E-LIB Suche - Ergebnisse für: Coban‐Akdemir, Zeynep H.

1

Wolff–Parkinson–White syndrome: De novo variants and eviden..:

Coban‐Akdemir, Zeynep H. ; Charng, Wu‐Lin ; Azamian, Mahshid...
American Journal of Medical Genetics Part A. 182 (2020) 6 - p. 1387-1399 , 2020

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

2

Phenotypic expansion of TBX4 mutations to include acinar dy..:

Szafranski, Przemyslaw ; Coban‐Akdemir, Zeynep H. ; Rupps, Rosemarie...
American Journal of Medical Genetics Part A. 170 (2016) 9 - p. 2440-2444 , 2016

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

3

Exome sequencing implicates ancestry-related Mendelian vari..:

Copeland, Ian ; Wonkam-Tingang, Edmond ; Gupta-Malhotra, Monesha...
JCI Insight. 9 (2024) 9 - p. , 2024

Link: https://doi.org/10.1172/..

4

Rare variant enrichment analysis supports GREB1L as a contr..:

Jolly, Angad ; Du, Haowei ; Borel, Christelle...
Human Genetics and Genomics Advances. 4 (2023) 3 - p. 100188 , 2023

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

5

Centers for Mendelian Genomics: A decade of facilitating ge..:

Baxter, Samantha M. ; Posey, Jennifer E. ; Lake, Nicole J....
Genetics in Medicine. 24 (2022) 4 - p. 784-797 , 2022

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

6

Genetic errors of immunity distinguish pediatric nonmaligna..:

Forbes, Lisa R. ; Eckstein, Olive S. ; Gulati, Nitya...
Journal of Allergy and Clinical Immunology. 149 (2022) 2 - p. 758-766 , 2022

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

7

HEM1 deficiency disrupts mTORC2 and F-actin control in inhe..:

Cook, Sarah A. ; Comrie, William A. ; Poli, M. Cecilia...
Science. 369 (2020) 6500 - p. 202-207 , 2020

Link: https://doi.org/10.1126/..

8

De novo variants in FBXO11 cause a syndromic form of intell..:

Jansen, Sandra ; van der Werf, Ilse M. ; Innes, A. Micheil...
European Journal of Human Genetics. 27 (2019) 5 - p. 738-746 , 2019

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

9

A novel disorder involving dyshematopoiesis, inflammation, ..:

Lam, Michael T. ; Coppola, Simona ; Krumbach, Oliver H.F....
Journal of Experimental Medicine. 216 (2019) 12 - p. 2778-2799 , 2019

Link: https://doi.org/10.1084/..

10

Genetic and Mechanistic Diversity in Hemophagocytic Lymphoh..:

Chinn, Ivan K. ; Eckstein, Olive S. ; Peckham-Gregory, Erin C....
Journal of Allergy and Clinical Immunology. 141 (2018) 2 - p. AB19 , 2018

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

11

Novel Combined Immune Deficiency and Radiation Sensitivity ..:

Chinn, Ivan K. ; Sanders, Robert P. ; Stray-Pedersen, Asbjørg...
Frontiers in Immunology. 8 (2017) - p. , 2017

Link: https://doi.org/10.3389/..

12

A diagnostic ceiling for exome sequencing in cerebellar ata..:

Ngo, Kathie J ; Rexach, Jessica E ; Lee, Hane...
qt0t0122d6. , 2020

Link: https://escholarship.org..

13

Biallelic missense variants in COG3 cause a congenital diso..:

Duan, Ruizhi ; Marafi, Dana ; Xia, Zhi‐Jie...
Journal of Inherited Metabolic Disease. 46 (2023) 6 - p. 1195-1205 , 2023

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

14

Quantitative dissection of multilocus pathogenic variation ..:

Herman, Isabella ; Jolly, Angad ; Du, Haowei...
American Journal of Medical Genetics Part A. 188 (2021) 3 - p. 735-750 , 2021

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

15

Rare variant enrichment analysis supports GREB1L as a contr..:

Jolly, Angad ; Du, Haowei ; Borel, Christelle...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10130500/. , 2023

Link: http://www.ncbi.nlm.nih...