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Author/Creator Thompson, Elizabeth M.

1. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. (21st January 2015)

Authors:
Terhal, Paulien A.; Nievelstein, Rutger Jan A. J.; Verver, Eva J. J.; Topsakal, Vedat; van Dommelen, Paula; Hoornaert, Kristien; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E. H.; Smithson, Sarah F.; Marcelis, Carlo; Kerr, Bronwyn; Clayton‐Smith, Jill; Kinning, Esther; Mansour, Sahar; Elms...
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 3(2015:Mar.)
Page Start:
461
Record Type:
Journal Article
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3. Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH123. Issue 1 (26th November 2012)

Authors:
Nicholl, Jillian; Waters, Wendy; Suwalski, Shanna; Brown, Sue; Hull, Yvonne; Harbord, Michael G.; Entwistle, John; Thompson, Suzanna; Clark, Damian; Pridmore, Claire; Haan, Eric; Barnett, Christopher; McGregor, Lesley; Liebelt, Jan; Thompson, Elizabeth M.; Friend, Kathryn; Bain, Sharon M.; Yu, Su...
Journal:
American journal of medical genetics
Issue:
Volume 162:Issue 1(2013)
Page Start:
24
Record Type:
Journal Article
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4. FGF9 variant in 46, XY DSD patient suggests a role for dimerization in sex determination. Issue 3 (28th November 2022)

Authors:
Croft, Brittany; Bird, Anthony D.; Ono, Makoto; Eggers, Stefanie; Bagheri‐Fam, Stefan; Ryan, Janelle M.; Reyes, Alejandra P.; van den Bergen, Jocelyn; Baxendale, Anne; Thompson, Elizabeth M.; Kueh, Andrew J.; Stanton, Peter; Thomas, Tim; Sinclair, Andrew H.; Harley, Vincent R.
Journal:
Clinical genetics
Issue:
Volume 103:Issue 3(2023)
Page Start:
277
Record Type:
Journal Article
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5. Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development. Issue 1 (2nd November 2017)

Authors:
Robevska, Gorjana; van den Bergen, Jocelyn A.; Ohnesorg, Thomas; Eggers, Stefanie; Hanna, Chloe; Hersmus, Remko; Thompson, Elizabeth M.; Baxendale, Anne; Verge, Charles F.; Lafferty, Antony R.; Marzuki, Nanis S.; Santosa, Ardy; Listyasari, Nurin A.; Riedl, Stefan; Warne, Garry; Looijenga, Leender...
Journal:
Human mutation
Issue:
Volume 39:Issue 1(2018)
Page Start:
124
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗