E-LIB Suche - Ergebnisse für: Schmitz-Abe, Klaus

1

Reanalysis of clinical exome identifies the second variant ..:

Li, Qifei ; Agrawal, Rohan ; Schmitz-Abe, Klaus...
European Journal of Human Genetics. 31 (2023) 6 - p. 712-715 , 2023

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

2

An intronic variant in TBX4 in a single family with variabl..:

Flanagan, Frances O. ; Holtz, Alexander M. ; Vargas, Sara O....
npj Genomic Medicine. 8 (2023) 1 - p. , 2023

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

3

Severe allergic dysregulation due to a gain of function mut..:

Baris, Safa ; Benamar, Mehdi ; Chen, Qian...
Journal of Allergy and Clinical Immunology. 152 (2023) 1 - p. 182-194.e7 , 2023

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

4

Atypical Localization of Eczema Discriminates DOCK8 or STAT..:

Kasap, Nurhan ; Kara, Altan ; Celik, Velat...
Journal of Clinical Immunology. 43 (2023) 8 - p. 1882-1890 , 2023

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

5

Primary Upper Extremity Lymphedema Caused by a CELSR1 Varia..:

Sudduth, Christopher L. ; Smits, Patrick J. ; Cheng, Yu Sheng...
Journal of Vascular Anomalies. 3 (2022) 2 - p. e041 , 2022

Link: https://doi.org/10.1097/..

6

Reanalysis of Exome Data Identifies Novel SLC25A46 Variants..:

Li, Qifei ; Madden, Jill A. ; Lin, Jasmine...
Journal of Personalized Medicine. 11 (2021) 12 - p. 1277 , 2021

Link: https://doi.org/10.3390/..

7

A data-driven architecture using natural language processin..:

Parikh, Jignesh R. ; Genetti, Casie A. ; Aykanat, Asli...
Human Genetics and Genomics Advances. 2 (2021) 3 - p. 100035 , 2021

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

8

Author Correction: A regulatory T cell Notch4–GDF15 axis li..:

Harb, Hani ; Stephen-Victor, Emmanuel ; Crestani, Elena...
Nature Immunology. 22 (2021) 6 - p. 794-795 , 2021

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

9

Genetic Study in a Cohort of Children With ROHHAD Syndrome:

Iannello, Grazia ; Sena, Cecilia ; Pais, Lynn...
Journal of the Endocrine Society. 5 (2021) Supplement_1 - p. A503-A504 , 2021

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

10

A homozygous stop-gain variant in ARHGAP42 is associated wi..:

Li, Qifei ; Dibus, Michal ; Casey, Alicia...
PLOS Genetics. 17 (2021) 7 - p. e1009639 , 2021

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

11

Notch4 signaling limits regulatory T-cell-mediated tissue r..:

Harb, Hani ; Benamar, Mehdi ; Lai, Peggy S....
Immunity. 54 (2021) 6 - p. 1186-1199.e7 , 2021

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

12

Homozygous deletions implicate non-coding epigenetic marks ..:

Schmitz-Abe, Klaus ; Sanchez-Schmitz, Guzman ; Doan, Ryan N....
Scientific Reports. 10 (2020) 1 - p. , 2020

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

13

Correction: Dominant-negative mutations in human IL6ST unde..:

Béziat, Vivien ; Tavernier, Simon J. ; Chen, Yin-Huai...
Journal of Experimental Medicine. 217 (2020) 7 - p. , 2020

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

14

Combined immunodeficiency caused by a loss-of-function muta..:

Cui, Ye ; Keles, Sevgi ; Charbonnier, Louis-Marie...
Journal of Allergy and Clinical Immunology. 145 (2020) 1 - p. 391-401.e8 , 2020

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

15

Dominant-negative mutations in human IL6ST underlie hyper-I..:

Béziat, Vivien ; Tavernier, Simon J. ; Chen, Yin-Huai...
Journal of Experimental Medicine. 217 (2020) 6 - p. , 2020

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