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Shalev, Stavit
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1

Educational tools support informed decision-making for gene..:

Gafni-Amsalem, Chen ; Aboleil-Zoubi, Olfat ; Chervinsky, Elena...
Journal of Community Genetics.  15 (2023)  2 - p. 137-146 , 2023
Link: https://doi.org/10.1007/..
 
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2

The effect of a prior e‐learning tool on genetic counseling..:

Aboleil‐Zoubi, Olfat ; Gafni‐Amsalem, Chen ; Peled‐Perets, Lilach...
Journal of Genetic Counseling.  33 (2023)  3 - p. 666-676 , 2023
Link: https://doi.org/10.1002/..
 
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3

Bi-allelic FRA10AC1 variants in a multisystem human syndrom:

Banka, Siddharth ; Shalev, Stavit ; Park, Soo-Mi...
Brain.  145 (2022)  10 - p. e86-e89 , 2022
Link: https://doi.org/10.1093/..
 
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4

Heterozygous variants in the integrin subunit beta 4 gene (..:

Malovitski, Kiril ; Meijers, Odile ; Cohen-Barak, Eran...
British Journal of Dermatology.  187 (2022)  5 - p. 826-828 , 2022
Link: https://doi.org/10.1111/..
 
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5

The landscape of autosomal recessive variants in an isolate..:

Khayat, Morad ; Danial‐Farran, Nada ; Chervinsky, Elena...
Clinical Genetics.  100 (2021)  5 - p. 522-528 , 2021
Link: https://doi.org/10.1111/..
 
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6

MCM9 is associated with germline predisposition to early-on..:

Goldberg, Yael ; Aleme, Ola ; Peled-Perets, Lilach...
npj Genomic Medicine.  6 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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7

Molecular epidemiology of non‐syndromic autosomal recessive..:

Mohamad, Janan ; Samuelov, Liat ; Malchin, Natalia...
Experimental Dermatology.  30 (2021)  9 - p. 1290-1297 , 2021
Link: https://doi.org/10.1111/..
 
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8

Concomitant variants in NF1, LZTR1 and GNAZ genes probably ..:

Cohen‐Barak, Eran ; Toledano‐Alhadef, Hagit ; Danial‐Farran, Nada...
Experimental Dermatology.  31 (2021)  5 - p. 775-780 , 2021
Link: https://doi.org/10.1111/..
 
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9

An Update on the Cutaneous Manifestations of Darier Disease:

Yeshurun, Algit ; Ziv, Michael ; Cohen-Barak, Eran...
Journal of Cutaneous Medicine and Surgery.  25 (2021)  5 - p. 498-503 , 2021
Link: https://doi.org/10.1177/..
 
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10

Inactivity of Peptidase ClpP Causes Primary Accumulation of..:

Key, Jana ; Torres-Odio, Sylvia ; Bach, Nina C....
Cells.  10 (2021)  12 - p. 3354 , 2021
Link: https://doi.org/10.3390/..
 
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11

An exome‐wide exploration of cases of primary ovarian insuf..:

Alvarez‐Mora, Maria Isabel ; Todeschini, Anne‐Laure ; Caburet, Sandrine...
Clinical Genetics.  98 (2020)  3 - p. 293-298 , 2020
Link: https://doi.org/10.1111/..
 
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12

Homozygote loss-of-function variants in the human COCH gene..:

Danial-Farran, Nada ; Chervinsky, Elena ; Nadar-Ponniah, Prathamesh T...
European Journal of Human Genetics.  29 (2020)  2 - p. 338-342 , 2020
Link: https://doi.org/10.1038/..
 
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13

A missense in HSF2BP causing primary ovarian insufficiency ..:

Felipe-Medina, Natalia ; Caburet, Sandrine ; Sánchez-Sáez, Fernando...
eLife.  9 (2020)  - p. , 2020
Link: https://doi.org/10.7554/..
 
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14

Clinical, radiological, and genetic characteristics of 16 p..:

Sharkia, Rajech ; Wierenga, Klaas J. ; Kessel, Amit...
Journal of Inherited Metabolic Disease.  42 (2019)  2 - p. 264-275 , 2019
Link: https://doi.org/10.1002/..
 
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15

A truncating MEIOB mutation responsible for familial primar..:

Caburet, Sandrine ; Todeschini, Anne-Laure ; Petrillo, Cynthia...
EBioMedicine.  42 (2019)  - p. 524-531 , 2019
Link: https://doi.org/10.1016/..
 
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