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Smirin-Yosef, Pola
22  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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..
 
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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..
 
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