1. A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis. Issue 8 (9th May 2016) Authors: Reish, Orit; Aspit, Liam; Zouella, Arielle; Roth, Yehudah; Polak‐Charcon, Sylvie; Baboushkin, Tatiana; Benyamini, Lilach; Scheetz, Todd E.; Mussaffi, Huda; Sheffield, Val C.; Parvari, Ruti Journal: Human mutation Issue: Volume 37:Issue 8(2016) Page Start: 727 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity. Issue 4 (13th January 2021) Authors: Faingelernt, Yaniv; Hershkovitz, Eli; Abu‐Libdeh, Bassam; Abedrabbo, Amal; Abu‐Rmaileh Amro, Sara; Zarivach, Raz; Zangen, David; Lavi, Eran; Haim, Alon; Parvari, Ruti; Abu‐Libdeh, Abdulsalam Journal: American journal of medical genetics Issue: Volume 185:Issue 4(2021) Page Start: 1033 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy. Issue 4 (5th December 2018) Authors: Aspit, Liam; Levitas, Aviva; Etzion, Sharon; Krymko, Hanna; Slanovic, Leonel; Zarivach, Raz; Etzion, Yoram; Parvari, Ruti Journal: Journal of medical genetics Issue: Volume 56:Issue 4(2019) Page Start: 228 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Congenital thrombotic thrombocytopenic purpura in a large cohort of patients carrying a novel mutation in ADAMTS13 gene. Issue 185 (January 2020) Authors: Pikovsky, Oleg; Arafat, Maram; Ovadia, Hilla; Sharoni, Yoav; Al-Athamen, Kayed; Kanengisser-Pines, Bibi; Keren-Politansky, Anat; Levi, Itai; Erez, Offer; Parvari, Ruti; Rabinovich, Anat Journal: Thrombosis research Issue: Issue 185(2020) Page Start: 167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Essential role of carbonic anhydrase XII in secretory gland fluid and HCO3− secretion revealed by disease causing human mutation. (7th December 2015) Authors: Hong, Jeong Hee; Muhammad, Emad; Zheng, Changyu; Hershkovitz, Eli; Alkrinawi, Soliman; Loewenthal, Neta; Parvari, Ruti; Muallem, Shmuel Journal: Journal of physiology Issue: Volume 593:Number 24(2015:Dec.) Page Start: 5299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics. Issue 2 (5th June 2020) Authors: Arafat, Maram; Harlev, Avi; Har-Vardi, Iris; Levitas, Eliahu; Priel, Tsvia; Gershoni, Moran; Searby, Charles; Sheffield, Val C; Lunenfeld, Eitan; Parvari, Ruti Journal: Journal of medical genetics Issue: Volume 58:Issue 2(2021) Page Start: 106 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mutation in TDRD9 causes non-obstructive azoospermia in infertile men. Issue 9 (23rd May 2017) Authors: Arafat, Maram; Har-Vardi, Iris; Harlev, Avi; Levitas, Eliahu; Zeadna, Atif; Abofoul-Azab, Maram; Dyomin, Victor; Sheffield, Val C; Lunenfeld, Eitan; Huleihel, Mahmoud; Parvari, Ruti Journal: Journal of medical genetics Issue: Volume 54:Issue 9(2017) Page Start: 633 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel mutation in USP26 associated with azoospermia in a Sertoli cell‐only syndrome patient. Issue 7 (15th May 2020) Authors: Arafat, Maram; Zeadna, Atif; Levitas, Eliahu; Har Vardi, Iris; Samueli, Benzion; Shaco‐Levy, Ruth; Dabsan, Salam; Lunenfeld, Eitan; Huleihel, Mahmoud; Parvari, Ruti Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 7(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Phosphoglucomutase‐1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency. (19th August 2015) Authors: Loewenthal, Neta; Haim, Alon; Parvari, Ruti; Hershkovitz, Eli Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 3139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The Mutations Associated with Dilated Cardiomyopathy. (22nd May 2012) Authors: Parvari, Ruti; Levitas, Aviva Other Names: Szczesna-Cordary Danuta Academic Editor. Journal: Biochemistry research international Issue: Volume 2012(2012) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗