I agree that this site is using cookies. You can find further informations here.
X
Lidzbarsky, Gabriel Arie
24  results:
Search for persons X
?
1

Possible biallelic inheritance in TIE1 in a family with con..:

Abu Shtaya, Aasem ; Sukenik‐Halevy, Rivka ; Bazak, Lily...
Clinical Genetics.  104 (2023)  2 - p. 275-276 , 2023
Link: https://doi.org/10.1111/..
 
?
2

The prevalence of prenatal sonographic findings in postnata..:

Sukenik‐Halevy, Rivka ; Perlman, Sharon ; Ruhrman‐Shahar, Noa...
Prenatal Diagnosis.  42 (2022)  6 - p. 717-724 , 2022
Link: https://doi.org/10.1002/..
 
?
3

When phenotype does not match genotype: importance of "real..:

Basel-Salmon, Lina ; Ruhrman-Shahar, Noa ; Orenstein, Naama...
Genetics in Medicine.  23 (2021)  1 - p. 215-221 , 2021
Link: https://doi.org/10.1038/..
 
?
4

Biallelic variants in ETV2 in a family with congenital hear..:

Basel-Salmon, Lina ; Ruhrman-Shahar, Noa ; Barel, Ortal...
European Journal of Medical Genetics.  64 (2021)  2 - p. 104124 , 2021
Link: https://doi.org/10.1016/..
 
?
5

A nonsense variant in the second exon of the canonical tran..:

Ruhrman‐Shahar, Noa ; Assia Batzir, Nurit ; Lidzbarsky, Gabriel Arie...
American Journal of Medical Genetics Part A.  188 (2021)  1 - p. 369-372 , 2021
Link: https://doi.org/10.1002/..
 
?
6

The prevalence of prenatal sonographic findings in postnata..:

Sukenik‐Halevy, Rivka ; Perlman, Sharon ; Ruhrman‐Shahar, Noa...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303252/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
?
7

High frequency of MEFV disease-causing variants in children..:

Abu Shtaya, Aasem ; Orenstein, Naama ; Bazak, Lily...
Pediatric Research.  , 2024
Link: https://doi.org/10.1038/..
 
?
8

Discovery of a Novel Missense Variant in NLRP3 Causing Atyp..:

Birk‐Bachar, Merav ; Cohen, Hadar ; Sofrin‐Drucker, Efrat...
Arthritis & Rheumatology.  76 (2024)  3 - p. 444-454 , 2024
Link: https://doi.org/10.1002/..
 
?
9

Clinically actionable incidental and secondary parental gen..:

Basel-Salmon, Lina ; Ruhrman-Shahar, Noa ; Orenstein, Naama...
Genetics in Medicine Open.  1 (2023)  1 - p. 100813 , 2023
Link: https://doi.org/10.1016/..
 
?
10

A novel SLC25A13 gene splice site variant causes Citrin def..:

Sachs, Nimrod ; Wechsberg, Oded ; Landau, Yuval E....
Gene.  874 (2023)  - p. 147483 , 2023
Link: https://doi.org/10.1016/..
 
?
11

Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphed..:

Michelson, Marina ; Lidzbarsky, Gabriel ; Nishri, Daniella...
American Journal of Medical Genetics Part A.  188 (2022)  7 - p. 1990-1996 , 2022
Link: https://doi.org/10.1002/..
 
?
12

Di‐genic inheritance of germline POLE and PMS2 pathogenic v..:

Michaeli, Orli ; Ladany, Hagay ; Erez, Ayelet...
Clinical Genetics.  101 (2022)  4 - p. 442-447 , 2022
Link: https://doi.org/10.1111/..
 
?
13

The role of phenotype-based search approaches using public ..:

Fellner, Avi ; Ruhrman-Shahar, Noa ; Orenstein, Naama...
Genetics in Medicine.  23 (2021)  6 - p. 1095-1100 , 2021
Link: https://doi.org/10.1038/..
 
?
14

The diagnostic efficacy of exome data analysis using fixed ..:

Sukenik‐Halevy, Rivka ; Ruhrman‐Shahar, Noa ; Orenstein, Naama...
Prenatal Diagnosis.  41 (2021)  6 - p. 701-707 , 2021
Link: https://doi.org/10.1002/..
 
?
15

Two intronic cis‐acting variants in both alleles of the POL..:

Fellner, Avi ; Lossos, Alexander ; Kogan, Elena...
Clinical Genetics.  99 (2021)  5 - p. 713-718 , 2021
Link: https://doi.org/10.1111/..
 
1-15