1. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. Issue 4 (27th November 2015) Authors: Avila, M.; Dyment, D.A.; Sagen, J.V.; St‐Onge, J.; Moog, U.; Chung, B.H.Y.; Mo, S.; Mansour, S.; Albanese, A.; Garcia, S.; Martin, D.O.; Lopez, A.A.; Claudi, T.; König, R.; White, S.M.; Sawyer, S.L.; Bernstein, J.A.; Slattery, L.; Jobling, R.K.; Yoon, G. Journal: Clinical genetics Issue: Volume 89:Issue 4(2016) Page Start: 501 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. (7th October 2013) Authors: Chassaing, N.; Causse, A.; Vigouroux, A.; Delahaye, A.; Alessandri, J.‐L.; Boespflug‐Tanguy, O.; Boute‐Benejean, O.; Dollfus, H.; Duban‐Bedu, B.; Gilbert‐Dussardier, B.; Giuliano, F.; Gonzales, M.; Holder‐Espinasse, M.; Isidor, B.; Jacquemont, M.‐L.; Lacombe, D.; Martin‐Coignard, D.; Mathieu‐Dram... Journal: Clinical genetics Issue: Volume 86:Number 4(2014:Oct.) Page Start: 326 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. Issue 1 (17th May 2018) Authors: Baer, S.; Afenjar, A.; Smol, T.; Piton, A.; Gérard, B.; Alembik, Y.; Bienvenu, T.; Boursier, G.; Boute, O.; Colson, C.; Cordier, M.‐P.; Cormier‐Daire, V.; Delobel, B.; Doco‐Fenzy, M.; Duban‐Bedu, B.; Fradin, M.; Geneviève, D.; Goldenberg, A.; Grelet, M.; Haye, D. Journal: Clinical genetics Issue: Volume 94:Issue 1(2018) Page Start: 141 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗