1. Prenatal observation of nystagmus, cataracts, and brain abnormalities in a case of Zellweger spectrum disorder syndrome. (25th July 2016) Authors: Shen, Ori; Michaelson‐Cohen, Rachel; Gross‐Tsur, Varda; Eilat, Avital; Yanai, Nili; Green, Tamar; Rabinowitz, Ron; Meiner, Vardiella Journal: Prenatal diagnosis Issue: Volume 36:Number 9(2016) Page Start: 894 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing. (8th July 2021) Authors: Wagner, Tova; Fahham, Duha; Frumkin, Ayala; Shaag, Avraham; Yagel, Simcha; Yanai, Nili; Porat, Shay; Mor‐Shaked, Hagar; Meiner, Vardiella; Daum, Hagit Other Names: Van den Veyver Igna guestEditor. Journal: Prenatal diagnosis Issue: Volume 42:Number 7(2022) Page Start: 881 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies. (19th January 2018) Authors: Daum, Hagit; Lerer, Israela; Frumkin, Ayala; Rosenak, Daniel; Yanai, Nili; Porat, Shay; Yagel, Simcha; Meiner, Vardiella Journal: Prenatal diagnosis Issue: Volume 38:Number 2(2018) Page Start: 135 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗