E-LIB Suche - Ergebnisse für: Margraf, Rebecca L

1

Caffeine, Lorazepam, and Morphine Use in Neonatal Intensive..:

Falekun, Seyi ; Mankouski, Anastasiya ; Solorzano, Chelsea...
American Journal of Clinical Pathology. 160 (2023) Supplement_1 - p. S124-S124 , 2023

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

2

CXXC5 variant in an immunodeficient patient with a progress..:

Joshi, Hemant R. ; Hill, Harry R. ; Asch, Julie...
Journal of Allergy and Clinical Immunology. 147 (2021) 4 - p. 1504-1507.e8 , 2021

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

3

NF1 Somatic Mutation in Dystrophic Scoliosis:

Margraf, Rebecca L. ; VanSant-Webb, Chad ; Mao, Rong...
Journal of Molecular Neuroscience. 68 (2019) 1 - p. 11-18 , 2019

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

4

P119 Quantifying donor-derived cell-free dna in blood and u..:

Profaizer, Tracie ; Margraf, Rebecca L. ; Kumanovics, Attila L..
Human Immunology. 80 (2019) - p. 144 , 2019

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

5

P113 Developing an assay to detect and quantify donor-deriv..:

Profaizer, Tracie ; Margraf, Rebecca ; Delgado, Julio..
Human Immunology. 79 (2018) - p. 146 , 2018

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

6

NovelPLP1Mutations Identified With Next-Generation Sequenci..:

Margraf, Rebecca L. ; Durtschi, Jacob ; Krock, Bryan...
Child Neurology Open. 5 (2018) - p. 2329048X1878928 , 2018

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

7

Genetic Variants Associated with Port-Wine Stains:

Frigerio, Alice ; Wright, Karol ; Wooderchak-Donahue, Whitney...
PLOS ONE. 10 (2015) 7 - p. e0133158 , 2015

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

8

A unified test of linkage analysis and rare-variant associa..:

Hu, Hao ; Roach, Jared C ; Coon, Hilary...
Nature Biotechnology. 32 (2014) 7 - p. 663-669 , 2014

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

9

Phevor Combines Multiple Biomedical Ontologies for Accurate..:

Singleton, Marc V. ; Guthery, Stephen L. ; Voelkerding, Karl V....
The American Journal of Human Genetics. 94 (2014) 4 - p. 599-610 , 2014

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

10

Neurofibromin Deficiency-Associated Transcriptional Dysregu..:

Paria, Nandina ; Cho, Tae-Joon ; Choi, In Ho...
Journal of Bone and Mineral Research. 29 (2014) 12 - p. 2636-2642 , 2014

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

11

TACI mutation p.Lys154Ter identified in Good Syndrome:

Margraf, Rebecca L. ; Coonrod, Emily M. ; Durtschi, Jacob D....
Clinical Immunology. 146 (2013) 1 - p. 10-12 , 2013

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

12

A novel germline PIGA mutation in Ferro‐Cerebro‐Cutaneous s..:

Swoboda, Kathryn J. ; Margraf, Rebecca L. ; Carey, John C....
American Journal of Medical Genetics Part A. 164 (2013) 1 - p. 17-28 , 2013

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

13

VarBin, a novel method for classifying true and false posit..:

Durtschi, Jacob ; Margraf, Rebecca L ; Coonrod, Emily M..
BMC Bioinformatics. 14 (2013) S13 - p. , 2013

Link: https://doi.org/10.1186/..

14

Novel p.C620L RET Mutation Detected in a Patient with Medul..:

Margraf, Rebecca L. ; Krautscheid, Patti M. F. ; Pattison, David C...
International Journal of Clinical Medicine. 3 (2012) 6 - p. 498-501 , 2012

Link: https://doi.org/10.4236/..

15

Predicting Phenotypic Severity of Uncertain Gene Variants i..:

Crockett, David K. ; Piccolo, Stephen R. ; Ridge, Perry G....
PLoS ONE. 6 (2011) 3 - p. e18380 , 2011

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