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Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders. [electronic resource] by
- Truelove, Adam
- Mulay, Akhilesh
- Prapa, Matina
- Casey, Ruth T
- Adler, Amanda I
- Offiah, Amaka C
- Poole, Kenneth E S
- Trotman, Jamie
- Al Hasso, Namir
- Park, Soo-Mi
Producer: 20200708
In:
American journal of medical genetics. Part A vol. 179
Availability: No items available.
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7.
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Management of primary hyperparathyroidism in pregnancy: a case series. [electronic resource] by
- 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
Publication details: Endocrinology, diabetes & metabolism case reports May 2019
In:
Endocrinology, diabetes & metabolism case reports vol. 2019
Availability: No items available.
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8.
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Adult-onset hyperinsulinaemic hypoglycaemia in clinical practice: diagnosis, aetiology and management. [electronic resource] by
- Challis, Benjamin G
- Powlson, Andrew S
- Casey, Ruth T
- Pearson, Carla
- Lam, Brian Y
- Ma, Marcella
- Pitfield, Deborah
- Yeo, Giles S H
- Godfrey, Edmund
- Cheow, Heok K
- Chatterjee, V Krishna
- Carroll, Nicholas R
- Shaw, Ashley
- Buscombe, John R
- Simpson, Helen L
Publication details: Endocrine connections Oct 2017
In:
Endocrine connections vol. 6
Availability: No items available.
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Translating [electronic resource] by
- Casey, Ruth T
- McLean, Mary A
- Madhu, Basetti
- Challis, Benjamin G
- Ten Hoopen, Rogier
- Roberts, Thomas
- Clark, Graeme R
- Pittfield, Deborah
- Simpson, Helen L
- Bulusu, Venkata R
- Allinson, Kieran
- Happerfield, Lisa
- Park, Soo-Mi
- Marker, Alison
- Giger, Olivier
- Maher, Eamonn R
- Gallagher, Ferdia A
Publication details: JCO precision oncology Mar 2018
In:
JCO precision oncology vol. 2
Availability: No items available.
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10.
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SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice. [electronic resource] by
- Casey, Ruth T
- Ten Hoopen, Rogier
- Ochoa, Eguzkine
- Challis, Benjamin G
- Whitworth, James
- Smith, Philip S
- Martin, Jose Ezequiel
- Clark, Graeme R
- Rodger, Fay
- Maranian, Mel
- Allinson, Kieren
- Madhu, Basetti
- Roberts, Thomas
- Campos, Luis
- Anstee, Joanne
- Park, Soo-Mi
- Marker, Alison
- Watts, Colin
- Bulusu, Venkata R
- Giger, Olivier T
- Maher, Eamonn R
Producer: 20201113
In:
Scientific reports vol. 9
Availability: No items available.
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11.
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SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity. [electronic resource] by
- Casey, Ruth T
- Ascher, David B
- Rattenberry, Eleanor
- Izatt, Louise
- Andrews, Katrina A
- Simpson, Helen L
- Challis, Benjamen
- Park, Soo-Mi
- Bulusu, Venkata R
- Lalloo, Fiona
- Pires, Douglas E V
- West, Hannah
- Clark, Graeme R
- Smith, Philip S
- Whitworth, James
- Papathomas, Thomas G
- Taniere, Phillipe
- Savisaar, Rosina
- Hurst, Laurence D
- Woodward, Emma R
- Maher, Eamonn R
Publication details: Molecular genetics & genomic medicine May 2017
In:
Molecular genetics & genomic medicine vol. 5
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12.
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Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review. [electronic resource] by
- Casey, Ruth T
- Warren, Anne Y
- Martin, Jose Ezequiel
- Challis, Benjamin G
- Rattenberry, Eleanor
- Whitworth, James
- Andrews, Katrina A
- Roberts, Thomas
- Clark, Graeme R
- West, Hannah
- Smith, Philip S
- Docquier, France M
- Rodger, Fay
- Murray, Vicki
- Simpson, Helen L
- Wallis, Yvonne
- Giger, Olivier
- Tran, Maxine
- Tomkins, Susan
- Stewart, Grant D
- Park, Soo-Mi
- Woodward, Emma R
- Maher, Eamonn R
Producer: 20171204
In:
The Journal of clinical endocrinology and metabolism vol. 102
Availability: No items available.
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13.
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CT Characteristics of Pheochromocytoma: Relevance for the Evaluation of Adrenal Incidentaloma. [electronic resource] by
- Canu, Letizia
- Van Hemert, Janna A W
- Kerstens, Michiel N
- Hartman, Robert P
- Khanna, Aakanksha
- Kraljevic, Ivana
- Kastelan, Darko
- Badiu, Corin
- Ambroziak, Urszula
- Tabarin, Antoine
- Haissaguerre, Magalie
- Buitenwerf, Edward
- Visser, Anneke
- Mannelli, Massimo
- Arlt, Wiebke
- Chortis, Vasileios
- Bourdeau, Isabelle
- Gagnon, Nadia
- Buchy, Marie
- Borson-Chazot, Francoise
- Deutschbein, Timo
- Fassnacht, Martin
- Hubalewska-Dydejczyk, Alicja
- Motyka, Marcin
- Rzepka, Ewelina
- Casey, Ruth T
- Challis, Benjamin G
- Quinkler, Marcus
- Vroonen, Laurent
- Spyroglou, Ariadni
- Beuschlein, Felix
- Lamas, Cristina
- Young, William F
- Bancos, Irina
- Timmers, Henri J L M
Producer: 20191206
In:
The Journal of clinical endocrinology and metabolism vol. 104
Availability: No items available.
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14.
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Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes [electronic resource] by
- Andrews, Katrina A
- Ascher, David B
- Pires, Douglas Eduardo Valente
- Barnes, Daniel R
- Vialard, Lindsey
- Casey, Ruth T
- Bradshaw, Nicola
- Adlard, Julian
- Aylwin, Simon
- Brennan, Paul
- Brewer, Carole
- Cole, Trevor
- Cook, Jackie A
- Davidson, Rosemarie
- Donaldson, Alan
- Fryer, Alan
- Greenhalgh, Lynn
- Hodgson, Shirley V
- Irving, Richard
- Lalloo, Fiona
- McConachie, Michelle
- McConnell, Vivienne P M
- Morrison, Patrick J
- Murday, Victoria
- Park, Soo-Mi
- Simpson, Helen L
- Snape, Katie
- Stewart, Susan
- Tomkins, Susan E
- Wallis, Yvonne
- Izatt, Louise
- Goudie, David
- Lindsay, Robert S
- Perry, Colin G
- Woodward, Emma R
- Antoniou, Antonis C
- Maher, Eamonn R
Producer: 20190916
In:
Journal of medical genetics vol. 55
Availability: No items available.
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15.
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Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. [electronic resource] by
- Whitworth, James
- Smith, Philip S
- Martin, Jose-Ezequiel
- West, Hannah
- Luchetti, Andrea
- Rodger, Faye
- Clark, Graeme
- Carss, Keren
- Stephens, Jonathan
- Stirrups, Kathleen
- Penkett, Chris
- Mapeta, Rutendo
- Ashford, Sofie
- Megy, Karyn
- Shakeel, Hassan
- Ahmed, Munaza
- Adlard, Julian
- Barwell, Julian
- Brewer, Carole
- Casey, Ruth T
- Armstrong, Ruth
- Cole, Trevor
- Evans, Dafydd Gareth
- Fostira, Florentia
- Greenhalgh, Lynn
- Hanson, Helen
- Henderson, Alex
- Hoffman, Jonathan
- Izatt, Louise
- Kumar, Ajith
- Kwong, Ava
- Lalloo, Fiona
- Ong, Kai Ren
- Paterson, Joan
- Park, Soo-Mi
- Chen-Shtoyerman, Rakefet
- Searle, Claire
- Side, Lucy
- Skytte, Anne-Bine
- Snape, Katie
- Woodward, Emma R
- Tischkowitz, Marc D
- Maher, Eamonn R
Producer: 20190514
In:
American journal of human genetics vol. 103
Availability: No items available.
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