E-LIB Suche - Ergebnisse für: Bloom, Miriam

1

Hodgkin lymphoma in an individual with TREX1‐mediated Aicar..:

Gavazzi, Francesco ; Fraser, Jamie L. ; Bloom, Miriam...
Pediatric Blood & Cancer. 69 (2021) 1 - p. , 2021

2

How do I treat when there is no treatment?:

Regier, Debra S. ; Hallie Andrew, E. ; Bloom, Miriam..
Translational Science of Rare Diseases. 4 (2020) 3-4 - p. 189-195 , 2020

Link: https://doi.org/10.3233/..

3

Mutations in SZT2 result in early‐onset epileptic encephalo..:

Pizzino, Amy ; Whitehead, Matthew ; Sabet Rasekh, Parisa...
American Journal of Medical Genetics Part A. 176 (2018) 6 - p. 1443-1448 , 2018

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

4

Absence of Axoglial Paranodal Junctions in a Child With CNT..:

Conant, Alexander ; Curiel, Julian ; Pizzino, Amy...
Journal of Child Neurology. 33 (2018) 10 - p. 642-650 , 2018

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

5

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts ..:

Ulrick, Nicole ; Goldstein, Amy ; Simons, Cas...
Pediatric Neurology. 66 (2017) - p. 59-62 , 2017

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

6

Revised consensus statement on the preventive and symptomat..:

Adang, Laura A. ; Sherbini, Omar ; Ball, Laura...
Molecular Genetics and Metabolism. 122 (2017) 1-2 - p. 18-32 , 2017

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

7

Corrigendum to "GJC2 promoter mutations causing Pelizaeus–M..:

Gotoh, Leo ; Inoue, Ken ; Helman, Guy...
Molecular Genetics and Metabolism. 119 (2016) 3 - p. 293 , 2016

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

8

Whole exome sequencing in patients with white matter abnorm..:

Vanderver, Adeline ; Simons, Cas ; Helman, Guy...
Annals of Neurology. 79 (2016) 6 - p. 1031-1037 , 2016

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

9

Early onset epileptic encephalopathy and deficient myelinat..:

Helman, Guy ; Simons, Cas ; Griffin, Laurie...
Neurology. 84 (2015) 14_supplement - p. , 2015

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

10

Maternal Uniparental Isodisomy Causing Autosomal Recessive ..:

King, Jessica E. ; Dexter, Amy ; Gadi, Inder...
Journal of Genetic Counseling. 23 (2014) 5 - p. 734-741 , 2014

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

11

GJC2 promoter mutations causing Pelizaeus–Merzbacher-like d..:

Gotoh, Leo ; Inoue, Ken ; Helman, Guy...
Molecular Genetics and Metabolism. 111 (2014) 3 - p. 393-398 , 2014

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

12

Identification of a Novel de Novo p.Phe932Ile KCNT1 Mutatio..:

Vanderver, Adeline ; Simons, Cas ; Schmidt, Johanna L....
Pediatric Neurology. 50 (2014) 1 - p. 112-114 , 2014

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

13

Solving the Unsolved: Targeted Gene Panel Identifies SDH-Re..:

Taylor, John ; Schmidt, Johanna ; Helman, Guy...
Neurology. 80 (2013) 7_supplement - p. , 2013

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

14

Elevation of proinflammatory cytokines in patients with Aic..:

Takanohashi, Asako ; Prust, Morgan ; Wang, Jichuan...
Neurology. 80 (2013) 11 - p. 997-1002 , 2013

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

15

American College of Medical Informatics In Memoriam, 2009–2..:

Bloom, Miriam
Journal of the American Medical Informatics Association. 18 (2011) 4 - p. 530-536 , 2011

Link: https://doi.org/10.1136/..