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1 . Academic Journal
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
저자
by
Katie L. Ayers
;
Stefanie Eggers
;
Ben N. Rollo
;
Katherine R. Smith
;
Nadia M. Davidson
, et al.
소스
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
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7 . Academic Journal
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders
저자
by
Maayan Kagan
;
Rotem Semo-Oz
;
Yishay Ben Moshe
;
Danit Atias-Varon
;
Irit Tirosh
, et al.
소스
Frontiers in Genetics, Vol 13 (2023)
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7 . Academic Journal
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
저자
by
Katie L. Ayers
;
Stefanie Eggers
;
Ben N. Rollo
;
Katherine R. Smith
;
Nadia M. Davidson
, et al.
소스
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel
저자
by
Eyal Kristal
;
Ben Pode-Shakked
;
Guy Hazan
;
Ehud Banne
;
Galina Ling
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-6 (2021)
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7 . Academic Journal
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
저자
by
Ben Pode-Shakked
;
Ortal Barel
;
Amihood Singer
;
Miriam Regev
;
Hana Poran
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
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7 . Academic Journal
Vici syndrome in Israel: Clinical and molecular insights
저자
by
Odelia Chorin
;
Yoel Hirsch
;
Rachel Rock
;
Liat Salzer Sheelo
;
Yael Goldberg
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
Open Access (DOAJ)
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7 . Academic Journal
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
저자
by
Ulrike Hüffmeier
;
Cornelia Kraus
;
Miriam S. Reuter
;
Steffen Uebe
;
Mary-Alice Abbott
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
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7 . Academic Journal
Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay
저자
by
Aviva Eliyahu
;
Ortal Barel
;
Lior Greenbaum
;
Gal Zaks Hoffer
;
Yael Goldberg
, et al.
소스
Frontiers in Pediatrics, Vol 10 (2022)
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7 . Academic Journal
New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes
저자
by
Sabiha Abekhoukh
;
H. Bahar Sahin
;
Mauro Grossi
;
Samantha Zongaro
;
Thomas Maurin
, et al.
소스
Disease Models & Mechanisms, Vol 10, Iss 4, Pp 463-474 (2017)
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7 . Academic Journal
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families
저자
by
Lior Greenbaum
;
Ben Pode-Shakked
;
Shlomit Eisenberg-Barzilai
;
Michal Dicastro-Keidar
;
Anat Bar-Ziv
, et al.
소스
Frontiers in Genetics, Vol 10 (2019)
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