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Author/Creator Kaur, Anupriya

3. Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities. Issue 5 (30th July 2021)

Authors:
Kaur, Parneet; do Rosario, Michelle C; Hebbar, Malavika; Sharma, Suvasini; Kausthubham, Neethukrishna; Nair, Karthik; A, Shrikiran; Bhat Y, Ramesh; Lewis, Leslie Edward S; Nampoothiri, Sheela; Patil, Siddaramappa J; Suresh, Narayanaswami; Bijarnia Mahay, Sunita; Dua Puri, Ratna; Pai, Shivanand; K...
Journal:
Clinical genetics
Issue:
Volume 100:Issue 5(2021)
Page Start:
542
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Issue 9 (23rd November 2021)

Authors:
Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri,...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 9(2022)
Page Start:
865
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Issue 9 (23rd November 2021)

Authors:
Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri,...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 9(2022)
Page Start:
865
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗