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Author/Creator Jain, Vani

1. De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. Issue 4 (4th February 2016)

Authors:
Isidor, Bertrand; Küry, Sébastien; Rosenfeld, Jill A.; Besnard, Thomas; Schmitt, Sébastien; Joss, Shelagh; Davies, Sally J; Roger Lebel, Robert; Henderson, Alex; Schaaf, Christian P.; Streff, Haley E.; Yang, Yaping; Jain, Vani; Chida, Nodoka; Latypova, Xenia; Caignec, Cédric Le; Cogné, Benjamin; ...
Journal:
Human mutation
Issue:
Volume 37:Issue 4(2016)
Page Start:
354
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation. Issue 6 (7th May 2021)

Authors:
Cairns, Lauren M; Rankin, Julia; Hamad, Asma; Cooper, Nicola; Merrifield, Katrina; Jain, Vani; Rosser, Elisabeth; Rogers, Megan; Buston, Sarah; Stopford, Cheryl; Jones, Gabriela; Lefroy, Henrietta; Németh, Andrea H; Holden, Simon; Douglas, Andrew G L
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 6(2022)
Page Start:
544
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗