1. A recurrent homozygous missense DPM3 variant leads to muscle and brain disease. Issue 6 (19th August 2022) Authors: Nagy, Sara; Lau, Tracy; Alavi, Shahryar; Karimiani, Ehsan Ghayoor; Vallian, Jalal; Ng, Bobby G.; Noroozi Asl, Samaneh; Akhondian, Javad; Bahreini, Amir; Yaghini, Omid; Uapinyoying, Prech; Bonnemann, Carsten; Freeze, Hudson H.; Dissanayake, Vajira H. W.; Sirisena, Nirmala D.; Schmidts, Miriam; Hou... Journal: Clinical genetics Issue: Volume 102:Issue 6(2022) Page Start: 530 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ALG11‐CDG syndrome: Expanding the phenotype. Issue 3 (24th January 2019) Authors: Haanpää, Maria K.; Ng, Bobby G.; Gallant, Natalie M.; Singh, Kathryn E.; Brown, Candida; Kimonis, Virginia; Freeze, Hudson H.; Muller, Eric A. Journal: American journal of medical genetics Issue: Volume 179:Issue 3(2019) Page Start: 498 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. Issue 4 (26th March 2021) Authors: Alsharhan, Hind; He, Miao; Edmondson, Andrew C.; Daniel, Earnest J. P.; Chen, Jie; Donald, Tyhiesia; Bakhtiari, Somayeh; Amor, David J.; Jones, Elizabeth A.; Vassallo, Grace; Vincent, Marie; Cogné, Benjamin; Deb, Wallid; Werners, Arend H.; Jin, Sheng C.; Bilguvar, Kaya; Christodoulou, John; Webst... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 4(2021) Page Start: 1001 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Issue 7 (21st March 2016) Authors: Ng, Bobby G.; Shiryaev, Sergey A.; Rymen, Daisy; Eklund, Erik A.; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E.; Alehan, Fusun; Midro, Alina T.; Bamshad, Michael J.; Barone, Rita; Berry, Gerard T.; Brumbaugh, Jane E.; Buckingham, Kati J.; Clarkson, Katie; Cole, F. Sessions; O'Connor, Shawn; ... Journal: Human mutation Issue: Volume 37:Issue 7(2016) Page Start: 653 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines. Issue 5 (30th June 2022) Authors: Albokhari, Daniah; Ng, Bobby G.; Guberinic, Alis; Daniel, Earnest James Paul; Engelhardt, Nicole M.; Barone, Rita; Fiumara, Agata; Garavelli, Livia; Trimarchi, Gabriele; Wolfe, Lynne; Raymond, Kimiyo M.; Morava, Eva; He, Miao; Freeze, Hudson H.; Lam, Christina; Edmondson, Andrew C. Other Names: Bhattacharya Kaustuv guestEditor. Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 5(2022) Page Start: 969 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. CDG or not CDG. Issue 3 (1st April 2022) Authors: Freeze, Hudson H.; Jaeken, Jaak; Matthijs, Gert Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 3(2022) Page Start: 383 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients. Issue 3 (11th February 2019) Authors: Vals, Mari‐Anne; Ashikov, Angel; Ilves, Pilvi; Loorits, Dagmar; Zeng, Qiang; Barone, Rita; Huijben, Karin; Sykut‐Cegielska, Jolanta; Diogo, Luísa; Elias, Abdallah F.; Greenwood, Robert S.; Grunewald, Stephanie; van Hasselt, Peter M.; van de Kamp, Jiddeke M.; Mancini, Grazia; Okninska, Agnieszka; ... Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 3(2019) Page Start: 553 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cover Image, Volume 179A, Number 3, March 2019. Issue 3 (12th February 2019) Authors: Haanpää, Maria K.; Ng, Bobby G.; Gallant, Natalie M.; Singh, Kathryn E.; Brown, Candida; Kimonis, Virginia; Freeze, Hudson H.; Muller, Eric A. Journal: American journal of medical genetics Issue: Volume 179:Issue 3(2019) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. DDOST‐CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype. Issue 1 (17th October 2022) Authors: Elsharkawi, Ibrahim; Wongkittichote, Parith; Daniel, Earnest James Paul; Starosta, Rodrigo Tzovenos; Ueda, Keisuke; Ng, Bobby G.; Freeze, Hudson H.; He, Miao; Shinawi, Marwan Journal: Journal of inherited metabolic disease Issue: Volume 46:Issue 1(2023) Page Start: 92 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Deficiency of the Cog8 Subunit in Normal and CDG‐Derived Cells Impairs the Assembly of the COG and Golgi SNARE Complexes. (31st July 2013) Authors: Laufman, Orly; Freeze, Hudson H.; Hong, Wanjin; Lev, Sima Journal: Traffic Issue: Volume 14:Number 10(2013:Oct.) Page Start: 1065 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗