E-LIB Suche - Ergebnisse für: Bazak, Lily

1

P079: A recurrent POT1 germline variant associated with ear..:

Shtaya, Aasem Abu ; Kedar, Inbal ; Bazak, Lily...
Genetics in Medicine Open. 2 (2024) - p. 100961 , 2024

Link: https://doi.org/10.1016/..

2

A novel RYR1 pathogenic variant − Common among Libyan Jews ..:

Regev, Miriam ; Dori, Amir ; Altarescu, Gheona...
Gene. 927 (2024) - p. 148725 , 2024

Link: https://doi.org/10.1016/..

3

A POT1 Founder Variant Associated with Early Onset Recurren..:

Abu Shtaya, Aasem ; Kedar, Inbal ; Bazak, Lily...
Genes. 15 (2024) 3 - p. 355 , 2024

Link: https://doi.org/10.3390/..

4

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/..

5

Exome sequencing in every pregnancy? Results of trio exome ..:

Levy, Michal ; Lifshitz, Shira ; Goldenberg‐Fumanov, Mirela...
Prenatal Diagnosis. , 2024

Link: https://doi.org/10.1002/..

6

1063 Prenatal Exome in low-risk pregnancies and apparently ..:

Levy, Michal ; Lifshitz, Shira ; Goldenberg-Fumanov, Mirela...
American Journal of Obstetrics and Gynecology. 230 (2024) 1 - p. S558-S559 , 2024

Link: https://doi.org/10.1016/..

7

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/..

8

Potential Founder Variants in COL4A4 Identified in Bukharia..:

Levy, Michal ; Bazak, Lily ; Lev-El, Noa...
Genes. 14 (2023) 10 - p. 1854 , 2023

Link: https://doi.org/10.3390/..

9

Severe early-onset Wilson disease caused by a common pathog..:

Orenstein, Naama ; Glassberg, Yael Mozer ; Shkalim-Zemer, Vered...
Gene. 887 (2023) - p. 147728 , 2023

Link: https://doi.org/10.1016/..

10

Clustered variants in the 5′ coding region of TRA2B cause a..:

Ramond, Francis ; Dalgliesh, Caroline ; Grimmel, Mona...
Genetics in Medicine. 25 (2023) 4 - p. 100003 , 2023

Link: https://doi.org/10.1016/..

11

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/..

12

Community data-driven approach to identify pathogenic found..:

Einhorn, Yaron ; Einhorn, Moshe ; Kurolap, Alina...
Human Genomics. 17 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

13

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/..

14

eP345: Community data-driven approach for generating cross-..:

Einhorn, Yaron ; Einhorn, Moshe ; Yaron, Yuval...
Genetics in Medicine. 24 (2022) 3 - p. S216 , 2022

Link: https://doi.org/10.1016/..

15

Refining the Phenotypic Spectrum of KMT5B-Associated Develo..:

Eliyahu, Aviva ; Barel, Ortal ; Greenbaum, Lior...
Frontiers in Pediatrics. 10 (2022) - p. , 2022

Link: https://doi.org/10.3389/..