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A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98646-w
By:
- Pode-Shakked, Ben;
- Barel, Ortal;
- Singer, Amihood;
- Regev, Miriam;
- Poran, Hana;
- Eliyahu, Aviva;
- Finezilber, Yael;
- Segev, Meirav;
- Berkenstadt, Michal;
- Yonath, Hagith;
- Reznik-Wolf, Haike;
- Gazit, Yael;
- Chorin, Odelia;
- Heimer, Gali;
- Gabis, Lidia V.;
- Tzadok, Michal;
- Nissenkorn, Andreea;
- Bar-Yosef, Omer;
- Zohar-Dayan, Efrat;
- Ben-Zeev, Bruria
Publication type:
Article
What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?
Published in:
Molecular Syndromology, 2022, v. 13, n. 1, p. 45, doi. 10.1159/000519099
By:
- Liber, Shiri;
- Staretz-Chacham, Orna;
- Kishon, Mor;
- Pode-Shakked, Ben;
- Chorin, Odelia;
- Kneller, Katya;
- Anikster, Yair;
- Mangisto, Geto;
- Saada, Ann;
- Raas-Rothschild, Annick
Publication type:
Article
Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1405
By:
- Chorin, Odelia;
- Yachelevich, Naomi;
- Mohamed, Khaled;
- Moscatelli, Ilana;
- Pappas, John;
- Henriksen, Kim;
- Evrony, Gilad D.
Publication type:
Article
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3262, doi. 10.1002/ajmg.a.62946
By:
- Baker, Elizabeth K.;
- Solivio, Beulah;
- Pode‐Shakked, Ben;
- Cross, Laura Ann;
- Sullivan, Bonnie;
- Raas‐Rothschild, Annick;
- Chorin, Odelia;
- Barel, Ortal;
- Bar‐Yosef, Omer;
- Husami, Ammar;
- Hopkin, Robert J.;
- Prada, Carlos E.;
- Stottmann, Rolf W.;
- Weaver, Kathryn Nicole
Publication type:
Article
Atopic Predilection among Kawasaki Disease Patients: A Cross-Sectional Study of 1,187,757 Teenagers.
Published in:
International Archives of Allergy & Immunology, 2016, v. 170, n. 2, p. 92, doi. 10.1159/000447639
By:
- Hassidim, ayal;
- Merdler, Ilan;
- Chorin, Odelia;
- Merdler-Rabinowicz, Rona;
- Dallal, Ilan;
- Perlman, Maxim;
- Chorin, Ehud
Publication type:
Article
Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome.
Published in:
Pediatric Nephrology, 2021, v. 36, n. 12, p. 4009, doi. 10.1007/s00467-021-05216-3
By:
- Merdler-Rabinowicz, Rona;
- Pode-Shakked, Ben;
- Vivante, Asaf;
- Lahav, Einat;
- Kagan, Maayan;
- Chorin, Odelia;
- Somech, Raz;
- Raas-Rothschild, Annick
Publication type:
Article
Vici syndrome in Israel: Clinical and molecular insights.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.991721
By:
- Chorin, Odelia;
- Hirsch, Yoel;
- Rock, Rachel;
- Sheelo, Liat Salzer;
- Goldberg, Yael;
- Mandel, Hanna;
- Hershkovitz, Tova;
- Fleischer, Nicole;
- Greenbaum, Lior;
- Katz, Uriel;
- Barel, Ortal;
- Hamed, Nasrin;
- Ben-Zeev, Bruria;
- Greenberger, Shoshana;
- Samra, Nadra Nasser;
- Zimmer, Michal Stern;
- Raas-Rothschild, Annick;
- Pode-Shakked, Ben
Publication type:
Article
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Published in:
Frontiers in Genetics, 2023, v. 13, p. 1, doi. 10.3389/fgene.2022.1018062
By:
- Kagan, Maayan;
- Semo-Oz, Rotem;
- Moshe, Yishay Ben;
- Atias-Varon, Danit;
- Tirosh, Irit;
- Stern-Zimmer, Michal;
- Eliyahu, Aviva;
- Raas-Rothschild, Annick;
- Bivas, Maayan;
- Shlomovitz, Omer;
- Chorin, Odelia;
- Rock, Rachel;
- Tzadok, Michal;
- Ben-Zeev, Bruria;
- Heimer, Gali;
- Bolkier, Yoav;
- Gruber, Noah;
- Dagan, Adi;
- El Bar Aluma, Bat;
- Pessach, Itai M.
Publication type:
Article
Adult-onset Alexander disease among patients of Jewish Syrian descent.
Published in:
Neurogenetics, 2023, v. 24, n. 4, p. 303, doi. 10.1007/s10048-023-00732-w
By:
- Anis, Saar;
- Fay-Karmon, Tsvia;
- Lassman, Simon;
- Shbat, Fadi;
- Lesman-Segev, Orit;
- Mor, Nofar;
- Barel, Ortal;
- Dominissini, Dan;
- Chorin, Odelia;
- Pras, Elon;
- Greenbaum, Lior;
- Hassin-Baer, Sharon
Publication type:
Article

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