Результаты поиска - Smithson, Sarah

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... по Smithson, Sarah

Полный текст Полный текст

Medical students’ reactions to an experience-based learning model of clinical education по Hay, Alexandra, Smithson, Sarah, Mann, Karen, Dornan, Tim

Полный текст Полный текст Полный текст

Time to revive the GP-focused clinical examination по Smithson, Sarah, Bartlett, Maggie, Blanchard, David, Webb, Matthew

Полный текст Полный текст Полный текст

New macular findings in individuals with biallelic KLHL7 gene mutation по Heng, Ling Zhi, Kennedy, Joanna, Smithson, Sarah, Newbury-Ecob, Ruth, Churchill, Amanda

Полный текст Полный текст Полный текст

Liver Enzymes Elevation and Immune Reconstitution Among Treatment-Naïve HIV-Infected Patients Instituting Antiretroviral Therapy по OFOTOKUN, IGHOVWERHA, SMITHSON, SARAH E., LU, CHENGXING, EASLEY, KIRK A., LENNOX, JEFFREY L.

Полный текст Полный текст Полный текст

Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case... по Mason, Anna E., Grier, David, Smithson, Sarah F., Burren, Christine P., Gradhand, Elise

Полный текст Полный текст Полный текст

Pituitary apoplexy associated with acute COVID-19 infection and pregnancy по Chan, Julie L., Gregory, Kimberly D., Smithson, Sarah S., Naqvi, Mariam, Mamelak, Adam N.

Полный текст Полный текст Полный текст

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome) по Keogh, Steven J, McKee, Shane, Smithson, Sarah F, Grier, David, Steward, Colin G

Полный текст Полный текст Полный текст

Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis по Taylor-Miller, Tashunka, Sivaprakasam, Ponni, Smithson, Sarah F., Steward, Colin G., Burren, Christine P.

Полный текст Полный текст Полный текст

Medical Student Leadership Development through a Business School Partnership Model: A Case Study and Implementation Strategy по Daaleman, Timothy P, Storrie, Mindy, Beck Dallaghan, Gary, Smithson, Sarah, Gilliland, Kurt O, Byerley, Julie S

Полный текст Полный текст Полный текст

TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton по Burren, Christine P., Caswell, Richard, Castle, Bruce, Welch, C. Ross, Hilliard, Tom N., Smithson, Sarah F., Ellard, Sian

Полный текст Полный текст Полный текст

Peak Performance: A Communications-Based Leadership and Teamwork Simulation for Fourth-Year Medical Students по Smithson, Sarah, Beck Dallaghan, Gary, Crowner, Jason, Derry, Laura Trollinger, Vijayakumar, Akshitha (Ammu), Storrie, Mindy, Daaleman, Timothy P

Полный текст Полный текст Полный текст

Predictive testing for inherited prion disease: report of 22 years experience по Owen, Jane, Beck, Jon, Campbell, Tracy, Adamson, Gary, Gorham, Michele, Thompson, Andrew, Smithson, Sarah, Rosser, Elizabeth, Rudge, Peter, Collinge, John, Mead, Simon

Полный текст Полный текст Полный текст

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome по Crippa, Milena, Bestetti, Ilaria, Maitz, Silvia, Weiss, Karin, Spano, Alice, Masciadri, Maura, Smithson, Sarah, Larizza, Lidia, Low, Karen, Cohen, Lior, Finelli, Palma

Полный текст Полный текст Полный текст

Clinical utility gene card for: Cantú syndrome по Kirk, Edwin P, Scurr, Ingrid, van Haaften, Gijs, van Haelst, Mieke M, Nichols, Colin G, Williams, Maggie, Smithson, Sarah F, Grange, Dorothy K

Полный текст Полный текст Полный текст

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

Полный текст Полный текст Полный текст

Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications по Bargal, Ruth, Cormier-Daire, Valerie, Ben-Neriah, Ziva, Le Merrer, Martine, Sosna, Jacob, Melki, Judith, Zangen, David H., Smithson, Sarah F., Borochowitz, Zvi, Belostotsky, Ruth, Raas-Rothschild, Annick

Полный текст Полный текст Полный текст

Brittle cornea syndrome: recognition, molecular diagnosis and management по 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

Полный текст Полный текст Полный текст

Autism, language and communication in children with sex chromosome trisomies по Bishop, Dorothy V M, Jacobs, Patricia A, Lachlan, Katherine, Wellesley, Diana, Barnicoat, Angela, Boyd, Patricia A, Fryer, Alan, Middlemiss, Prisca, Smithson, Sarah, Metcalfe, Kay, Shears, Deborah, Leggett, Victoria, Nation, Kate, Scerif, Gaia

Полный текст Полный текст Полный текст

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome по Jones, Wendy D., Dafou, Dimitra, McEntagart, Meriel, Woollard, Wesley J., Elmslie, Frances V., Holder-Espinasse, Muriel, Irving, Melita, Saggar, Anand K., Smithson, Sarah, Trembath, Richard C., Deshpande, Charu, Simpson, Michael A.

Полный текст Полный текст Полный текст