1. The 2017 international classification of the Ehlers–Danlos syndromes. Issue 1 (March 2017) Authors: Malfait, Fransiska; Francomano, Clair; Byers, Peter; Belmont, John; Berglund, Britta; Black, James; Bloom, Lara; Bowen, Jessica M.; Brady, Angela F.; Burrows, Nigel P.; Castori, Marco; Cohen, Helen; Colombi, Marina; Demirdas, Serwet; De Backer, Julie; De Paepe, Anne; Fournel‐Gigleux, Sylvie; Fran... Other Names: Tinkle Brad T. guestEditor.; Malfait Fransiska guestEditor.; Francomano Clair A. guestEditor.; Byers Peter H. guestEditor. Journal: American journal of medical genetics Issue: Volume 175:Issue 1(2017) Page Start: 8 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. More than meets the eye: The evolving phenotype of Weill–Marchesani syndrome—diagnostic confusion with geleophysic dysplasia. Issue 12 (16th August 2013) Authors: Pimienta, Allen L.; Wilcox, William R.; Reinstein, Eyal Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. The yield of chromosomal microarray analysis among pregnancies terminated due to fetal malformations. (17th January 2022) Authors: Pasternak, Yael; Daykan, Yair; Tenne, Tamar; Reinstein, Eyal; Miller, Netanella; Shechter-Maor, Gil; Maya, Idit; Biron-Shental, Tal; Sukenik Halevy, Rivka Journal: Journal of maternal-fetal & neonatal medicine Issue: Volume 35:Number 2(2022) Page Start: 336 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A founder mutation in TCTN2 causes Meckel‐Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin. Issue 5 (15th February 2021) Authors: Litz Philipsborn, Shira; Hartmajer, Shulamit; Shtorch Asor, Atalia; Vinovezky, Mika; Regev, Miriam; Singer, Amihood; Reinstein, Eyal Journal: American journal of medical genetics Issue: Volume 185:Issue 5(2021) Page Start: 1610 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Familial Occurrence of Atrioventricular Nodal Reentrant Tachycardia. (February 2017) Authors: Michowitz, Yoav; Anis-Heusler, Adi; Reinstein, Eyal; Tovia-Brodie, Oholi; Glick, Aharon; Belhassen, Bernard Journal: Circulation Issue: Volume 10:Number 2(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder1. Issue 6 (30th April 2013) Authors: Barajas, Brenda D.; Sun, Angela; Rimoin, David L.; Reinstein, Eyal Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1442 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. More than meets the eye: The evolving phenotype of Weill–Marchesani syndrome—diagnostic confusion with geleophysic dysplasia. Issue 12 (16th August 2013) Authors: Pimienta, Allen L.; Wilcox, William R.; Reinstein, Eyal Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Arterial tortuosity in patients with Filamin A‐ associated vascular aneurysms. Issue 11 (14th August 2014) Authors: Reinstein, Eyal; Morris, Shaine A.; Rimoin, David L.; Robertson, Stephen P.; Lacro, Ronald V. Journal: American journal of medical genetics Issue: Volume 164:Issue 11(2014.) Page Start: 2961 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mutations in TAX1BP3 Cause Dilated Cardiomyopathy with Septo‐Optic Dysplasia. Issue 4 (16th March 2015) Authors: Reinstein, Eyal; Orvin, Katia; Tayeb‐Fligelman, Einav; Stiebel‐Kalish, Hadas; Tzur, Shay; Pimienta, Allen L.; Bazak, Lily; Bengal, Tuvia; Cohen, Lior; Gaton, Dan D.; Bormans, Concetta; Landau, Meytal; Kornowski, Ran; Shohat, Mordechai; Behar, Doron M. Journal: Human mutation Issue: Volume 36:Issue 4(2015:Apr.) Page Start: 439 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Prenatal diagnosis of a likely pathogenic variant in ZBTB18: Natural evolution of fetal phenotype including the long bones and corpus callosum. Issue 3 (14th December 2021) Authors: Birnbaum, Roee; Markovitch, Ofer; Biron‐shental, Tal; Kidron, Debora; Ben‐Sira, Liat; Litz Philipsborn, Shira; Reinstein, Eyal Journal: American journal of medical genetics Issue: Volume 188:Issue 3(2022) Page Start: 978 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗