Congenital anomalies after treatment for infertility: Partly related to the cause of infertility

le Park, Soo-Mi, Mathur, Raj, Smith, Gordon C S
Foilsithe 2006

SAT-232 Is There a Role for Genetic Testing in Guiding the Management of Primary Hyperparathyroidism in Pregnancy?

le McCarthy, Aisling, Khoo, Serena, Park, Soo-Mi, Casey, Ruth
Foilsithe in J Endocr Soc (2019)

Pathological fracture of non-ossifying fibroma associated with neurofibromatosis type 1

le Gill, James Ritchie, EL Nakhal, Tamer Magid, Park, Soo-Mi, Chomicki, Mariusz
Foilsithe in BMJ Case Rep (2019)

Assembly of a Ca(2+)-dependent BK channel signaling complex by binding to β2 adrenergic receptor

le Liu, Guoxia, Shi, Jingyi, Yang, Lin, Cao, Luxiang, Park, Soo Mi, Cui, Jianmin, Marx, Steven O
Foilsithe 2004

Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mut...

le Vasudevan, Pradeep, Powell, Corrina, Nicholas, Adeline K, Scudamore, Ian, Greening, James, Park, Soo-Mi, Schoenmakers, Nadia
Foilsithe in Endocrinol Diabetes Metab Case Rep (2017)

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child

le Schon, Katherine, Spasic-Boskovic, Olivera, Brugger, Kim, Graves, Tracey D., Abbs, Stephen, Park, Soo-Mi, Ambegaonkar, Gautam, Armstrong, Ruth
Foilsithe in Neurogenetics (2017)

Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers

le Wong, Mei Yin, Andrews, Katrina A., Challis, Benjamin G., Park, Soo‐Mi, Acerini, Carlo L., Maher, Eamonn R., Casey, Ruth T.
Foilsithe in Clin Endocrinol (Oxf) (2019)

A Case of Hepatocellular Carcinoma Within Hepatocellular Adenoma in a Non-Cirrhotic Male

le Kim, Dong Hwan, Kim, Seung Up, Nam, Dong Hyuk, Choi, Yoon Jung, Park, Soo Mi, Lee, Chon Kyun, Kim, Do Young
Foilsithe 2009

A case of a metastatic SDHA mutated paraganglioma re-presenting twenty-three years after initial surgery

le Casey, Ruth T, Challis, Benjamin G, Marker, Alison, Pitfield, Deborah, Cheow, Heok K, Shaw, Ashley, Park, Soo-Mi, Simpson, Helen L, Maher, Eamonn R
Foilsithe in Endocr Relat Cancer (2017)

Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD)

le Hague, Jennifer, Casey, Ruth, Bruty, Jonathan, Legerton, Tom, Abbs, Stephen, Oddy, Susan, Powlson, Andrew S, Majeed, Mohamed, Gurnell, Mark, Park, Soo-Mi, Simpson, Helen
Foilsithe in Endocrinol Diabetes Metab Case Rep (2018)

A novel CASR variant in a family with familial hypocalciuric hypercalcaemia and primary hyperparathyroidism

le Sagi, Satyanarayana V, Joshi, Hareesh, Trotman, Jamie, Elsey, Terence, Swamy, Ashwini, Rajkanna, Jeyanthy, Bhat, Nazir A, Haddadin, Firas J S, Oyibo, Samson O, Park, Soo-Mi
Foilsithe in Endocrinol Diabetes Metab Case Rep (2020)

Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings

le Sagi, Satyanarayana V, Joshi, Hareesh, Whiles, Emily, Hikmat, Mondy, Puthi, Vijith R, MacDougall, Jane, Spiden, Sarah L, Fuller, Gavin, Park, Soo-Mi, Oyibo, Samson O
Foilsithe in Endocrinol Diabetes Metab Case Rep (2020)

Breast cancer in multiple endocrine neoplasia type 1 (MEN1)

le Cheah, Seong Keat, Bisambar, Chad Ramese, Pitfield, Deborah, Giger, Olivier, Hoopen, Rogier ten, Martin, Jose-Ezequiel, Clark, Graeme R, Park, Soo-Mi, Parkinson, Craig, Challis, Benjamin G, Casey, Ruth T
Foilsithe in Endocrinol Diabetes Metab Case Rep (2021)

Neonatal Lethal Costello Syndrome and Unusual Dinucleotide Deletion/Insertion Mutations in HRAS Predicting p.Gly12Val

le Burkitt-Wright, Emma MM, Bradley, Lisa, Shorto, Jennifer, McConnell, Vivienne PM, Gannon, Caroline, Firth, Helen V, Park, Soo-Mi, D'Amore, Angela, Munyard, Paul F, Turnpenny, Peter D, Charlton, Amanda, Wilson, Meredith, Kerr, Bronwyn
Foilsithe in Am J Med Genet A (2012)

Management of primary hyperparathyroidism in pregnancy: a case series

le McCarthy, Aisling, Howarth, Sophie, Khoo, Serena, Hale, Julia, Oddy, Sue, Halsall, David, Fish, Brian, Mariathasan, Sashi, Andrews, Katrina, Oyibo, Samson O, Samyraju, Manjula, Gajewska-Knapik, Katarzyna, Park, Soo-Mi, Wood, Diana, Moran, Carla, Casey, Ruth T
Foilsithe in Endocrinol Diabetes Metab Case Rep (2019)

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

le Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Parker, Michael J., Archer, Hayley, Firth, Helen V., Park, Soo-Mi, Canham, Natalie, Holder, Susan E., Wilson, Meredith, Hackett, Anna, Field, Michael, Floyd, James A.B., Hurles, Matthew, Raymond, F. Lucy
Foilsithe 2014

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome

le Olley, Gabrielle, Ansari, Morad, Bengani, Hemant, Grimes, Graeme R, Rhodes, James, von Kriegsheim, Alex, Blatnik, Ana, Stewart, Fiona J., Wakeling, Emma, Carroll, Nicola, Ross, Alison, Park, Soo-Mi, Bickmore, Wendy A, Pradeepa, Madapura M, FitzPatrick, David R
Foilsithe in Nat Genet (2018)

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

le Parker, Michael J., Fryer, Alan E., Shears, Deborah J., Lachlan, Katherine L., McKee, Shane A., Magee, Alex C., Mohammed, Shehla, Vasudevan, Pradeep C., Park, Soo‐Mi, Benoit, Valérie, Lederer, Damien, Maystadt, Isabelle, study, DDD, FitzPatrick, David R.
Foilsithe in Am J Med Genet A (2015)

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

le McKie, Arthur B, Alsaedi, Atif, Vogt, Julie, Stuurman, Kyra E, Weiss, Marjan M, Shakeel, Hassan, Tee, Louise, Morgan, Neil V, Nikkels, Peter G J, van Haaften, Gijs, Park, Soo-Mi, van der Smagt, Jasper J, Bugiani, Marianna, Maher, Eamonn R
Foilsithe in Acta Neuropathol Commun (2014)

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to...

le Lax, Nichola Z., Alston, Charlotte L., Schon, Katherine, Park, Soo-Mi, Krishnakumar, Deepa, He, Langping, Falkous, Gavin, Ogilvy-Stuart, Amanda, Lees, Christoph, King, Rosalind H., Hargreaves, Iain P., Brown, Garry K., McFarland, Robert, Dean, Andrew F., Taylor, Robert W.
Foilsithe in J Neuropathol Exp Neurol (2015)