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Author/Creator Lord, Helen

1. Diagnostic value of exome and whole genome sequencing in craniosynostosis. Issue 4 (24th November 2016)

Authors:
Miller, Kerry A; Twigg, Stephen R F; McGowan, Simon J; Phipps, Julie M; Fenwick, Aimée L; Johnson, David; Wall, Steven A; Noons, Peter; Rees, Katie E M; Tidey, Elizabeth A; Craft, Judith; Taylor, John; Taylor, Jenny C; Goos, Jacqueline A C; Swagemakers, Sigrid M A; Mathijssen, Irene M J; van der ...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 4(2017)
Page Start:
260
Record Type:
Journal Article
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2. ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome. Issue 4 (13th February 2019)

Authors:
Glass, Graeme E.; O'Hara, Justine; Canham, Natalie; Cilliers, Deirdre; Dunaway, David; Fenwick, Aimee L.; Jeelani, Noor‐Owase; Johnson, David; Lester, Tracy; Lord, Helen; Morton, Jenny E. V.; Nishikawa, Hiroshi; Noons, Peter; Schwiebert, Kemmy; Shipster, Caroleen; Taylor‐Beadling, Alison; Twigg, ...
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 4(2019)
Page Start:
615
Record Type:
Journal Article
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3. Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans. (27th March 2017)

Authors:
Kim, Sharon; Twigg, Stephen R.F.; Scanlon, Victoria A.; Chandra, Aditi; Hansen, Tyler J.; Alsubait, Arwa; Fenwick, Aimee L.; McGowan, Simon J.; Lord, Helen; Lester, Tracy; Sweeney, Elizabeth; Weber, Astrid; Cox, Helen; Wilkie, Andrew O.M.; Golden, Andy; Corsi, Ann K.
Journal:
Human molecular genetics
Issue:
Volume 26:Number 11(2017:Jun. 01)
Page Start:
2118
Record Type:
Journal Article
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4. Pure de novo partial trisomy 6p in a girl with craniosynostosis1. Issue 2 (10th January 2013)

Authors:
Varvagiannis, Konstantinos; Stefanidou, Amalia; Gyftodimou, Yolanda; Lord, Helen; Williams, Louise; Sarri, Catherine; Pandelia, Efi; Bazopoulou‐Kyrkanidou, Euterpe; Noakes, Charlotte; Lester, Tracy; Wilkie, Andrew O.M.; Petersen, Michael B.
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 2(2013:Feb.)
Page Start:
343
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗