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Author/Creator Soiferman, Devorah

1. Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. Issue 4 (7th February 2013)

Authors:
Edvardson, Simon; Porcelli, Vito; Jalas, Chaim; Soiferman, Devorah; Kellner, Yuval; Shaag, Avraham; Korman, Stanley H; Pierri, Ciro Leonardo; Scarcia, Pasquale; Fraenkel, Nitay D; Segel, Reeval; Schechter, Abraham; Frumkin, Ayala; Pines, Ophry; Saada, Ann; Palmieri, Luigi; Elpeleg, Orly
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 4(2013)
Page Start:
240
Record Type:
Journal Article
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2. 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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3. Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function. Issue 6 (17th March 2016)

Authors:
Sheffer, Ruth; Douiev, Liza; Edvardson, Simon; Shaag, Avraham; Tamimi, Khaled; Soiferman, Devorah; Meiner, Vardiella; Saada, Ann
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 6(2016)
Page Start:
1603
Record Type:
Journal Article
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