E-LIB Suche - Ergebnisse für: Baugh, Evan H

1

Whole exome sequencing reveals potentially pathogenic varia..:

Cohen, Adi ; Hostyk, Joseph ; Baugh, Evan H....
Bone. 154 (2022) - p. 116253 , 2022

2

Genetic testing in individuals with cerebral palsy:

May, Halie J ; Fasheun, Jennifer A ; Bain, Jennifer M...
Developmental Medicine & Child Neurology. 63 (2021) 12 - p. 1448-1455 , 2021

Link: https://doi.org/10.1111/..

3

Serine biosynthesis defect due to haploinsufficiency of PHG..:

Eade, Kevin ; Gantner, Marin L. ; Hostyk, Joseph A....
Nature Metabolism. 3 (2021) 3 - p. 366-377 , 2021

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

4

The benefit of diagnostic whole genome sequencing in schizo..:

Alkelai, Anna ; Greenbaum, Lior ; Docherty, Anna R....
Molecular Psychiatry. 27 (2021) 3 - p. 1435-1447 , 2021

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

5

CSNK2B: A broad spectrum of neurodevelopmental disability a..:

Ernst, Michelle E. ; Baugh, Evan H. ; Thomas, Amanda...
Epilepsia. 62 (2021) 7 - p. , 2021

Link: https://doi.org/10.1111/..

6

Truncating variants in the SHANK1 gene are associated with ..:

May, Halie J. ; Jeong, Jaehoon ; Revah-Politi, Anya...
Genetics in Medicine. 23 (2021) 10 - p. 1912-1921 , 2021

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

7

A pathogenic variant in theSETBP1hotspot results in a forme..:

Sullivan, Jennifer A. ; Stong, Nicholas ; Baugh, Evan H....
American Journal of Medical Genetics Part A. 182 (2020) 8 - p. 1947-1951 , 2020

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

8

Pre-detection history of extensively drug-resistant tubercu..:

Brown, Tyler S. ; Challagundla, Lavanya ; Baugh, Evan H....
Proceedings of the National Academy of Sciences of the United States of America. 116 (2019) 46 - p. 23284-23291 , 2019

Link: https://www.jstor.org/st..

9

New insights into tardive dyskinesia genetics: Implementati..:

Alkelai, Anna ; Greenbaum, Lior ; Heinzen, Erin L....
Progress in Neuro-Psychopharmacology and Biological Psychiatry. 94 (2019) - p. 109659 , 2019

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

10

Pre-detection history of extensively drug-resistant tubercu..:

Brown, Tyler S. ; Challagundla, Lavanya ; Baugh, Evan H....
Proceedings of the National Academy of Sciences. 116 (2019) 46 - p. 23284-23291 , 2019

Link: https://doi.org/10.1073/..

11

Somatic SLC35A2 variants in the brain are associated with i..:

Winawer, Melodie R. ; Griffin, Nicole G. ; Samanamud, Jorge...
Annals of Neurology. 83 (2018) 6 - p. 1133-1146 , 2018

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

12

Role of WNT10A in failure of tooth development in humans an..:

Yuan, Qiuping ; Zhao, Min ; Tandon, Bhavna...
Molecular Genetics & Genomic Medicine. 5 (2017) 6 - p. 730-741 , 2017

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

13

Why are there hotspot mutations in the TP53 gene in human c..:

Baugh, Evan H ; Ke, Hua ; Levine, Arnold J..
Cell Death & Differentiation. 25 (2017) 1 - p. 154-160 , 2017

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

14

Robust classification of protein variation using structural..:

Baugh, Evan H. ; Simmons-Edler, Riley ; Müller, Christian L....
Nucleic Acids Research. 44 (2016) 6 - p. 2501-2513 , 2016

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

15

Real-Time PyMOL Visualization for Rosetta and PyRosetta:

Baugh, Evan H. ; Lyskov, Sergey ; Weitzner, Brian D...
PLoS ONE. 6 (2011) 8 - p. e21931 , 2011

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