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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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 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. 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) ↗
5. Information Women Choose to Receive About Prenatal Chromosomal Microarray Analysis. Issue 1 (January 2020) Authors: Hochner, Hagit; Daum, Hagit; Douiev, Liza; Zvi, Naama; Frumkin, Ayala; Macarov, Michal; Kimchi-Shaal, Adva; Hacohen, Nuphar; Eilat, Avital; Faham, Duha; Shkedi-Rafid, Shiri Journal: Obstetrics and gynecology Issue: Volume 135:Issue 1(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Is fetal isolated double renal collecting system an indication for chromosomal microarray?. (4th March 2021) Authors: Singer, Amihood; Maya, Idit; Frumkin, Ayala; Zeligson, Sharon; Josefsberg, Sagi Ben Yehoshua; Berger, Racheli; Shachar, Shay Ben; Sagi-Dain, Lena Journal: Journal of maternal-fetal & neonatal medicine Issue: Volume 34:Number 5(2021) Page Start: 696 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Isolated fetal horseshoe kidney does not seem to increase the risk for abnormal chromosomal microarray results. (March 2018) Authors: Sagi-Dain, Lena; Maya, Idit; Falik-Zaccai, Tzipora; Feingold-Zadok, Michal; Lev, Dorit; Yonath, Hagit; Kaliner, Ehud; Frumkin, Ayala; Ben Shachar, Shay; Singer, Amihood Journal: European journal of obstetrics, gynecology, and reproductive biology Issue: Volume 222(2018) Page Start: 80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mucolipidosis type IV and the mucolipins. (24th November 2010) Authors: Bach, Gideon; Zeevi, David A.; Frumkin, Ayala; Kogot-Levin, Aviram Journal: Biochemical Society transactions Issue: Volume 38:Number 6(2010) Page Start: 1432 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Non‐confined long‐standing blood chimerism in a spontaneous monochorionic dizygotic twin pregnancy. Issue 3 (26th November 2019) Authors: Daum, Hagit; Frumkin, Ayala; Meiner, Vardiella; Werner, Marion; Macarov, Michal; Gillis, David; Israel, Shoshana; Abed El Latif, Mahmoud; Meir, Karen; Gielchinsky, Yuval Journal: International journal of gynaecology and obstetrics Issue: Volume 148:Issue 3(2020) Page Start: 399 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Postpartum women's attitudes to disclosure of adult‐onset conditions in pregnancy. (4th May 2022) Authors: Libman, Vitalia; Macarov, Michal; Friedlander, Yechiel; Goldman‐Mellor, Sidra; Israel, Salomon; Hochner‐Celnikier, Drorith; Sompolinsky, Yishai; Dior, Uri Pinchas; Osovsky, Michael; Basel‐Salmon, Lina; Wiznitzer, Arnon; Neumark, Yehuda; Meiner, Vardiella; Frumkin, Ayala; Shkedi‐Rafid, Shiri; Hoch... Journal: Prenatal diagnosis Issue: Volume 42:Number 8(2022) Page Start: 1038 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗