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Ben-Shachar, Shay
532  Ergebnisse:
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1

Variants in SART3 cause a spliceosomopathy characterised by..:

Ayers, Katie L. ; Eggers, Stefanie ; Rollo, Ben N....
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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2

Early Infiltration of Innate Immune Cells to the Liver Depl..:

Goldman, Omer ; Adler, Lital N. ; Hajaj, Emma...
Cancer Discovery.  13 (2023)  7 - p. 1616-1635 , 2023
Link: https://doi.org/10.1158/..
 
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3

Carrier screening program for BRCA1/BRCA2 pathogenic varian..:

Greenberg, Rotem ; Aharonov-Majar, Efrat ; Isakov, Ofer...
Genetics in Medicine Open.  1 (2023)  1 - p. 100824 , 2023
Link: https://doi.org/10.1016/..
 
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4

Author Correction: Variants in SART3 cause a spliceosomopat..:

Ayers, Katie L. ; Eggers, Stefanie ; Rollo, Ben N....
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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5

A rare genotype of biallelic mosaic variants in BCOR gene c..:

Mezad-Koursh, Daphna ; Rosenfeld, Eldar ; Bachar Zipori, Anat...
European Journal of Human Genetics.  31 (2022)  1 - p. 125-127 , 2022
Link: https://doi.org/10.1038/..
 
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6

The Genetic Landscape of Ischemic Stroke in Children - Curr..:

Hausman-Kedem, Moran ; Herring, Rachelle ; Torres, Marcela D...
Seminars in Pediatric Neurology.  44 (2022)  - p. 100999 , 2022
Link: https://doi.org/10.1016/..
 
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7

Ethnicity has a multiplex impact upon the risk of a full mu..:

Domniz, Noam ; Levavi, Liat Ries ; Berkenstadt, Michal...
Genetics in Medicine.  23 (2021)  6 - p. 1023-1027 , 2021
Link: https://doi.org/10.1038/..
 
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8

Evidence for increased breakthrough rates of SARS-CoV-2 var..:

Kustin, Talia ; Harel, Noam ; Finkel, Uriah...
Nature Medicine.  27 (2021)  8 - p. 1379-1384 , 2021
Link: https://doi.org/10.1038/..
 
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9

Deletion in COL4A2 is associated with a three-generation va..:

Hausman-Kedem, Moran ; Ben-Sira, Liat ; Kidron, Debora...
European Journal of Human Genetics.  29 (2021)  11 - p. 1654-1662 , 2021
Link: https://doi.org/10.1038/..
 
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10

Impact of a national population-based carrier-screening pro..:

Aharoni, Sharon ; Nevo, Yoram ; Orenstein, Naama...
Neuromuscular Disorders.  30 (2020)  12 - p. 970-974 , 2020
Link: https://doi.org/10.1016/..
 
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11

Ante-natal counseling in phacomatoses:

Brabbing-Goldstein, Dana ; Ben-Shachar, Shay
Child's Nervous System.  36 (2020)  10 - p. 2269-2277 , 2020
Link: https://doi.org/10.1007/..
 
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12

Chromosomal microarray should be performed for cases of fet..:

Tzadikevitch Geffen, Keren ; Singer, Amihood ; Maya, Idit...
Archives of Gynecology and Obstetrics.  303 (2020)  1 - p. 85-92 , 2020
Link: https://doi.org/10.1007/..
 
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13

The rare 13q33–q34 microdeletions: eight new patients and r..:

Sagi-Dain, Lena ; Goldberg, Yael ; Peleg, Amir...
Human Genetics.  138 (2019)  10 - p. 1145-1153 , 2019
Link: https://doi.org/10.1007/..
 
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14

VPS53 gene is associated with a new phenotype of complicate..:

Hausman-Kedem, Moran ; Ben-Shachar, Shay ; Menascu, Shay...
neurogenetics.  20 (2019)  4 - p. 187-195 , 2019
Link: https://doi.org/10.1007/..
 
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15

In Reply:

Sagi-Dain, Lena ; Maya, Idit ; Singer, Amihood.
Obstetrics & Gynecology.  133 (2019)  4 - p. 828-828 , 2019
Link: https://doi.org/10.1097/..
 
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