1. A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome. Issue 4 (6th July 2021) Authors: Goldenstein, Hagit; Shrem, Sara Beni; Weiss, Omri; Zeligson, Sharon; Segel, Reeval; Mory, Adi; Weiss, Karin Journal: Clinical dysmorphology Issue: Volume 30:Issue 4(2021) Page Start: 181 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome. Issue 4 (October 2021) Authors: Goldenstein, Hagit; Shrem, Sara Beni; Weiss, Omri; Zeligson, Sharon; Segel, Reeval; Mory, Adi; Weiss, Karin Journal: Clinical dysmorphology Issue: Volume 30:Issue 4(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Brain calcifications and PCDH12 variants. (August 2017) Authors: Nicolas, Gaël; Sanchez-Contreras, Monica; Ramos, Eliana Marisa; Lemos, Roberta R.; Ferreira, Joana; Moura, Denis; Sobrido, Maria J.; Richard, Anne-Claire; Lopez, Alma Rosa; Legati, Andrea; Deleuze, Jean-François; Boland, Anne; Quenez, Olivier; Krystkowiak, Pierre; Favrole, Pascal; Geschwind, Dani... Journal: Neurology Issue: Volume 3:Number 4(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Carrier screening for Krabbe disease in an isolated inbred community. Issue 9 (1st July 2022) Authors: Ezer, Shlomit; Zuckerman, Shachar; Segel, Reeval; Zlotogora, Joël Journal: American journal of medical genetics Issue: Volume 188:Issue 9(2022) Page Start: 2555 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies. Issue 6 (December 2018) Authors: Sagi-Dain, Lena; Maya, Idit; Reches, Adi; Frumkin, Ayala; Grinshpun-Cohen, Julia; Segel, Reeval; Manor, Esther; Khayat, Morad; Tenne, Tamar; Banne, Ehud; Shalata, Adel; Yonath, Hagith; Berger, Racheli; Singer, Amihood; Ben-Shachar, Shay Journal: Obstetrics and gynecology Issue: Volume 132:Issue 6(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cold‐sensitive phenotypes of a yeast null mutant of ARV1 support its role as a GPI flippase. Issue 15 (11th June 2020) Authors: Okai, Haruka; Ikema, Ryoko; Nakamura, Hiroki; Kato, Mei; Araki, Misako; Mizuno, Ayumi; Ikeda, Atsuko; Renbaum, Paul; Segel, Reeval; Funato, Kouichi Journal: FEBS letters Issue: Volume 594:Issue 15(2020) Page Start: 2431 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome. Issue 1 (9th March 2022) Authors: Daum, Hagit; Segel, Reeval; Meiner, Vardiella; Goldberg, Yael; Zeligson, Sharon; Weiss, Omri; Stern, Shira; Frumkin, Ayala; Zenvirt, Shamir; Ganz, Gael; Shkedi-Rafid, Shiri Journal: Journal of medical genetics Issue: Volume 60:Issue 1(2023) Page Start: 99 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy. Issue 8 (28th July 2021) Authors: Yechieli, Michal; Gulsuner, Suleyman; Ben-Pazi, Hilla; Fattal, Aviva; Aran, Adi; Kuzminsky, Alla; Sagi, Liora; Guttman, Dafna; Schneebaum Sender, Nira; Gross-Tsur, Varda; Klopstock, Tehila; Walsh, Tom; Renbaum, Paul; Zeligson, Sharon; Shemer Meiri, Lilach; Lev, Dorit; Shmueli, Dorit; Blumkin, Lub... Journal: Journal of medical genetics Issue: Volume 59:Issue 8(2022) Page Start: 759 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Ganglioglioma, Epilepsy, and Intellectual Impairment due to Familial TSC1 Deletion. (June 2018) Authors: Gilboa, Tal; Segel, Reeval; Zeligson, Sharon; Alterescu, Gheona; Ben-Pazi, Hilla Journal: Journal of child neurology Issue: Volume 33:Number 7(2018:Jul.) Page Start: 482 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗