E-LIB Suche - Ergebnisse für: Cranston, Treena

1

Secondary (additional) findings from the 100,000 Genomes Pr..:

Nolan, Joshua ; Buchanan, James ; Taylor, John...
Genetics in Medicine. 26 (2024) 3 - p. 101051 , 2024

Link: https://doi.org/10.1016/..

2

Spectrum of germline AIRE mutations causing APS-1 and famil..:

Cranston, Treena ; Boon, Hannah ; Olesen, Mie K...
European Journal of Endocrinology. 187 (2022) 1 - p. 111-122 , 2022

Link: https://doi.org/10.1530/..

3

UK recommendations forSDHAgermline genetic testing and surv..:

Hanson, Helen ; Durkie, Miranda ; Lalloo, Fiona...
Journal of Medical Genetics. 60 (2022) 2 - p. 107-111 , 2022

Link: https://doi.org/10.1136/..

4

Corrigendum to 'Multiple endocrine neoplasia type 1 in chil..:

Shariq, Omair A. ; Lines, Kate E. ; English, Katherine A....
Surgery. 171 (2022) 6 - p. 1708-1711 , 2022

Link: https://doi.org/10.1016/..

5

Multiple endocrine neoplasia type 1 in children and adolesc..:

Shariq, Omair A. ; Lines, Kate E. ; English, Katherine A....
Surgery. 171 (2022) 1 - p. 77-87 , 2022

Link: https://doi.org/10.1016/..

6

Neonatal Hypocalcemic Seizures in Offspring of a Mother Wit..:

Dharmaraj, Poonam ; Gorvin, Caroline M ; Soni, Astha...
The Journal of Clinical Endocrinology & Metabolism. 105 (2020) 5 - p. 1393-1400 , 2020

Link: https://doi.org/10.1210/..

7

Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to..:

Lines, Kate E ; Nachtigall, Lisa B ; Dichtel, Laura E...
Journal of the Endocrine Society. 4 (2020) 11 - p. , 2020

Link: https://doi.org/10.1210/..

8

SAT-404 Neonatal Hypocalcemic Seizures in Offspring of a Mo..:

Thakker, Rajesh V ; Cranston, Treena ; Boon, Hannah...
Journal of the Endocrine Society. 4 (2020) Supplement_1 - p. , 2020

Link: https://doi.org/10.1210/..

9

Multiple Endocrine Neoplasia Type 1 (MEN1) 5′UTR Deletion, ..:

Kooblall, Kreepa G ; Boon, Hannah ; Cranston, Treena...
Journal of Bone and Mineral Research. 36 (2020) 1 - p. 100-109 , 2020

Link: https://doi.org/10.1002/..

10

GNA11 Variants Identified in Patients with Hypercalcemia or..:

Howles, Sarah A. ; Gorvin, Caroline M. ; Cranston, Treena...
Journal of Bone and Mineral Research. 38 (2020) 6 - p. 907-917 , 2020

Link: https://doi.org/10.1002/..

11

Cancer Variant Interpretation Group UK (CanVIG-UK): an exem..:

Garrett, Alice ; Callaway, Alison ; Durkie, Miranda...
Journal of Medical Genetics. 57 (2020) 12 - p. 829-834 , 2020

Link: https://doi.org/10.1136/..

12

MON-335 Phenocopy of Multiple Endocrine Neoplasia Type 1 (M..:

Lines, Kate ; Nachtigall, Lisa ; Dichtel, Laura...
Journal of the Endocrine Society. 3 (2019) Supplement_1 - p. , 2019

Link: https://doi.org/10.1210/..

13

Activating Mutations of the G-protein Subunit α 11 Interdom..:

Gorvin, Caroline M ; Stokes, Victoria J ; Boon, Hannah...
The Journal of Clinical Endocrinology & Metabolism. 105 (2019) 3 - p. 952-963 , 2019

Link: https://doi.org/10.1210/..

14

Calcium-sensing receptor residues with loss- and gain-of-fu..:

Gorvin, Caroline M ; Frost, Morten ; Malinauskas, Tomas...
Human Molecular Genetics. 27 (2018) 21 - p. 3720-3733 , 2018

Link: https://doi.org/10.1093/..

15

Routine genetic screening with a multi-gene panel in patien..:

Sbardella, Emilia ; Cranston, Treena ; Isidori, Andrea M....
Endocrine. 59 (2017) 1 - p. 175-182 , 2017

Link: https://doi.org/10.1007/..