E-LIB Suche - Ergebnisse für: Boztug, K

1

P1531: HETEROGENEITY OF DISEASE-CAUSING GENOTYPES BETWEEN F..:

Jimenez Heredia, R. ; Kager, L. ; Zeitlhofer, P....
HemaSphere. 6 (2022) - p. 1412-1413 , 2022

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

2

P1408: MONOALLELIC AND BIALLELIC GERMLINE MUTATIONS AFFECTI..:

Mayr, D. ; Shahin, T. ; Shoeb, M....
HemaSphere. 6 (2022) - p. 1292-1293 , 2022

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

3

PB2295: EVANS SYNDROME AND PHENOTYPIC HETEROGENEITY OF SASH..:

Berner, J. ; Novak, W. ; Jimenez-Heredia, R...
HemaSphere. 6 (2022) - p. 2165-2166 , 2022

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

4

PB2271: GERMLINE LOSS OF RHOG IDENTIFIES ITS ROLE AS AN ESS..:

Kalinichenko, A. ; Casoni, G. P. ; Dupré, L....
HemaSphere. 6 (2022) - p. 2141-2142 , 2022

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

5

A39 NOVEL GAIN OF FUNCTION NON-RECEPTOR TYROSINE KINASE MUT..:

Muise, A ; Uhlig, H ; Boztug, K...
Journal of the Canadian Association of Gastroenterology. 3 (2020) Supplement_1 - p. 46-48 , 2020

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

6

P842 Aberrant lipid metabolism in patients with DGAT1 defic..:

van Rijn, J M ; Ardy, R C ; Kansu, A...
Journal of Crohn's and Colitis. 12 (2018) supplement_1 - p. S542-S542 , 2018

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

7

P847 IBDomics: systems biology-based analysis of inflammato..:

Pazmandi, J ; Menche, J ; Boztug, K
Journal of Crohn's and Colitis. 12 (2018) supplement_1 - p. S544-S545 , 2018

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

8

Investigation of Genetic Defects in Severe Combined Immunod..:

Erman, B. ; Bilic, I. ; Hirschmugl, T....
Scandinavian Journal of Immunology. 85 (2017) 3 - p. 227-234 , 2017

Link: https://doi.org/10.1111/..

9

G6PC3 mutations are associated with a major defect of glyco..:

Hayee, B. ; Antonopoulos, A. ; Murphy, E. J....
Glycobiology. 21 (2011) 7 - p. 914-924 , 2011

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

10

Early-onset inflammatory bowel disease caused by mutant IL1..:

Glocker, E O ; Kotlarz, D ; Boztug, K...
Journal of Translational Medicine. 8 (2010) S1 - p. , 2010

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

11

A novel clinical syndrome associating severe congenital neu..:

Boztug, K.
La Revue de Médecine Interne. 30 (2009) - p. 8 , 2009

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

12

Hematopoietic stem cell gene therapy for Wiskott Aldrich sy..:

Boztug, K.
La Revue de Médecine Interne. 30 (2009) - p. 2 , 2009

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

13

Early-onset inflammatory bowel disease caused by loss-of-fu..:

Glocker, E ; Kotlarz, D ; Boztug, K...
Inflammatory Bowel Diseases. 15 (2009) - p. S56 , 2009

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

14

Quantitative and qualitative defects of neutrophilic granul..:

Boztug, K. ; Hauck, F.H. ; Wintergerst, U..
Monatsschrift Kinderheilkunde. 157 (2009) 9 - p. 861-869 , 2009

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

15

Multiple independent second-site mutations in two siblings ..:

Boztug, K ; Germeshausen, M ; Avedillo Díez, I...
Clinical Genetics. 74 (2008) 1 - p. 68-74 , 2008

Link: https://doi.org/10.1111/..