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1 . Academic Journal
Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom
저자
by
Shani Karklinsky
;
Shir Kugler
;
Omer Bar-Yosef
;
Andreea Nissenkorn
;
Anat Grossman-Jonish
, et al.
소스
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-5 (2022)
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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
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)
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7 . Academic Journal
Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene
저자
by
Dina Marek-Yagel
;
Shachar Abudi-Sinreich
;
Michal Macarov
;
Alvit Veber
;
Nechama Shalva
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
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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
Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies
저자
by
Irit Tirosh
;
Shiri Spielman
;
Ortal Barel
;
Reut Ram
;
Tali Stauber
, et al.
소스
Pediatric Rheumatology Online Journal, Vol 17, Iss 1, Pp 1-11 (2019)
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7 . Academic Journal
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature
저자
by
Ben Pode-Shakked
;
Asaf Vivante
;
Ortal Barel
;
Shai Padeh
;
Dina Marek-Yagel
, et al.
소스
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
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7 . Academic Journal
The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency
저자
by
Orna Staretz-Chacham
;
Ben Pode-Shakked
;
Eyal Kristal
;
Smadar Yaala Abraham
;
Keren Porper
, et al.
소스
Nutrients, Vol 13, Iss 10, p 3523 (2021)
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