org/10.12688..

10

Review of X‐linked syndromes with arthrogryposis or early c..:

Hunter, Jesse M. ; Kiefer, Jeff ; Balak, Christopher D....
American Journal of Medical Genetics Part A. 167 (2015) 5 - p. 931-973 , 2015

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

11

Novel pathogenic variants and genes for myopathies identifi..:

Hunter, Jesse M. ; Ahearn, Mary Ellen ; Balak, Christopher D....
Molecular Genetics & Genomic Medicine. 3 (2015) 4 - p. 283-301 , 2015

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

12

Morphological and Pathological Evolution of the Brain Micro..:

Hunter, Jesse M. ; Kwan, Jason ; Malek-Ahmadi, Michael...
PLoS ONE. 7 (2012) 5 - p. e36893 , 2012

Link: https://doi.org/10.1371/..

13

Emergence of a seizure phenotype in aged apolipoprotein eps..:

Hunter, Jesse M. ; Cirrito, John R. ; Restivo, Jessica L....
Brain Research. 1467 (2012) - p. 120-132 , 2012

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

14

Chemical characterization of pro-inflammatory amyloid-beta ..:

Kokjohn, Tyler A. ; Van Vickle, Gregory D. ; Maarouf, Chera L....
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1812 (2011) 11 - p. 1508-1514 , 2011

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

15

Alzheimer's Disease and Non-Demented High Pathology Control..:

Maarouf, Chera L. ; Daugs, Ian D. ; Kokjohn, Tyler A....
PLoS ONE. 6 (2011) 11 - p. e27291 , 2011

Link: https://doi.org/10.1371/..