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Author/Creator Salter, Claire G.

1. Delineating the expanding phenotype associated with SCAPER gene mutation. Issue 8 (13th June 2019)

Authors:
Fasham, James; Arno, Gavin; Lin, Siying; Xu, Mingchu; Carss, Keren J.; Hull, Sarah; Lane, Amelia; Robson, Anthony G.; Wenger, Olivia; Self, Jay E.; Harlalka, Gaurav V.; Salter, Claire G.; Schema, Lynn; Moss, Timothy J.; Cheetham, Michael E.; Moore, Anthony T.; Raymond, F. Lucy; Chen, Rui; Baple, ...
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 8(2019)
Page Start:
1665
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. (January 2021)

Authors:
Rickman, Olivia J.; Salter, Claire G.; Gunning, Adam C.; Fasham, James; Voutsina, Nikol; Leslie, Joseph S.; McGavin, Lucy; Cross, Harold E.; Posey, Jennifer E.; Akdemir, Zeynep Coban; Jhangiani, Shalini N.; Lupski, James R.; Baple, Emma L.; Crosby, Andrew H.
Journal:
Parkinsonism & related disorders
Issue:
Volume 82(2021)
Page Start:
84
Record Type:
Journal Article
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3. Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature. Issue 4 (15th January 2016)

Authors:
Salter, Claire G.; Baralle, Diana; Collinson, Morag N.; Self, James E.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 4(2016)
Page Start:
1017
Record Type:
Journal Article
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5. Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies. (April 2018)

Authors:
Salter, Claire G.; Beijer, Danique; Hardy, Holly; Barwick, Katy E.S.; Bower, Matthew; Mademan, Ines; De Jonghe, Peter; Deconinck, Tine; Russell, Mark A.; McEntagart, Meriel M.; Chioza, Barry A.; Blakely, Randy D.; Chilton, John K.; De Bleecker, Jan; Baets, Jonathan; Baple, Emma L.; Walk, David; C...
Journal:
Neurology
Issue:
Volume 4:Number 2(2018)
Page Start:
Record Type:
Journal Article
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