E-LIB Suche - Ergebnisse für: Barrie, Elizabeth S

1

Mutational Signatures in Solid Tumors:

Barrie, Elizabeth S. ; Wollenzien, Hannah
Advances in Molecular Pathology. 6 (2023) 1 - p. 149-160 , 2023

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

2

Advances in Cell-Free DNA:

Barrie, Elizabeth S. ; Ferreira-Gonzalez, Andrea
Advances in Molecular Pathology. 5 (2022) 1 - p. 141-148 , 2022

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

3

eP450: Effectiveness and utility of noninvasive prenatal sc..:

Catic, Aida ; Turner, Scott ; Ferreira-Gonzalez, Andrea.
Genetics in Medicine. 24 (2022) 3 - p. S282 , 2022

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

4

Systematic evidence-based review: The application of noninv..:

Rose, Nancy C. ; Barrie, Elizabeth S. ; Malinowski, Jennifer...
Genetics in Medicine. 24 (2022) 7 - p. 1379-1391 , 2022

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

5

Systematic evidence-based review: The application of noninv..:

Rose, Nancy C. ; Barrie, Elizabeth S. ; Malinowski, Jennifer...
Genetics in Medicine. 24 (2022) 9 - p. 1992 , 2022

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

6

A rare 2p11.2 microdeletion in an infant with T cell lympho..:

Rafferty, Kelly ; Barrie, Elizabeth S. ; Jackson-Cook, Colleen.
Molecular Genetics and Metabolism. 132 (2021) - p. S240-S241 , 2021

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

7

Trisomy 3 and CBFA2T3-GLIS2 fusion in a child with acute me..:

Catic, Aida ; Barrie, Elizabeth S. ; Turner, Scott...
Molecular Genetics and Metabolism. 132 (2021) - p. S47 , 2021

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

8

Optical genomic mapping reveals balanced and unbalanced cyt..:

Paulraj, Prabakaran ; Barrie, Elizabeth S. ; Jackson-Cook, Colleen
Molecular Genetics and Metabolism. 132 (2021) - p. S252 , 2021

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

9

Expanding the spectrum of CEP55‐associated disease to viabl..:

Barrie, Elizabeth S. ; Overwater, Eline ; van Haelst, Mieke M....
American Journal of Medical Genetics Part A. 182 (2020) 5 - p. 1201-1208 , 2020

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

10

Genotype-phenotype correlation: Inheritance and variant-typ..:

Barrie, Elizabeth S. ; Cottrell, Catherine E. ; Gastier-Foster, Julie...
European Journal of Medical Genetics. 63 (2020) 3 - p. 103735 , 2020

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

11

Contributors:

, In: Neuroscience of Nicotine,

Ables, Jessica L. ; Abreu-Villaça, Yael ; Alberola-Die, Armando... - p. xiii-xvii , 2019

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

12

Mutations inPLS1, encoding fimbrin, cause autosomal dominan..:

Morgan, Anna ; Koboldt, Daniel C. ; Barrie, Elizabeth S....
Human Mutation. 40 (2019) 12 - p. 2286-2295 , 2019

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

13

Nicotine Dependence and the CHRNA5/CHRNA3/CHRNB4 Nicotinic ..:

, In: Neuroscience of Nicotine,

Lee, Sung-Ha ; Barrie, Elizabeth S. ; Sadee, Wolfgang. - p. 347-353 , 2019

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

14

Pericentromeric regions of homozygosity on the X chromosome..:

Barrie, Elizabeth S. ; Li, Yu ; Lamb-Thrush, Devon...
European Journal of Medical Genetics. 61 (2018) 7 - p. 416-420 , 2018

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

15

Alpha‐synuclein mRNA isoform formation and translation affe..:

Barrie, Elizabeth S. ; Lee, Sung‐Ha ; Frater, John T....
Molecular Genetics & Genomic Medicine. 6 (2018) 4 - p. 565-574 , 2018

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