E-LIB Suche - Ergebnisse für: Glinton, Kevin

1

P381: Rare mechanisms causing UPD(14)pat and UPD(14)mat:

Waskow, Emily ; Mizerik, Elizabeth ; Owen, Nichole...
Genetics in Medicine Open. 2 (2024) - p. 101275 , 2024

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

2

P015: Screening for disorders of GABA metabolism: Integrati..:

Glinton, Kevin ; Gijavanekar, Charul ; Martin, Kirt...
Genetics in Medicine Open. 1 (2023) 1 - p. 100025 , 2023

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

3

eP117: Natural history study of an international TANGO2 def..:

Ehsan, Saad ; Lay, Erica ; Soler-Alfonso, Claudia...
Genetics in Medicine. 24 (2022) 3 - p. S73 , 2022

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

4

Sudden infant death with dysgenesis of the testes syndrome ..:

Slater, Brady ; Glinton, Kevin ; Dai, Hongzheng...
American Journal of Medical Genetics Part A. 182 (2020) 11 - p. 2751-2754 , 2020

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

5

Review of the phenotypic spectrum associated with haploinsu..:

Rossetti, Linda Z. ; Glinton, Kevin ; Yuan, Bo...
American Journal of Medical Genetics Part A. 179 (2019) 7 - p. 1376-1382 , 2019

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

6

Friedel-Crafts Alkylations of Arenes with Mono- and Bis(tri..:

Olah, George ; Prakash, G. ; Linares-Palomino, Pablo...
Synlett. 2007 (2007) 7 - p. 1158-1162 , 2007

Link: https://doi.org/10.1055/..

7

Solvent Effects on the Aggregation State of Lithium Dialkyl..:

Pratt, Lawrence M. ; Mogali, Sudha ; Glinton, Kevin
The Journal of Organic Chemistry. 68 (2003) 17 - p. 6484-6488 , 2003

Link: https://doi.org/10.1021/..

8

Improving access to exome sequencing in a medically underse..:

Vuocolo, Blake ; German, Ryan J. ; Lalani, Seema R....
Genetics in Medicine. 26 (2024) 6 - p. 101102 , 2024

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

9

PO-04-024 A NOVEL OUTPATIENT TREATMENT STRATEGY FOR VENTRIC..:

Lang, Anna ; Arredondo, Maria J. ; Stephens, Sara...
Heart Rhythm. 21 (2024) 5 - p. S510-S511 , 2024

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

10

De novo variants in FRYL are associated with developmental ..:

Pan, Xueyang ; Tao, Alice M. ; Lu, Shenzhao...
The American Journal of Human Genetics. 111 (2024) 4 - p. 742-760 , 2024

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

11

Epilepsy as a Novel Phenotype of BPTF-Related Disorders:

Ferretti, Alessandro ; Furlan, Margherita ; Glinton, Kevin E....
Pediatric Neurology. 158 (2024) - p. 17-25 , 2024

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

12

Succinic semialdehyde dehydrogenase deficiency: a metabolic..:

Glinton, Kevin E. ; Gijavanekar, Charul ; Rajagopal, Abbhirami...
Frontiers in Genetics. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

13

COMPREHENSIVE SCREENING OF BLOOD-BASED BIOMARKERS IMPROVES ..:

Gijavanekar, Charul ; Glinton, Kevin E. ; Martin, Kirt A....
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107415 , 2023

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

14

Natural history of TANGO2 deficiency disorder: Baseline ass..:

Miyake, Christina Y. ; Lay, Erica J. ; Soler-Alfonso, Claudia...
Genetics in Medicine. 25 (2023) 4 - p. 100352 , 2023

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

15

KCNA1 gain‐of‐function epileptic encephalopathy treated wit..:

Müller, Peter ; Takacs, Danielle S. ; Hedrich, Ulrike B. S....
Annals of Clinical and Translational Neurology. 10 (2023) 4 - p. 656-663 , 2023

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