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Ityel, Hadas
14
results:
Search for persons
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Format
Online (14)
Mediatypes
Articles (Online) (3)
OpenAccess-fulltext (11)
Sorted by: Relevance
Sorted by: Year
?
1
A homozygous missense variant in VWA2, encoding an interact..:
van der Ven, Amelie T.
;
Kobbe, Birgit
;
Kohl, Stefan
...
PLOS ONE. 13 (2018) 1 - p. e0191224 , 2018
Link:
https://doi.org/10.1371/..
?
2
Exome sequencing in Jewish and Arab patients with rhabdomyo..:
Vivante, Asaf
;
Ityel, Hadas
;
Pode-Shakked, Ben
...
Pediatric Nephrology. 32 (2017) 12 - p. 2273-2282 , 2017
Link:
https://doi.org/10.1007/..
?
3
A Dominant Negative Heterozygous G87R Mutation in the Zinc ..:
Lasry, Inbal
;
Seo, Young Ah
;
Ityel, Hadas
...
Journal of Biological Chemistry. 287 (2012) 35 - p. 29348-29361 , 2012
Link:
https://doi.org/10.1074/..
?
4
Mutations of the Transcriptional Corepressor ZMYM2 Cause Sy..:
Connaughton, Dervla M
;
Dai, Rufeng
;
Owen, Danielle J
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536580/. , 2020
Link:
http://www.ncbi.nlm.nih...
?
5
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Rec..:
Mann, Nina
;
Kause, Franziska
;
Henze, Erik K
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6904809/. , 2019
Link:
http://www.ncbi.nlm.nih...
?
6
Monogenic causes of chronic kidney disease in adults:
Connaughton, Dervla M
;
Kennedy, Claire
;
Shril, Shirlee
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431580/. , 2019
Link:
http://www.ncbi.nlm.nih...
?
7
Whole-Exome Sequencing Identifies Causative Mutations in Fa..:
van der Ven, Amelie T
;
Connaughton, Dervla M
;
Ityel, Hadas
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115658/. , 2018
Link:
http://www.ncbi.nlm.nih...
?
8
Whole Exome Sequencing of Patients with Steroid-Resistant N..:
Ferguson, Michael A
;
Ozaltin, FATİH
;
Hildebrandt, Friedhelm
...
3d47d3cc-714a-40ec-94b2-2a70e3fe0288. , 2018
Link:
https://doi.org/10.2215/..
?
9
Whole Exome Sequencing of Patients with Steroid-Resistant N..:
Warejko, Jillian K
;
Tan, Weizhen
;
Daga, Ankana
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5753307/. , 2018
Link:
http://www.ncbi.nlm.nih...
?
10
Exome sequencing in Jewish and Arabic patients with rhabdom..:
Vivante, Asaf
;
Ityel, Hadas
;
Pode-Shakked, Ben
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903869/. , 2017
Link:
http://www.ncbi.nlm.nih...
?
11
Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinical..:
van der Ven, Amelie T
;
Shril, Shirlee
;
Ityel, Hadas
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582506/. , 2017
Link:
http://www.ncbi.nlm.nih...
?
12
A Dominant Mutation in Nuclear Receptor Interacting Protein..:
Vivante, Asaf
;
Mann, Nina
;
Yonath, Hagith
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5533226/. , 2017
Link:
http://www.ncbi.nlm.nih...
?
13
A Dominant Negative Heterozygous G87R Mutation in the Zinc ..:
Lasry, Inbal
;
Seo, Young Ah
;
Ityel, Hadas
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3436150. , 2012
Link:
http://www.ncbi.nlm.nih...
?
14
A homozygous missense variant in VWA2, encoding an interact..:
Amelie T van der Ven
;
Birgit Kobbe
;
Stefan Kohl
...
http://europepmc.org/articles/PMC5774751?pdf=render. , 2018
Link:
https://doi.org/10.1371/..
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