E-LIB Suche - Ergebnisse für: Tenney, Jessica

1

P444: Novel RET variant in two unrelated patients with Hirs..:

Turedi, Ozlem ; Tenney, Jessica ; Britton, Jacquelyn...
Genetics in Medicine Open. 2 (2024) - p. 101338 , 2024

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

2

Neuropathy target esterase activity defines phenotypes amon..:

Liu, James ; He, Yi ; Lwin, Cara...
Brain. 147 (2024) 6 - p. 2085-2097 , 2024

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

3

Utility of genetic work-up for 46, XY patients with severe ..:

Srivastava, Priya ; Tenney, Jessica ; Lodish, Maya..
Journal of Pediatric Urology. 19 (2023) 3 - p. 261-272 , 2023

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

4

Author Correction: Diagnostic yield of pediatric and prenat..:

Slavotinek, Anne ; Rego, Shannon ; Sahin-Hodoglugil, Nuriye...
npj Genomic Medicine. 8 (2023) 1 - p. , 2023

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

5

Diagnostic yield of pediatric and prenatal exome sequencing..:

Slavotinek, Anne ; Rego, Shannon ; Sahin-Hodoglugil, Nuriye...
npj Genomic Medicine. 8 (2023) 1 - p. , 2023

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

6

TRAPPC9‐related neurodevelopmental disorder: Report of a ho..:

Penon‐Portmann, Monica ; Hodoglugil, Ugur ; Arun P, Wiita...
American Journal of Medical Genetics Part A. 191 (2022) 4 - p. 1077-1082 , 2022

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

7

Recurrent de novo missense variants across multiple histone..:

Tessadori, Federico ; Duran, Karen ; Knapp, Karen...
The American Journal of Human Genetics. 109 (2022) 4 - p. 750-758 , 2022

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

8

Application of full-genome analysis to diagnose rare monoge..:

Shieh, Joseph T. ; Penon-Portmann, Monica ; Wong, Karen H. Y....
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

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

9

Publisher Correction: Application of full-genome analysis t..:

Shieh, Joseph T. ; Penon-Portmann, Monica ; Wong, Karen H. Y....
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

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

10

MON-268 A Rare Case of Primary Hypoaldosteronism in a Newbo..:

Mody, Armaiti ; Lee, Janet ; Tenney, Jessica.
Journal of the Endocrine Society. 3 (2019) Supplement_1 - p. , 2019

Link: https://doi.org/10.1210/..

11

NRP1 haploinsufficiency predisposes to the development of T..:

Duran, Ivan ; Tenney, Jessica ; Warren, Carmen M....
American Journal of Medical Genetics Part A. 176 (2018) 3 - p. 649-656 , 2018

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

12

Correction: Altered mRNA Splicing, Chondrocyte Gene Express..:

Marques, Felipe ; Tenney, Jessica ; Duran, Ivan...
PLOS Genetics. 12 (2016) 12 - p. e1006502 , 2016

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

13

Microdeletion of ZBTB20 Results in a Phenotype Overlapping ..:

Mulatinho, Milene ; Tenney, Jessica ; Vilain, Eric.
Cancer Genetics. 209 (2016) 5 - p. 244-245 , 2016

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

14

Altered mRNA Splicing, Chondrocyte Gene Expression and Abno..:

Marques, Felipe ; Tenney, Jessica ; Duran, Ivan...
PLOS Genetics. 12 (2016) 9 - p. e1006307 , 2016

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

15

CUX1-related neurodevelopmental disorder:deep insights into..:

Oppermann, Henry ; Marcos-Grañeda, Elia ; Weiss, Linnea A...
https://portal.findresearcher.sdu.dk/da/publications/aa171641-9049-44ce-a58b-3ccc6d707efe. , 2023

Link: https://portal.findresea..