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1 . Academic Journal
P079: A recurrent POT1 germline variant associated with early onset malignant melanoma, desmoid tumor and other malignancies
저자
by
Aasem Abu Shtaya
;
Inbal Kedar
;
Lily Bazak
;
Lina Basel-Salmon
;
Michal Naftali
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 100961- (2024)
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7 . Academic Journal
P762: Short-read haplotype-assisted genotyping for prenatal screening of monogenic disorders
저자
by
Noa Liscovitch-Brauer
;
Tom Rabinowitz
;
Sapir Bornstein
;
Lilach Schneor
;
Ravit Mesika
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101670- (2024)
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7 . Academic Journal
P766: A combined Bayesian inference and machine-learning approach for prenatal screening by cell free DNA of monogenic disorders
저자
by
Noa Liscovitch-Brauer
;
Ravit Mesika
;
Tom Rabinowitz
;
Hadas Volkov
;
Meitar Grad
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101674- (2024)
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7 . Academic Journal
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels
저자
by
Yaron Einhorn
;
Moshe Einhorn
;
Alina Kurolap
;
Dror Steinberg
;
Adi Mory
, et al.
소스
Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
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7 . Academic Journal
A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies
저자
by
Aasem Abu Shtaya
;
Inbal Kedar
;
Lily Bazak
;
Lina Basel-Salmon
;
Sarit Farage Barhom
, et al.
소스
Genes, Vol 15, Iss 3, p 355 (2024)
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7 . Academic Journal
The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort
저자
by
Aasem Abu Shtaya
;
Inbal Kedar
;
Samar Mattar
;
Ahmad Mahamid
;
Lina Basel-Salmon
, et al.
소스
Cancers, Vol 16, Iss 1, p 94 (2023)
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7 . Academic Journal
Congenital thrombocytopenia associated with a heterozygous variant in the MEIS1 gene encoding a transcription factor essential for megakaryopoiesis
저자
by
Orna Steinberg-Shemer
;
Naama Orenstein
;
Tanya Krasnov
;
Sharon Noy-Lotan
;
Nathaly Marcoux
, et al.
소스
Platelets, Vol 33, Iss 4, Pp 645-648 (2022)
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7 . Academic Journal
Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas
저자
by
Lina Basel-Salmon
;
Noa Ruhrman-Shahar
;
Naama Orenstein
;
Michal Levy
;
Gabriel A. Lidzbarsky
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100813- (2023)
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7 . Academic Journal
In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease
저자
by
Avi Fellner
;
Yael Goldberg
;
Dorit Lev
;
Lina Basel-Salmon
;
Oded Shor
, et al.
소스
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
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7 . Academic Journal
Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome
저자
by
Michal Levy
;
Lily Bazak
;
Noa Lev-El
;
Rotem Greenberg
;
Nesia Kropach
, et al.
소스
Genes, Vol 14, Iss 10, p 1854 (2023)
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