E-LIB Suche - Ergebnisse für: Vergano, Samantha A

1

Death associated with brain herniation in classical MSUD pa..:

Leon, Eyby ; Shur, Natasha ; Chapman, Kimberly...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108297 , 2024

2

One Year into the COVID-19 Pandemic: an Update on Medical S..:

Dagher, Tanios ; Alkureishi, Maria A. ; Vayani, Omar R....
Journal of General Internal Medicine. 38 (2022) 1 - p. 273-276 , 2022

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

3

De novo loss-of-function variants in X-linked MED12 are ass..:

Li, Dong ; Strong, Alanna ; Shen, Kaitlyn M....
Genetics in Medicine. 23 (2021) 4 - p. 637-644 , 2021

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

4

Heterozygous variants in PRPF8 are associated with neurodev..:

O'Grady, Lauren ; Sweetser, David ; Gold, Nina...
Molecular Genetics and Metabolism. 132 (2021) - p. S109-S110 , 2021

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

5

Correction: GATAD2B-associated neurodevelopmental disorder ..:

Shieh, Christine ; Jones, Natasha ; Vanle, Brigitte...
Genetics in Medicine. 22 (2020) 4 - p. 822 , 2020

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

6

GATAD2B-associatedneurodevelopmental disorder (GAND): clini..:

Shieh, Christine ; Jones, Natasha ; Vanle, Brigitte...
Genetics in Medicine. 22 (2020) 5 - p. 878-888 , 2020

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

7

Correction: The ARID1B spectrum in 143 patients: from nonsy..:

van der Sluijs, Pleuntje J. ; Jansen, Sandra ; Vergano, Samantha A....
Genetics in Medicine. 21 (2019) 9 - p. 2160-2161 , 2019

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

8

The ARID1B spectrum in 143 patients: from nonsyndromic inte..:

van der Sluijs, Pleuntje J. ; Jansen, Sandra ; Vergano, Samantha A....
Genetics in Medicine. 21 (2019) 6 - p. 1295-1307 , 2019

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

9

Critical Newborn Screens in Double Heterozygotes of Inborn ..:

Langley, Katherine ; Chisholm, Elizabeth ; Spangler, Brooke...
International Journal of Neonatal Screening. 2 (2016) 4 - p. 12 , 2016

Link: https://doi.org/10.3390/..

10

Update on the ACTG1‐associated Baraitser–Winter cerebrofron..:

Di Donato, Nataliya ; Kuechler, Alma ; Vergano, Samantha...
American Journal of Medical Genetics Part A. 170 (2016) 10 - p. 2644-2651 , 2016

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

11

Three Clinical Experiences with SNP Array Results Consisten..:

Helm, Benjamin M. ; Langley, Katherine ; Spangler, Brooke.
Journal of Genetic Counseling. 23 (2013) 4 - p. 489-495 , 2013

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

12

Improving surveillance for hyperammonemia in the newborn:

Vergano, Samantha A. ; Crossette, Jonathan M. ; Cusick, Frederick C....
Molecular Genetics and Metabolism. 110 (2013) 1-2 - p. 102-105 , 2013

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

13

Landscape of mSWI/SNF chromatin remodeling complex perturba..:

Valencia, Alfredo M. ; Sankar, Akshay ; van der Sluijs, Pleuntje J....
Nature Genetics. 55 (2023) 8 - p. 1400-1412 , 2023

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

14

Correction: The CHD4-related syndrome: a comprehensive inve..:

Weiss, Karin ; Lazar, Hayley P. ; Kurolap, Alina...
Genetics in Medicine. 22 (2020) 3 - p. 669 , 2020

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

15

Consensus Building Using Quality Improvement Tools During t..:

, In: Cases on Instructional Design and Performance Outcomes in Medical Education; Advances in Medical Education, Research, and Ethics,

Bridges, Julie A. ; Kannarkat, Mily J. ; Hooper, Brooke... - p. 142-165 , 2020

Link: https://doi.org/10.4018/..