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Author/Creator Wilson, Louise C.

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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2. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. Issue 7 (12th May 2017)

Authors:
Wade, Emma M.; Jenkins, Zandra A.; Daniel, Philip B.; Morgan, Tim; Addor, Marie C.; Adés, Lesley C.; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae‐Joon; de Geus, Christa M.; Duba, Hans‐Christoph; Fletcher, Elaine; Hadzsiev, Kinga; Hennekam, Raoul C. M.; Kim, Chong A.; Krakow, Deborah; Mo...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 7(2017)
Page Start:
1739
Record Type:
Journal Article
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4. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013)

Authors:
Santen, Gijs W.E.; Aten, Emmelien; Vulto‐van Silfhout, Anneke T.; Pottinger, Caroline; van Bon, Bregje W.M.; van Minderhout, Ivonne J.H.M.; Snowdowne, Ronelle; van der Lans, Christian A.C.; Boogaard, Merel; Linssen, Margot M.L.; Vijfhuizen, Linda; van der Wielen, Michiel J.R.; Vollebregt, M.J. (E...
Journal:
Human mutation
Issue:
Volume 34:Issue 11(2013:Nov.)
Page Start:
1519
Record Type:
Journal Article
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5. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013)

Authors:
Santen, Gijs W.E.; Aten, Emmelien; Vulto‐van Silfhout, Anneke T.; Pottinger, Caroline; van, Bregje W.M.; van, Ivonne J.H.M.; Snowdowne, Ronelle; van der, Christian A.C.; Boogaard, Merel; Linssen, Margot M.L.; Vijfhuizen, Linda; van der, Michiel J.R.; Vollebregt, M.J. (Ellen); Breuning, Martijn H....
Journal:
Human mutation
Issue:
Volume 34:Issue 11(2013:Nov.)
Page Start:
1519
Record Type:
Journal Article
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6. Cover Image, Volume 176A, Number 4, April 2018. Issue 4 (25th March 2018)

Authors:
Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 4(2018)
Page Start:
n/a
Record Type:
Journal Article
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7. 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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8. Frontometaphyseal dysplasia and keloid formation without FLNA mutations. (21st April 2015)

Authors:
Basart, Hanneke; van de Kar, Annekatrien; Adès, Lesley; Cho, Tae‐Joon; Carter, Erin; Maas, Saskia M.; Wilson, Louise C.; van der Horst, Chantal M. A. M.; Wade, Emma M.; Robertson, Stephen P.; Hennekam, Raoul C.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 6(2015:Jun.)
Page Start:
1215
Record Type:
Journal Article
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9. Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations. Issue 9 (2nd August 2013)

Authors:
Kido, Yasuhiro; Gordon, Christopher T.; Sakazume, Satoru; Bdira, Eya Ben; Dattani, Mehul; Wilson, Louise C.; Lyonnet, Stanislas; Murakami, Nobuyuki; Cunningham, Michael L.; Amiel, Jeanne; Nagai, Toshiro
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 9(2013:Sep.)
Page Start:
2339
Record Type:
Journal Article
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10. Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations. Issue 9 (2nd August 2013)

Authors:
Kido, Yasuhiro; Gordon, Christopher T.; Sakazume, Satoru; Bdira, Eya Ben; Dattani, Mehul; Wilson, Louise C.; Lyonnet, Stanislas; Murakami, Nobuyuki; Cunningham, Michael L.; Amiel, Jeanne; Nagai, Toshiro
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 9(2013:Sep.)
Page Start:
2339
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗