Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, and Sheila Unger: Bone dysplasias: an atlas of genetic disorders of skeletal development: F...

por Smithson, Sarah
Publicado 2019

Medical students’ reactions to an experience-based learning model of clinical education

por Hay, Alexandra, Smithson, Sarah, Mann, Karen, Dornan, Tim
Publicado 2013

Teaching social determinants through geographic information system mapping

por Boggs, Zachary, Beck Dallaghan, Gary L., Smithson, Sarah, Lam, Yee
Publicado 2022

New macular findings in individuals with biallelic KLHL7 gene mutation

por Heng, Ling Zhi, Kennedy, Joanna, Smithson, Sarah, Newbury-Ecob, Ruth, Churchill, Amanda
Publicado 2019

Scope of professional roles for genetic counsellors and clinical geneticists in the United Kingdom: Position on behalf of the Association of Genetic Nurses and Counsellors and the...

por Middleton, Anna, Taverner, Nicola, Houghton, Catherine, Smithson, Sarah, Balasubramanian, Meena, Elmslie, Frances
Publicado 2022

Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case...

por Mason, Anna E., Grier, David, Smithson, Sarah F., Burren, Christine P., Gradhand, Elise
Publicado 2020

Pituitary apoplexy associated with acute COVID-19 infection and pregnancy

por Chan, Julie L., Gregory, Kimberly D., Smithson, Sarah S., Naqvi, Mariam, Mamelak, Adam N.
Publicado 2020

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

por Keogh, Steven J, McKee, Shane, Smithson, Sarah F, Grier, David, Steward, Colin G
Publicado 2012

Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis

por Taylor-Miller, Tashunka, Sivaprakasam, Ponni, Smithson, Sarah F., Steward, Colin G., Burren, Christine P.
Publicado 2020

Medical Student Leadership Development through a Business School Partnership Model: A Case Study and Implementation Strategy

por Daaleman, Timothy P, Storrie, Mindy, Beck Dallaghan, Gary, Smithson, Sarah, Gilliland, Kurt O, Byerley, Julie S
Publicado 2021

TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton

por Burren, Christine P., Caswell, Richard, Castle, Bruce, Welch, C. Ross, Hilliard, Tom N., Smithson, Sarah F., Ellard, Sian
Publicado 2018

Peak Performance: A Communications-Based Leadership and Teamwork Simulation for Fourth-Year Medical Students

por Smithson, Sarah, Beck Dallaghan, Gary, Crowner, Jason, Derry, Laura Trollinger, Vijayakumar, Akshitha (Ammu), Storrie, Mindy, Daaleman, Timothy P
Publicado 2020

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

por Crippa, Milena, Bestetti, Ilaria, Maitz, Silvia, Weiss, Karin, Spano, Alice, Masciadri, Maura, Smithson, Sarah, Larizza, Lidia, Low, Karen, Cohen, Lior, Finelli, Palma
Publicado 2020

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

por Pagnamenta, Alistair T, Yu, Jing, Evans, Julie, Twiss, Philip, Offiah, Amaka C, Wafik, Mohamed, Mehta, Sarju G, Javaid, Mohammed K, Smithson, Sarah F, Taylor, Jenny C
Publicado 2023

Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome

por Zhou, Yan, Koelling, Nils, Fenwick, Aimée L., McGowan, Simon J., Calpena, Eduardo, Wall, Steven A., Smithson, Sarah F., Wilkie, Andrew O.M., Twigg, Stephen R.F.
Publicado 2018

Brittle cornea syndrome: recognition, molecular diagnosis and management

por Burkitt Wright, Emma MM, Porter, Louise F, Spencer, Helen L, Clayton-Smith, Jill, Au, Leon, Munier, Francis L, Smithson, Sarah, Suri, Mohnish, Rohrbach, Marianne, Manson, Forbes DC, Black, Graeme CM
Publicado 2013

Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly

por Drissi, Ichrak, Fletcher, Emily, Shaheen, Ranad, Nahorski, Michael, Alhashem, Amal M, Lisgo, Steve, Fernández-Jaén, Alberto, Schon, Katherine, Tlili-Graiess, Kalthoum, Smithson, Sarah F, Lindsay, Susan, J Sharpe, Hayley, Alkuraya, Fowzan S, Woods, Geoff
Publicado 2022

Complement blockade with eculizumab for treatment of severe Coronavirus Disease 2019 in pregnancy: A case series

por Burwick, Richard M., Dellapiana, Gabriela, Newman, Rachel A., Smithson, Sarah D., Naqvi, Mariam, Williams, John, Wong, Melissa S., Bautista, Martha, Gaden, Anna, Kazani, Shamsah D., Dunn, Derek A., Ma, Mark H., Mitter, Sanjay, Monteleone, Jonathan P. R., Ortiz, Stephan R., Ghandehari, Sara, Merin, Noah, Zakowski, Mark I., Karumanchi, S. Ananth
Publicado 2022

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

por Blakes, Alexander J. M., Wai, Htoo A., Davies, Ian, Moledina, Hassan E., Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N. Simon, Burren, Christine P., Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F., Taylor Tavares, Ana Lisa, O’Donovan, Peter, Douglas, Andrew G. L., Whiffin, Nicola, Baralle, Diana, Lord, Jenny
Publicado 2022

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K(+) channelopathies

por Gripp, Karen W., Smithson, Sarah F., Scurr, Ingrid J., Baptista, Julia, Majumdar, Anirban, Pierre, Germaine, Williams, Maggie, Henderson, Lindsay B., Wentzensen, Ingrid M., McLaughlin, Heather, Leeuwen, Lisette, Simon, Marleen E. H., van Binsbergen, Ellen, Dinulos, Mary Beth P., Kaplan, Julie D., McRae, Anne, Superti-Furga, Andrea, Good, Jean-Marc, Kutsche, Kerstin
Publicado 2021