1. Non-visualization of fetal gallbladder in microarray era – a retrospective cohort study and review of the literature. (18th August 2019) Authors: Sagi-Dain, Lena; Singer, Amihood; Hadid, Yarin; Sharony, Reuven; Vinkler, Chana; Bar-Shira, Anat; Segel, Reeval; Ben Shachar, Shay; Maya, Idit Journal: Journal of maternal-fetal & neonatal medicine Issue: Volume 32:Number 16(2019) Page Start: 2643 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. 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) ↗
4. Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. (24th May 2016) Authors: Aran, Adi; Rosenfeld, Nuphar; Jaron, Ranit; Renbaum, Paul; Zuckerman, Shachar; Fridman, Hila; Zeligson, Sharon; Segel, Reeval; Kohn, Yoav; Kamal, Lara; Kanaan, Moien; Segev, Yoram; Mazaki, Eyal; Rabinowitz, Ron; Shen, Ori; Lee, Ming; Walsh, Tom; King, Mary Claire; Gulsuner, Suleyman; Levy-Lahad, ... Journal: Neurology Issue: Volume 86:Number 21(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. 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) ↗
7. 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) ↗
8. 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) ↗
9. 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) ↗
10. Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy. Issue 9 (15th May 2018) Authors: Langer, Yeshaya; Aran, Adi; Gulsuner, Suleyman; Abu Libdeh, Bassam; Renbaum, Paul; Brunetti, Dario; Teixeira, Pedro-Filipe; Walsh, Tom; Zeligson, Sharon; Ruotolo, Roberta; Beeri, Rachel; Dweikat, Imad; Shahrour, Maher; Weinberg-Shukron, Ariella; Zahdeh, Fouad; Baruffini, Enrico; Glaser, Elzbieta;... Journal: Journal of medical genetics Issue: Volume 55:Issue 9(2018) Page Start: 599 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗