Zobrazeno 1 - 10 of 21 pro vyhledávání: '"Gidon Akler"'
1
Akademický článek
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
Autor: Ohad Wormser, Yonatan Perez, Vadim Dolgin, Bahman Kamali, Jared A. Tangeman, Libe Gradstein, Yuval Yogev, Noam Hadar, Ofek Freund, Max Drabkin, Daniel Halperin, Inbar Irron, Erika Grajales-Esquivel, Katia Del Rio-Tsonis, Ramon Y. Birnbaum, Gidon Akler, Ohad S. Birk
Publikováno v: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-11 (2023)
Abstract Genomic sequences residing within introns of few genes have been shown to act as enhancers affecting expression of neighboring genes. We studied an autosomal recessive phenotypic continuum of microphthalmia, anophthalmia and ocular coloboma,
Externí odkaz: https://doaj.org/article/a8c8b36507974d6a83c24a422501bd60
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2
Akademický článek
Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients
Autor: Gidon Akler, Ashley H. Birch, Nicole Schreiber‐Agus, Xiaoqiang Cai, Guiqing Cai, Lisong Shi, Chunli Yu, Anastasia M. Larmore, Geetu Mendiratta‐Vij, Lama Elkhoury, Mitchell W. Dillon, Jun Zhu, Andrew S. Mclellan, Funda E. Suer, Bryn D. Webb, Eric E. Schadt, Ruth Kornreich, Lisa Edelmann
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background Next‐generation sequencing (NGS)‐based panels have gained traction as a strategy for reproductive carrier screening. Their value for screening Ashkenazi Jewish (AJ) individuals, who have benefited greatly from population‐wid
Externí odkaz: https://doaj.org/article/6d3ee0c27468471986227a368547920f
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3
Cover
Autor: Gidon Akler, Ashley H. Birch, Nicole Schreiber‐Agus, Xiaoqiang Cai, Guiqing Cai, Lisong Shi, Chunli Yu, Anastasia M. Larmore, Geetu Mendiratta‐Vij, Lama Elkhoury, Mitchell W. Dillon, Jun Zhu, Andrew S. Mclellan, Funda E. Suer, Bryn D. Webb, Eric E. Schadt, Ruth Kornreich, Lisa Edelmann
The cover image is based on the Original Article Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients by Gidon Akler et al., https://doi.org/10.1002/mgg3.1053. [Image: see te
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e283b3feb4366124461802cc7aae1119
https://europepmc.org/articles/PMC7005609/
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4
Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients
Autor: Geetu Mendiratta‐Vij, Xiaoqiang Cai, Lisong Shi, Mitchell W Dillon, Guiqing Cai, Andrew S McLellan, Ashley H. Birch, Funda E. Suer, Anastasia M. Larmore, Lisa Edelmann, Gidon Akler, Eric E. Schadt, Bryn D. Webb, Nicole Schreiber‐Agus, Chunli Yu, Jun Zhu, Lama Elkhoury, Ruth Kornreich
Publikováno v: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Background Next‐generation sequencing (NGS)‐based panels have gained traction as a strategy for reproductive carrier screening. Their value for screening Ashkenazi Jewish (AJ) individuals, who have benefited greatly from population‐wide targete
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2a1b70179958dfb7e378d4953cafdb7
http://europepmc.org/articles/PMC7005669
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6
Characteristics of diabetes after pediatric liver transplant
Autor: Gidon Akler, Robert Rapaport, Genna W. Klein, Nanda Kerkar, Tamir Miloh, Ronen Arnon, Sander Florman, Rachel A. Annunziato, Fenella Greig
Publikováno v: Pediatric Transplantation. 17:27-33
Studies of DALT in pediatric recipients describe incidence and risk factors, but diagnostic criteria varied. This study reports characteristics and course of pediatric DALT by established diabetes criteria. Retrospective chart review of pediatric LT
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1af986562c70f3ecce08b3baba390f06
https://doi.org/10.1111/j.1399-3046.2012.01779.x
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7
Akademický článek
Cover.
Autor: Akler, Gidon (AUTHOR), Birch, Ashley H. (AUTHOR), Schreiber‐Agus, Nicole (AUTHOR), Cai, Xiaoqiang (AUTHOR), Cai, Guiqing (AUTHOR), Shi, Lisong (AUTHOR), Yu, Chunli (AUTHOR), Larmore, Anastasia M. (AUTHOR), Mendiratta‐Vij, Geetu (AUTHOR), Elkhoury, Lama (AUTHOR), Dillon, Mitchell W. (AUTHOR), Zhu, Jun (AUTHOR), Mclellan, Andrew S. (AUTHOR), Suer, Funda E. (AUTHOR), Webb, Bryn D. (AUTHOR), Schadt, Eric E. (AUTHOR), Kornreich, Ruth (AUTHOR), Edelmann, Lisa (AUTHOR)
Publikováno v: Molecular Genetics & Genomic Medicine. Feb2020, Vol. 8 Issue 2, pN.PAG-N.PAG. 1p.
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8
Characteristics of diabetes after pediatric liver transplant
Autor: Fenella, Greig, Robert, Rapaport, Genna, Klein, Gidon, Akler, Rachel, Annunziato, Tamir, Miloh, Ronen, Arnon, Sander, Florman, Nanda, Kerkar
Publikováno v: Pediatric transplantation. 17(1)
Studies of DALT in pediatric recipients describe incidence and risk factors, but diagnostic criteria varied. This study reports characteristics and course of pediatric DALT by established diabetes criteria. Retrospective chart review of pediatric LT
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0da3225548717bd8cf5d1b6489ae6b0a
https://pubmed.ncbi.nlm.nih.gov/23157421
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