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ABOUT JoVE

Overview Leadership Blog JoVE Help Center

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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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Testimonials Subscriptions Access Resources Library Advisory Board FAQ

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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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Ifat Bar-Joseph

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Frontiers in Pediatrics|April 18, 2022

Refining the Phenotypic Spectrum of <i>KMT5B</i>-Associated Developmental DelayAviva Eliyahu, Ortal Barel, Lior Greenbaum, et al.

American Journal of Human Genetics|November 27, 2012

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesisDanit Oz-Levi, Bruria Ben-Zeev, Elizabeth K Ruzzo, et al.

Scientific Reports|September 28, 2021

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomaliesBen Pode-Shakked, Ortal Barel, Amihood Singer, et al.

Pediatric Nephrology (Berlin, Germany)|January 7, 2022

A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insightsBen Pode-Shakked, Yishay Ben-Moshe, Ortal Barel, et al.

Nature|June 21, 2019

Noncoding deletions reveal a gene that is critical for intestinal functionDanit Oz-Levi, Tsviya Olender, Ifat Bar-Joseph, et al.

Neuron|October 22, 2013

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathyElizabeth K Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, et al.

Pageof 2

Search research articles

Showing results (11-20 of 16) with videos related to

Sort By:

Pageof 2

You have reached the last page of results.This site can display upto 16 results.

Frontiers in Pediatrics|April 18, 2022

Refining the Phenotypic Spectrum of <i>KMT5B</i>-Associated Developmental DelayAviva Eliyahu, Ortal Barel, Lior Greenbaum, et al.

American Journal of Human Genetics|November 27, 2012

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesisDanit Oz-Levi, Bruria Ben-Zeev, Elizabeth K Ruzzo, et al.

Scientific Reports|September 28, 2021

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomaliesBen Pode-Shakked, Ortal Barel, Amihood Singer, et al.

Pediatric Nephrology (Berlin, Germany)|January 7, 2022

A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insightsBen Pode-Shakked, Yishay Ben-Moshe, Ortal Barel, et al.

Nature|June 21, 2019

Noncoding deletions reveal a gene that is critical for intestinal functionDanit Oz-Levi, Tsviya Olender, Ifat Bar-Joseph, et al.

Neuron|October 22, 2013

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathyElizabeth K Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, et al.

Pageof 2