Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases von Ioannides, Yiannis, Lokulo-Sodipe, Kemi, Mackay, Deborah J G, Davies, Justin H, Temple, I Karen

Volltext

Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing von Lardelli, Rea M, Schaffer, Ashleigh E, Eggens, Veerle R C, Zaki, Maha S, Grainger, Stephanie, Sathe, Shashank, Van Nostrand, Eric L, Schlachetzki, Zinayida, Rosti, Basak, Akizu, Naiara, Scott, Eric, Silhavy, Jennifer L, Heckman, Laura Dean, Rosti, Rasim Ozgur, Dikoglu, Esra, Gregor, Anne, Guemez-Gamboa, Alicia, Musaev, Damir, Mande, Rohit, Widjaja, Ari, Shaw, Tim L, Markmiller, Sebastian, Marin-Valencia, Isaac, Davies, Justin H, de Meirleir, Linda, Kayserili, Hulya, Altunoglu, Umut, Freckmann, Mary Louise, Warwick, Linda, Chitayat, David, Blaser, Susan, Çağlayan, Ahmet Okay, Bilguvar, Kaya, Per, Huseyin, Fagerberg, Christina, Christesen, Henrik T, Kibaek, Maria, Aldinger, Kimberly A, Manchester, David, Matsumoto, Naomichi, Muramatsu, Kazuhiro, Saitsu, Hirotomo, Shiina, Masaaki, Ogata, Kazuhiro, Foulds, Nicola, Dobyns, William B, Chi, Neil C, Traver, David, Spaccini, Luigina, Bova, Stefania Maria, Gabriel, Stacey B, Gunel, Murat, Valente, Enza Maria, Nassogne, Marie-Cecile, Bennett, Eric J, Yeo, Gene W, Baas, Frank, Lykke-Andersen, Jens, Gleeson, Joseph G

Volltext

Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network von Eggermann, Thomas, Davies, Justin H, Tauber, Maithé, van den Akker, Erica, Hokken-Koelega, Anita, Johansson, Gudmundur, Netchine, Irène

Volltext

Advances in Diagnosis and Management of Childhood Osteoporosis von Lim, David B. N., Moon, Rebecca J., Davies, Justin H.

Volltext

Management of Gonads in Adults with Androgen Insensitivity: An International Survey von Tack, Lloyd J.W., Maris, Ellen, Looijenga, Leendert H.J., Hannema, Sabine E., Audi, Laura, Köhler, Birgit, Holterhus, Paul-Martin, Riedl, Stefan, Wisniewski, Amy , Flück, Christa E., Davies, Justin H., T'Sjoen, Guy, Lucas-Herald , Angela K., Evliyaoglu, Olcay, Krone, Nils, Iotova, Violeta, Marginean, Otilia, Balsamo, Antonio, Verkauskas, Gilvydas, Weintrob, Naomi, Ellaithi, Mona, Nordenström, Anna, Verrijn Stuart , Annemarie, Kluivers, Kirsten B., Wolffenbuttel, Katja P., Ahmed, S. Faisal, Cools, Martine

Volltext

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome von Brightman, Diana S., Lokulo-Sodipe, Oluwakemi, Searle, Beverly A., Mackay, Deborah J.G., Davies, Justin H., Temple, I. Karen, Dauber, Andrew

Volltext

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis von Mackay, Deborah J G, Gazdagh, Gabriella, Monk, David, Brioude, Frederic, Giabicani, Eloise, Krzyzewska, Izabela M, Kalish, Jennifer M, Maas, Saskia M, Kagami, Masayo, Beygo, Jasmin, Kahre, Tiina, Tenorio-Castano, Jair, Ambrozaitytė, Laima, Burnytė, Birutė, Cerrato, Flavia, Davies, Justin H, Ferrero, Giovanni Battista, Fjodorova, Olga, Manero-Azua, Africa, Pereda, Arrate, Russo, Silvia, Tannorella, Pierpaola, Temple, Karen I, Õunap, Katrin, Riccio, Andrea, de Nanclares, Guiomar Perez, Maher, Eamonn R, Lapunzina, Pablo, Netchine, Irène, Eggermann, Thomas, Bliek, Jet, Tümer, Zeynep

Volltext

The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres von Persani, Luca, Cools, Martine, Ioakim, Stamatina, Faisal Ahmed, S, Andonova, Silvia, Avbelj-Stefanija, Magdalena, Baronio, Federico, Bouligand, Jerome, Bruggenwirth, Hennie T, Davies, Justin H, De Baere, Elfride, Dzivite-Krisane, Iveta, Fernandez-Alvarez, Paula, Gheldof, Alexander, Giavoli, Claudia, Gravholt, Claus H, Hiort, Olaf, Holterhus, Paul-Martin, Juul, Anders, Krausz, Csilla, Lagerstedt-Robinson, Kristina, McGowan, Ruth, Neumann, Uta, Novelli, Antonio, Peyrassol, Xavier, Phylactou, Leonidas A, Rohayem, Julia, Touraine, Philippe, Westra, Dineke, Vezzoli, Valeria, Rossetti, Raffaella

Volltext

Inequalities in the assessment of childhood short stature von Davies, Justin H, Child, Jenny, Freer, Joseph, Storr, Helen L

Volltext

Assessment of childhood short stature: a GP guide von Storr, Helen L, Freer, Joseph, Child, Jenny, Davies, Justin H

Volltext

Vitamin D, and Maternal and Child Health von Moon, Rebecca J., Davies, Justin H., Cooper, Cyrus, Harvey, Nicholas C.

Volltext

How close is the dose? Manipulation of 10 mg hydrocortisone tablets to provide appropriate doses to children von Watson, Cameron, Webb, Emma A, Kerr, Stephanie, Davies, Justin H., Stirling, Heather, Batchelor, Hannah

Volltext

Approach to the Patient With Suspected Silver-Russell Syndrome von Kurup, Uttara, Lim, David B N, Palau, Helena, Maharaj, Avinaash V, Ishida, Miho, Davies, Justin H, Storr, Helen L

Volltext

Isolated 17, 20 Lyase Deficiency Secondary to a Novel CYB5A Variant: Comparison of Steroid Metabolomic Findings with Published Cases Provides Diagnostic Guidelines and Greater Insi... von Shaunak, Meera, Taylor, Norman F., Hunt, David, Davies, Justin H.

Volltext

Investigation and management of tall stature von Davies, Justin H, Cheetham, Tim

Volltext

Is the skull responsive to bone mineralisation stimuli in children? von Moon, Rebecca J., D'Angelo, Stefania, Crozier, Sarah R., Godfrey, Keith M., Davies, Justin H., Cooper, Cyrus, Harvey, Nicholas C.

Volltext

Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome von Lokulo-Sodipe, Oluwakemi, Inskip, Hazel M, Byrne, Christopher D, Child, Jenny, Wakeling, Emma L, Mackay, Deborah J G, Temple, I Karen, Davies, Justin H

Volltext

Adjuvant Rituximab-Exploratory Trial in Young People With Graves Disease von Cheetham, Tim D, Cole, Michael, Abinun, Mario, Allahabadia, Amit, Barratt, Tim, Davies, Justin H, Dimitri, Paul, Drake, Amanda, Mohamed, Zainaba, Murray, Robert D, Steele, Caroline A, Zammitt, Nicola, Carnell, Sonya, Prichard, Jonathan, Watson, Gillian, Hambleton, Sophie, Matthews, John N S, Pearce, Simon H S

Volltext

Measurement of salivary adrenal-specific androgens as biomarkers of therapy control in 21-hydroxylase deficiency von 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

Volltext

Quality of Life in Children and Young People With Congenital Adrenal Hyperplasia—UK Nationwide Multicenter Assessment von Lawrence, Neil Richard, Bacila, Irina, Dawson, Jeremy, Mahdi, Sundus, Alvi, Sabah, Cheetham, Timothy D, Crowne, Elizabeth, Das, Urmi, Dattani, Mehul Tulsidas, Davies, Justin H, Gevers, Evelien, Krone, Ruth E, Patel, Leena, Randell, Tabitha, Ryan, Fiona J, Keevil, Brian, Ahmed, S Faisal, Krone, Nils P

Volltext