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Author/Creator Kotecha, Udhaya

2. Clinical and molecular characterization of Indian patients with fructose‐1, 6‐bisphosphatase deficiency: Identification of a frequent variant (E281K). (18th May 2018)

Authors:
Bhai, Pratibha; Bijarnia‐Mahay, Sunita; Puri, Ratna D.; Saxena, Renu; Gupta, Deepti; Kotecha, Udhaya; Sachdev, Anil; Gupta, Dhiren; Vyas, Vyomesh; Agarwal, Divya; Jain, Vivek; Bansal, Rajeev K.; Kumar, Tapisha G.; Verma, Ishwar Chander
Journal:
Annals of human genetics
Issue:
Volume 82:Number 5(2018:Sep.)
Page Start:
309
Record Type:
Journal Article
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6. Mutation update for the GPC3 gene involved in Simpson‐Golabi‐Behmel syndrome and review of the literature. Issue 6 (24th April 2018)

Authors:
Vuillaume, Marie‐Laure; Moizard, Marie‐Pierre; Rossignol, Sylvie; Cottereau, Edouard; Vonwill, Sandrine; Alessandri, Jean‐Luc; Busa, Tiffany; Colin, Estelle; Gérard, Marion; Giuliano, Fabienne; Lambert, Laetitia; Lefevre, Mathilde; Kotecha, Udhaya; Nampoothiri, Sheela; Netchine, Irène; Raynaud, M...
Journal:
Human mutation
Issue:
Volume 39:Issue 6(2018)
Page Start:
790
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature. Issue 12 (17th September 2018)

Authors:
Vuillaume, Marie‐Laure; Moizard, Marie‐Pierre; Rossignol, Sylvie; Cottereau, Edouard; Vonwill, Sandrine; Alessandri, Jean‐Luc; Busa, Tiffany; Colin, Estelle; Gérard, Marion; Giuliano, Fabienne; Lambert, Laetitia; Lefevre, Mathilde; Kotecha, Udhaya; Nampoothiri, Sheela; Netchine, Irène; Raynaud, M...
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
2110
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗