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Author/Creator Park, Soo-Mi

2. A novel CASR variant in a family with familial hypocalciuric hypercalcaemia and primary hyperparathyroidism. (23rd September 2020)

Authors:
V Sagi, Satyanarayana; Joshi, Hareesh; Trotman, Jamie; Elsey, Terence; Swamy, Ashwini; Rajkanna, Jeyanthy; A Bhat, Nazir; J S Haddadin, Firas; O Oyibo, Samson; Park, Soo-Mi
Journal:
Endocrinology, diabetes & metabolism case reports
Issue:
(2020)
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Record Type:
Journal Article
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3. A novel CASR variant in a family with familial hypocalciuric hypercalcaemia and primary hyperparathyroidism. (23rd September 2020)

Authors:
V Sagi, Satyanarayana; Joshi, Hareesh; Trotman, Jamie; Elsey, Terence; Swamy, Ashwini; Rajkanna, Jeyanthy; A Bhat, Nazir; J S Haddadin, Firas; O Oyibo, Samson; Park, Soo-Mi
Journal:
Endocrinology, diabetes & metabolism case reports
Issue:
(2020)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD). (9th February 2018)

Authors:
Hague, Jennifer; Casey, Ruth; Bruty, Jonathan; Legerton, Tom; Abbs, Stephen; Oddy, Susan; Powlson, Andrew S; Majeed, Mohamed; Gurnell, Mark; Park, Soo-Mi; Simpson, Helen
Journal:
Endocrinology, diabetes & metabolism case reports
Issue:
(2018)
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Record Type:
Journal Article
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8. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Issue 10 (14th August 2014)

Authors:
Ansari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hülya; Avci, Şahin; Hennekam, Raoul C M; Lampe, Anne K; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Falkenberg Smeland, Marie; Mansour, Sahar; Par...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 10(2014)
Page Start:
659
Record Type:
Journal Article
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9. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. Issue 1 (11th October 2017)

Authors:
Hamilton, Mark J; Caswell, Richard C; Canham, Natalie; Cole, Trevor; Firth, Helen V; Foulds, Nicola; Heimdal, Ketil; Hobson, Emma; Houge, Gunnar; Joss, Shelagh; Kumar, Dhavendra; Lampe, Anne Katrin; Maystadt, Isabelle; McKay, Victoria; Metcalfe, Kay; Newbury-Ecob, Ruth; Park, Soo-Mi; Robert, Leem...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 1(2018)
Page Start:
28
Record Type:
Journal Article
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10. Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation. (7th June 2017)

Authors:
Vasudevan, Pradeep; Powell, Corrina; Nicholas, Adeline K; Scudamore, Ian; Greening, James; Park, Soo-Mi; Schoenmakers, Nadia
Journal:
Endocrinology, diabetes & metabolism case reports
Issue:
(2017)
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Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗