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Author/Creator Smithson, Sarah F.

1. Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry. Issue 4 (11th December 2019)

Authors:
Grange, Dorothy K.; Roessler, Helen I.; McClenaghan, Conor; Duran, Karen; Shields, Kathleen; Remedi, Maria S.; Knoers, Nine V. A. M.; Lee, Jin‐Moo; Kirk, Edwin P.; Scurr, Ingrid; Smithson, Sarah F.; Singh, Gautam K.; van Haelst, Mieke M.; Nichols, Colin G.; van Haaften, Gijs
Other Names:
Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 181:Issue 4(2019)
Page Start:
658
Record Type:
Journal Article
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2. TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton. Issue 9 (25th August 2018)

Authors:
Burren, Christine P.; Caswell, Richard; Castle, Bruce; Welch, C. Ross; Hilliard, Tom N.; Smithson, Sarah F.; Ellard, Sian
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 9(2018)
Page Start:
1950
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination. Issue 4 (13th January 2021)

Authors:
Edgerley, Katharine; Barnicoat, Angela; Offiah, Amaka C.; Calder, Alistair D.; Mankad, Kshitij; Thomas, Nicholas Simon; Bunyan, David J.; Williams, Maggie; Buxton, Chris; Majumdar, Arniban; Vijayakumar, Kayal; Hilliard, Tom; Turner, James; Burren, Christine P.; Monsell, Fergal; Smithson, Sarah F.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 4(2021)
Page Start:
1228
Record Type:
Journal Article
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6. Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome. Issue 10 (11th August 2020)

Authors:
Ashraf, Tazeen; Vaina, Camelia; Giri, Dinesh; Burren, Christine P.; James, Margaret; Offiah, Amaka C.; Overton, Timothy; Baptista, Julia; Ellard, Sian; Smithson, Sarah F.
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 10(2020)
Page Start:
2403
Record Type:
Journal Article
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10. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗