1. Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers‐Danlos syndrome by its dermatological manifestations: Report of three affected patients. Issue 5 (29th January 2014) Authors: Greally, Marie T.; Kalis, Neale N.; Agab, Wahid; Ardati, Kasim; Giurgea, Sanda; Kornak, Uwe; Van Maldergem, Lionel Journal: American journal of medical genetics Issue: Volume 164:Issue 5(2014.) Page Start: 1245 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Chromosome 22q11.21 microduplication in association with hypoplastic left heart syndrome with hypoplastic pulmonary arteries. (22nd January 2014) Authors: McMahon, Colin J.; Morgan, Conall T.; Greally, Marie T. Journal: Cardiology in the young Issue: Volume 25:Number 1(2015) Page Start: 167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Chromosome 22q11.21 microduplication in association with hypoplastic left heart syndrome with hypoplastic pulmonary arteries. (22nd January 2014) Authors: McMahon, Colin J.; Morgan, Conall T.; Greally, Marie T. Journal: Cardiology in the young Issue: Volume 25:Number 1(2015) Page Start: 167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo interstitial deletion 2q14.1q22.1: Is there a recognizable phenotype?. Issue 12 (26th September 2014) Authors: Greally, Marie T.; Robinson, Eve; Allen, Nicholas M.; O'Donovan, Donough; Crolla, John A. Journal: American journal of medical genetics Issue: Volume 164:Issue 12(2014.) Page Start: 3194 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder. Issue 2 (25th November 2022) Authors: Roessler, Franziska; Beck, Anita E.; Susie, Ball; Tobias, Bartolomaeus; Begtrup, Amber; Biskup, Saskia; Caluseriu, Oana; Delanty, Norman; Fröhlich, Christine; Greally, Marie T.; Karnstedt, Maike; Klöckner, Chiara; Kurtzberg, Joanne; Schubert, Susanna; Schulze, Martin; Weidenbach, Michael; Westpha... Journal: American journal of medical genetics Issue: Volume 191:Issue 2(2023) Page Start: 469 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗