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Author/Creator Shalev, Stavit A

1. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. Issue 2 (11th November 2015)

Authors:
Spiegel, Ronen; Saada, Ann; Flannery, Padraig J; Burté, Florence; Soiferman, Devorah; Khayat, Morad; Eisner, Verónica; Vladovski, Eugene; Taylor, Robert W; Bindoff, Laurence A; Shaag, Avraham; Mandel, Hanna; Schuler-Furman, Ora; Shalev, Stavit A; Elpeleg, Orly; Yu-Wai-Man, Patrick
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 2(2016)
Page Start:
127
Record Type:
Journal Article
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2. Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. Issue 7 (11th July 2012)

Authors:
Solomon, Benjamin D; Bear, Kelly A; Wyllie, Adrian; Keaton, Amelia A; Dubourg, Christele; David, Veronique; Mercier, Sandra; Odent, Sylvie; Hehr, Ute; Paulussen, Aimee; Clegg, Nancy J; Delgado, Mauricio R; Bale, Sherri J; Lacbawan, Felicitas; Ardinger, Holly H; Aylsworth, Arthur S; Bhengu, Ntombe...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 7(2012)
Page Start:
473
Record Type:
Journal Article
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3. Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. Issue 3 (21st October 2013)

Authors:
Shalev, Stavit A; Tenenbaum‐Rakover, Yardena; Horovitz, Yoseph; Paz, Veronica P; Ye, Honggang; Carmody, David; Highland, Heather M; Boerwinkle, Eric; Hanis, Craig L; Muzny, Donna M; Gibbs, Richard A; Bell, Graeme I; Philipson, Louis H; Greeley, Siri Atma W
Journal:
Pediatric diabetes
Issue:
Volume 15:Issue 3(2014:May)
Page Start:
252
Record Type:
Journal Article
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4. TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. Issue 3 (8th December 2010)

Authors:
Spiegel, Ronen; Khayat, Morad; Shalev, Stavit A; Horovitz, Yoseph; Mandel, Hanna; Hershkovitz, Eli; Barghuti, Flora; Shaag, Avraham; Saada, Ann; Korman, Stanley H; Elpeleg, Orly; Yatsiv, Ido
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 3(2011)
Page Start:
177
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗