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Bazak, Lily
51  results:
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1

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/..
 
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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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

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/..
 
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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/..
 
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