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Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1. [electronic resource] by
- Gopal-Kothandapani, Jaya Sujatha
- Doshi, Arpan B
- Smith, Kath
- Christian, Martin
- Mushtaq, Talat
- Banerjee, I
- Padidela, Raja
- Ramakrishnan, Renuka
- Owen, Catherine
- Cheetham, Timothy
- Dimitri, Paul
Producer: 20200212
In:
Journal of pediatric endocrinology & metabolism : JPEM vol. 32
Availability: No items available.
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13.
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Growth and metabolic outcome in adolescents born preterm (GROWMORE): follow-up protocol for the Newcastle Preterm Birth GRowth study (PTBGS). [electronic resource] by
- Wood, Claire L
- Tinnion, Robert J
- Korada, S Murthy
- Cheetham, Timothy D
- Relton, Caroline L
- Cooke, Richard J
- Pearce, Mark S
- Hollingsworth, Kieren G
- Trenell, Michael I
- Embleton, Nicholas D
Producer: 20140802
In:
BMC pediatrics vol. 13
Availability: No items available.
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14.
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Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility. [electronic resource] by
- Sutherland, Alison
- Davies, Jocelyn
- Owen, Catherine J
- Vaikkakara, Suresh
- Walker, Christine
- Cheetham, Timothy D
- James, R Andrew
- Perros, Petros
- Donaldson, Peter T
- Cordell, Heather J
- Quinton, Richard
- Pearce, Simon H S
Producer: 20070917
In:
The Journal of clinical endocrinology and metabolism vol. 92
Availability: No items available.
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15.
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Measurement of Salivary Adrenal-Specific Androgens as Biomarkers of Therapy Control in 21-Hydroxylase Deficiency. [electronic resource] by
- Bacila, Irina
- Adaway, Jo
- Hawley, James
- Mahdi, Sundus
- Krone, Ruth
- Patel, Leena
- Alvi, Sabah
- Randell, Tabitha
- Gevers, Evelien
- Dattani, Mehul
- Cheetham, Timothy
- Kyriakou, Andreas
- Schiffer, Lina
- Ryan, Fiona
- Crowne, Elizabeth
- Davies, Justin H
- Ahmed, Syed Faisal
- Keevil, Brian
- Krone, Nils
Producer: 20200604
In:
The Journal of clinical endocrinology and metabolism vol. 104
Availability: No items available.
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16.
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Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency. [electronic resource] by
- Alatzoglou, Kyriaki S
- Turton, James P
- Kelberman, Daniel
- Clayton, Peter E
- Mehta, Ameeta
- Buchanan, Charles
- Aylwin, Simon
- Crowne, Elisabeth C
- Christesen, Henrik T
- Hertel, Niels T
- Trainer, Peter J
- Savage, Martin O
- Raza, Jamal
- Banerjee, Kausik
- Sinha, Sunil K
- Ten, Svetlana
- Mushtaq, Talat
- Brauner, Raja
- Cheetham, Timothy D
- Hindmarsh, Peter C
- Mullis, Primus E
- Dattani, Mehul T
Producer: 20090923
In:
The Journal of clinical endocrinology and metabolism vol. 94
Availability: No items available.
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17.
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An ancient founder mutation in PROKR2 impairs human reproduction. [electronic resource] by
- Avbelj Stefanija, Magdalena
- Jeanpierre, Marc
- Sykiotis, Gerasimos P
- Young, Jacques
- Quinton, Richard
- Abreu, Ana Paula
- Plummer, Lacey
- Au, Margaret G
- Balasubramanian, Ravikumar
- Dwyer, Andrew A
- Florez, Jose C
- Cheetham, Timothy
- Pearce, Simon H
- Purushothaman, Radhika
- Schinzel, Albert
- Pugeat, Michel
- Jacobson-Dickman, Elka E
- Ten, Svetlana
- Latronico, Ana Claudia
- Gusella, James F
- Dode, Catherine
- Crowley, William F
- Pitteloud, Nelly
Producer: 20130314
In:
Human molecular genetics vol. 21
Availability: No items available.
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18.
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GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1. [electronic resource] by
- Chan, Yee-Ming
- Broder-Fingert, Sarabeth
- Paraschos, Sophia
- Lapatto, Risto
- Au, Margaret
- Hughes, Virginia
- Bianco, Suzy D C
- Min, Le
- Plummer, Lacey
- Cerrato, Felecia
- De Guillebon, Adelaide
- Wu, I-Hsuan
- Wahab, Fazal
- Dwyer, Andrew
- Kirsch, Susan
- Quinton, Richard
- Cheetham, Timothy
- Ozata, Metin
- Ten, Svetlana
- Chanoine, Jean-Pierre
- Pitteloud, Nelly
- Martin, Kathryn A
- Schiffmann, Raphael
- Van der Kamp, Hetty J
- Nader, Shahla
- Hall, Janet E
- Kaiser, Ursula B
- Seminara, Stephanie B
Producer: 20111223
In:
The Journal of clinical endocrinology and metabolism vol. 96
Availability: No items available.
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19.
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Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. [electronic resource] by
- Iacovazzo, Donato
- Caswell, Richard
- Bunce, Benjamin
- Jose, Sian
- Yuan, Bo
- Hernández-Ramírez, Laura C
- Kapur, Sonal
- Caimari, Francisca
- Evanson, Jane
- Ferraù, Francesco
- Dang, Mary N
- Gabrovska, Plamena
- Larkin, Sarah J
- Ansorge, Olaf
- Rodd, Celia
- Vance, Mary L
- Ramírez-Renteria, Claudia
- Mercado, Moisés
- Goldstone, Anthony P
- Buchfelder, Michael
- Burren, Christine P
- Gurlek, Alper
- Dutta, Pinaki
- Choong, Catherine S
- Cheetham, Timothy
- Trivellin, Giampaolo
- Stratakis, Constantine A
- Lopes, Maria-Beatriz
- Grossman, Ashley B
- Trouillas, Jacqueline
- Lupski, James R
- Ellard, Sian
- Sampson, Julian R
- Roncaroli, Federico
- Korbonits, Márta
Producer: 20171025
In:
Acta neuropathologica communications vol. 4
Availability: No items available.
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20.
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Predicted Benign and Synonymous Variants in [electronic resource] by
- Maharaj, Avinaash
- Buonocore, Federica
- Meimaridou, Eirini
- Ruiz-Babot, Gerard
- Guasti, Leonardo
- Peng, Hwei-Ming
- Capper, Cameron P
- Burgos-Tirado, Neikelyn
- Prasad, Rathi
- Hughes, Claire R
- Maudhoo, Ashwini
- Crowne, Elizabeth
- Cheetham, Timothy D
- Brain, Caroline E
- Suntharalingham, Jenifer P
- Striglioni, Niccolò
- Yuksel, Bilgin
- Gurbuz, Fatih
- Gupta, Sangay
- Lindsay, Robert
- Couch, Robert
- Spoudeas, Helen A
- Guran, Tulay
- Johnson, Stephanie
- Fowler, Dallas J
- Conwell, Louise S
- McInerney-Leo, Aideen M
- Drui, Delphine
- Cariou, Bertrand
- Lopez-Siguero, Juan P
- Harris, Mark
- Duncan, Emma L
- Hindmarsh, Peter C
- Auchus, Richard J
- Donaldson, Malcolm D
- Achermann, John C
- Metherell, Louise A
Publication details: Journal of the Endocrine Society Jan 2019
In:
Journal of the Endocrine Society vol. 3
Availability: No items available.
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