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Smirin-Yosef, Pola
22
results:
Search for persons
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Format
Online (22)
Mediatypes
Articles (Online) (14)
OpenAccess-fulltext (8)
Sorted by: Relevance
Sorted by: Year
?
1
Evaluation of an automated genome interpretation model for ..:
Meng, Linyan
;
Attali, Ruben
;
Talmy, Tomer
...
Genetics in Medicine. 25 (2023) 6 - p. 100830 , 2023
Link:
https://doi.org/10.1016/..
?
2
A study of normal copy number variations in Israeli populat..:
Maya, Idit
;
Smirin-Yosef, Pola
;
Kahana, Sarit
...
Human Genetics. 140 (2020) 3 - p. 553-563 , 2020
Link:
https://doi.org/10.1007/..
?
3
Corrigendum to "X-linked elliptocytosis with impaired growt..:
Basel-Vanagaite, Lina
;
Pillar, Nir
;
Isakov, Ofer
...
Gene. 644 (2018) - p. 155 , 2018
Link:
https://doi.org/10.1016/..
?
4
X-linked elliptocytosis with impaired growth is related to ..:
Basel-Vanagaite, Lina
;
Pillar, Nir
;
Isakov, Ofer
...
Gene. 606 (2017) - p. 47-52 , 2017
Link:
https://doi.org/10.1016/..
?
5
Whole-exome sequencing reveals POC5 as a novel gene associa..:
Weisz Hubshman, Monika
;
Broekman, Sanne
;
van Wijk, Erwin
...
Human Molecular Genetics. 27 (2017) 4 - p. 614-624 , 2017
Link:
https://doi.org/10.1093/..
?
6
A Biallelic Mutation in the Homologous Recombination Repair..:
Smirin-Yosef, Pola
;
Zuckerman-Levin, Nehama
;
Tzur, Shay
...
The Journal of Clinical Endocrinology & Metabolism. 102 (2016) 2 - p. 681-688 , 2016
Link:
https://doi.org/10.1210/..
?
7
A founder mutation in ADAMTSL4 causes early-onset bilateral..:
Reinstein, Eyal
;
Smirin-Yosef, Pola
;
Lagovsky, Irina
...
Molecular Genetics and Metabolism. 117 (2016) 1 - p. 38-41 , 2016
Link:
https://doi.org/10.1016/..
?
8
Lethal neonatal rigidity and multifocal seizure syndrome – ..:
Straussberg, Rachel
;
Ganelin-Cohen, Esther
;
Goldberg-Stern, Hadassah
...
European Journal of Paediatric Neurology. 19 (2015) 2 - p. 240-242 , 2015
Link:
https://doi.org/10.1016/..
?
9
Homozygous MED25 mutation implicated in eye–intellectual di..:
Basel-Vanagaite, Lina
;
Smirin-Yosef, Pola
;
Essakow, Jenna Lee
...
Human Genetics. 134 (2015) 6 - p. 577-587 , 2015
Link:
https://doi.org/10.1007/..
?
10
Homozygous truncating PTPRF mutation causes athelia:
Borck, Guntram
;
de Vries, Liat
;
Wu, Hsin-Jung
...
Human Genetics. 133 (2014) 8 - p. 1041-1047 , 2014
Link:
https://doi.org/10.1007/..
?
11
Exome Sequencing Reveals SYCE1 Mutation Associated With Aut..:
de Vries, Liat
;
Behar, Doron M.
;
Smirin-Yosef, Pola
...
The Journal of Clinical Endocrinology & Metabolism. 99 (2014) 10 - p. E2129-E2132 , 2014
Link:
https://doi.org/10.1210/..
?
12
Microcephaly Thin Corpus Callosum Intellectual Disability S..:
Hellman-Aharony, Shlomit
;
Smirin-Yosef, Pola
;
Halevy, Ayelet
...
Pediatric Neurology. 49 (2013) 6 - p. 411-416.e1 , 2013
Link:
https://doi.org/10.1016/..
?
13
eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links I..:
Borck, Guntram
;
Shin, Byung-Sik
;
Stiller, Barbara
...
Molecular Cell. 48 (2012) 4 - p. 641-646 , 2012
Link:
https://doi.org/10.1016/..
?
14
PEDIA: prioritization of exome data by image analysis:
Hsieh, Tzung-Chien
;
Mensah, Martin A
;
Pantel, Jean T
...
boreal:239308. , 2019
Link:
http://hdl.handle.net/20..
?
15
PEDIA: prioritization of exome data by image analysis:
Hsieh, Tzung-Chien
;
Mensah, Martin A
;
Pantel, Jean T
...
1098-3600. , 2019
Link:
https://resolver.sub.uni..
1-15