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Author/Creator Lev, Dorit

1. A Possible Genotype-Phenotype Correlation in Ashkenazi-Jewish Individuals With Aicardi-Goutières Syndrome Associated With SAMHD1 Mutation. (March 2015)

Authors:
Straussberg, Rachel; Marom, Daphna; Sanado-Inbar, Esther; Lakovsky, Yaniv; Horev, Gadi; Shalev, Stavit A.; Lev, Dorit; Lerman-Sagie, Tally; Leshinsky-Silver, Esther
Journal:
Journal of child neurology
Issue:
Volume 30:Number 4(2015:Mar.)
Page Start:
490
Record Type:
Journal Article
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2. Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum. Issue 7 (3rd May 2017)

Authors:
Pantaleoni, Francesca; Lev, Dorit; Cirstea, Ion C.; Motta, Marialetizia; Lepri, Francesca Romana; Bottero, Lisabianca; Cecchetti, Serena; Linger, Ilan; Paolacci, Stefano; Flex, Elisabetta; Novelli, Antonio; Carè, Alessandra; Ahmadian, Mohammad R.; Stellacci, Emilia; Tartaglia, Marco
Journal:
Human mutation
Issue:
Volume 38:Issue 7(2017)
Page Start:
798
Record Type:
Journal Article
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3. Abnormal brain magnetic resonance imaging in two patients with Smith–Magenis syndrome. Issue 8 (30th April 2014)

Authors:
Maya, Idit; Vinkler, Chana; Konen, Osnat; Kornreich, Liora; Steinberg, Tamar; Yeshaya, Josepha; Latarowski, Victoria; Shohat, Mordechai; Lev, Dorit; Baris, Hagit N.
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 8(2014.)
Page Start:
1940
Record Type:
Journal Article
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4. Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. (November 2015)

Authors:
Carmi, Nirit; Lev, Dorit; Leshinsky-Silver, Esther; Anikster, Yair; Blumkin, Lubov; Kivity, Sara; Lerman-Sagie, Tally; Zerem, Ayelet
Journal:
European journal of paediatric neurology
Issue:
Volume 19:Number 6(2015:Nov.)
Page Start:
733
Record Type:
Journal Article
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5. Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features. (May 2020)

Authors:
Blumkin, Lubov; Leibovitz, Zvi; Krajden-Haratz, Karina; Arad, Ayala; Yosovich, Keren; Gindes, Liat; Zerem, Ayelet; Ben-Sira, Liat; Lev, Dorit; Nissenkorn, Andrea; Kidron, Dvora; Dobyns, William B.; Malinger, Gustavo; Bahi-Buisson, Nadia; Leventer, Richard J.; Lerman-Sagie, Tally
Journal:
European journal of paediatric neurology
Issue:
Volume 26(2020)
Page Start:
46
Record Type:
Journal Article
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6. Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?. Issue 10 (17th August 2020)

Authors:
Andelman‐Gur, Michal M.; Leventer, Richard J; Hujirat, Mohammad; Ganos, Christos; Yosovich, Keren; Carmi, Nirit; Lev, Dorit; Nissenkorn, Andreea; Dobyns, William B.; Bhatia, Kailash; Lerman‐Sagie, Tally; Blumkin, Lubov
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 10(2020)
Page Start:
2207
Record Type:
Journal Article
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7. Brain white matter abnormalities associated with copy number variants. Issue 1 (17th October 2019)

Authors:
Vigdorovich, Nitzan; Ben‐Sira, Liat; Blumkin, Lubov; Precel, Ronit; Nezer, Ifat; Yosovich, Keren; Cross, Zachary; Vanderver, Adeline; Lev, Dorit; Lerman‐Sagie, Tally; Zerem, Ayelet
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 1(2020)
Page Start:
93
Record Type:
Journal Article
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8. Central 22q11.2 deletions. Issue 11 (14th August 2014)

Authors:
Rump, Patrick; de Leeuw, Nicole; van Essen, Anthonie J.; Verschuuren‐Bemelmans, Corien C.; Veenstra‐Knol, Hermine E.; Swinkels, Mariëlle E.M.; Oostdijk, Wilma; Ruivenkamp, Claudia; Reardon, Willie; de Munnik, Sonja; Ruiter, Mariken; Frumkin, Ayala; Lev, Dorit; Evers, Christina; Sikkema‐Raddatz, B...
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 11(2014.)
Page Start:
2707
Record Type:
Journal Article
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9. Clinical phenotypes of infantile onset CACNA1A-related disorder. (January 2021)

Authors:
Gur-Hartman, Tamar; Berkowitz, Oren; Yosovich, Keren; Roubertie, Agathe; Zanni, Ginevra; Macaya, Alfons; Heimer, Gali; Dueñas, Belén Pérez; Sival, Deborah A.; Pode-Shakked, Ben; López-Laso, Eduardo; Humbertclaude, Véronique; Riant, Florence; Bosco, Luca; Cayron, Lital Bachar; Nissenkorn, Andreea;...
Journal:
European journal of paediatric neurology
Issue:
Volume 30(2021)
Page Start:
144
Record Type:
Journal Article
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