1. A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. Issue 7 (20th June 2012) Authors: Zivony-Elboum, Yifat; Westbroek, Wendy; Kfir, Nehama; Savitzki, David; Shoval, Yishay; Bloom, Assnat; Rod, Raya; Khayat, Morad; Gross, Bella; Samri, Walid; Cohen, Hector; Sonkin, Vadim; Freidman, Tatiana; Geiger, Dan; Fattal-Valevski, Aviva; Anikster, Yair; Waters, Aoife M; Kleta, Robert; Falik-Z... Journal: Journal of medical genetics Issue: Volume 49:Issue 7(2012) Page Start: 462 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A homozygous TTN gene variant associated with lethal congenital contracture syndrome. Issue 4 (25th March 2018) Authors: Chervinsky, Elena; Khayat, Morad; Soltsman, Sofia; Habiballa, Hatem; Elpeleg, Orly; Shalev, Stavit Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 1001 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia. Issue 3 (16th June 2022) Authors: Cohen-Barak, Eran; Danial-Farran, Nada; Chervinsky, Elana; Alimi-Kasem, Ola; Zagairy, Fadia; Livneh, Ido; Mawassi, Bannan; Hreish, Maysa; Khayat, Morad; Lossos, Alexander; Meiner, Vardiella; Ehilevitch, Nina; Weiss, Karin; Shalev, Stavit Journal: Journal of medical genetics Issue: Volume 60:Issue 3(2023) Page Start: 233 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor‐1 (IGF1). (13th April 2013) Authors: Hess, Ora; Khayat, Morad; Hwa, Vivian; Heath, Karen E.; Teitler, Amnon; Hritan, Yifat; Allon‐Shalev, Stavit; Tenenbaum‐Rakover, Yardena Journal: Clinical endocrinology Issue: Volume 79:Number 6(2013:Dec.) Page Start: 838 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A PIGN mutation responsible for multiple congenital anomalies–hypotonia–seizures syndrome 1 (MCAHS1) in an Israeli–Arab family. Issue 1 (14th September 2015) Authors: Khayat, Morad; Tilghman, Joseph Mark; Chervinsky, Ilana; Zalman, Lucia; Chakravarti, Aravinda; Shalev, Stavit A. Journal: American journal of medical genetics Issue: Volume 170:Issue 1(2016) Page Start: 176 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Acral peeling in Nagashima type palmo‐plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion. Issue 2 (17th August 2021) Authors: Cohen‐Barak, Eran; Azzam, Wassim; Koetsier, Jennifer L.; Danial‐Farran, Nada; Barcan, Moran; Hriesh, Maysa; Khayat, Morad; Edison, Natalia; Krausz, Judith; Gafni‐Amsalem, Chen; Kubo, Akiharu; Godsel, Lisa M.; Ziv, Michael; Allon‐Shalev, Stavit Journal: Experimental dermatology Issue: Volume 31:Issue 2(2022) Page Start: 214 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. An Update on the Cutaneous Manifestations of Darier Disease. Issue 5 (September 2021) Authors: Yeshurun, Algit; Ziv, Michael; Cohen-Barak, Eran; Vered, Shiraz; Rozenman, Dganit; Sah, Muhammad; Khayat, Morad; Polyakov, Olga; Amichai, Boaz; Zlotogorski, Abraham; Shalev, Stavit; Dodiuk-Gad, Roni P. Journal: Journal of cutaneous medicine and surgery Issue: Volume 25:Issue 5(2021) Page Start: 498 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome. Issue 2 (28th January 2019) Authors: Sharkia, Rajech; Wierenga, Klaas J.; Kessel, Amit; Azem, Abdussalam; Bertini, Enrico; Carrozzo, Rosalba; Torraco, Alessandra; Goffrini, Paola; Ceccatelli Berti, Camilla; McCormick, M. Eileen; Plecko, Barbara; Klein, Andrea; Abela, Lucia; Hengel, Holger; Schöls, Ludger; Shalev, Stavit; Khayat, Mor... Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 2(2019) Page Start: 264 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor. Issue 5 (20th December 2021) Authors: Cohen‐Barak, Eran; Toledano‐Alhadef, Hagit; Danial‐Farran, Nada; Livneh, Ido; Mwassi, Banan; Hriesh, Maysa; Zagairy, Fadia; Gafni‐Amsalem, Chen; Bashir, Husam; Khayat, Morad; Warrour, Nassim; Sher, Osnat; Marom, Daphna; Postovsky, Sergey; Dujovny, Tal; Ziv, Michael; Shalev, Stavit A. Journal: Experimental dermatology Issue: Volume 31:Issue 5(2022) Page Start: 775 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗