The SARS‐CoV‐2 pandemic is associated with increased severity of presentation of childhood onset type 1 diabetes mellitus: A multi‐centre study of the first COVID‐19 wave von McGlacken‐Byrne, Sinéad M., Drew, Samantha E. V., Turner, Kelly, Peters, Catherine, Amin, Rakesh

Volltext

Characterising approaches to steroid therapy in paediatric multisystem inflammatory syndrome temporally associated with SARS‐CoV‐2 von McGlacken‐Byrne, Sinéad M, Johnson, Mae, Penner, Justin, Pré, Pascale, Katugampola, Harshini

Volltext

Premature ovarian insufficiency von McGlacken-Byrne, Sinéad M., Conway, Gerard S.

Volltext

A realist synthesis of multicentre comparative audit implementation: exploring what works and in which healthcare contexts von McGlacken-Byrne, Sinéad M, Murphy, Nuala P, Barry, Sarah

Volltext

ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency von McGlacken-Byrne, Sinéad M, Le Quesne Stabej, Polona, Del Valle, Ignacio, Ocaka, Louise, Gagunashvili, Andrey, Crespo, Berta, Moreno, Nadjeda, James, Chela, Bacchelli, Chiara, Dattani, Mehul T, Williams, Hywel J, Kelberman, Dan, Achermann, John C, Conway, Gerard S

Volltext

Comment on: Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia. Report of a second case von Dorosh, Olha, Bodak, Khrystyna, Tsymbalyuk‐Voloshyn, Iryna, Makukh, Halyna, Kreminska, Olena, Hrytsiuk, Ihor, Battisti, Laura, Erlacher, Miriam, Wlodarski, Marcin, McGlacken‐Byrne, Sinead M, Achermann, John C, Niemeyer, Charlotte M, Yoshimi, Ayami

Volltext

Management of a Girl With Delayed Puberty and Elevated Gonadotropins von McGlacken-Byrne, Sinéad M, Achermann, John C, Conway, Gerard S

Volltext

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency von McGlacken-Byrne, Sinéad M, Del Valle, Ignacio, Quesne Stabej, Polona Le, Bellutti, Laura, Garcia-Alonso, Luz, Ocaka, Louise A, Ishida, Miho, Suntharalingham, Jenifer P, Gagunashvili, Andrey, Ogunbiyi, Olumide K, Mistry, Talisa, Buonocore, Federica, Crespo, Berta, Moreno, Nadjeda, Niola, Paola, Brooks, Tony, Brain, Caroline E, Dattani, Mehul T, Kelberman, Daniel, Vento-Tormo, Roser, Lagos, Carlos F, Livera, Gabriel, Conway, Gerard S, Achermann, John C

Volltext

Identification of Leptomeningeal Medulloblastoma with Contrast‐Enhanced Magnetic Resonance Imaging: A Devastating Differential of Acute Disseminated Encephomyelitis von McGlacken‐Byrne, Sinead M, Gorman, Kathleen M, Lagan, Niamh K, Robinson, Ian, Farrell, Michael, King, Mary D

Volltext

Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia von McGlacken-Byrne, Sinéad M, Mohammad, Jasmina Kallefullah, Conlon, Niamh, Gubaeva, Diliara, Siersbæk, Julie, Schou, Anders Jørgen, Demirbilek, Huseyin, Dastamani, Antonia, Houghton, Jayne A L, Brusgaard, Klaus, Melikyan, Maria, Christesen, Henrik, Flanagan, Sarah E, Murphy, Nuala P, Shah, Pratik

Volltext

Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing’s syndrome and acral cutaneous mucinosis von McGlacken-Byrne, Sinéad M, Abdelmaksoud, Ashraf, Haini, Mohammad, Palm, Liina, Ashworth, Michael, Li, Juan, Wang, Wei, Wang, Xiumin, Wang, Jian, Callaghan, Bridget, Kinsler, Veronica A., Faravelli, Francesca, Dattani, Mehul T

Volltext

Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant von Buonocore, Federica, McGlacken-Byrne, Sinead M., del Valle, Ignacio, Achermann, John C.

Volltext

Analysis of genetic variability in Turner syndrome linked to long-term clinical features von Suntharalingham, Jenifer P, Ishida, Miho, Cameron-Pimblett, Antoinette, McGlacken-Byrne, Sinead M, Buonocore, Federica, Del Valle, Ignacio, Madhan, Gaganjit Kaur, Brooks, Tony, Conway, Gerard S, Achermann, John C

Volltext

An integrated single-cell analysis of human adrenal cortex development von Del Valle, Ignacio, Young, Matthew D, Kildisiute, Gerda, Ogunbiyi, Olumide K, Buonocore, Federica, Simcock, Ian C, Khabirova, Eleonora, Crespo, Berta, Moreno, Nadjeda, Brooks, Tony, Niola, Paola, Swarbrick, Katherine, Suntharalingham, Jenifer P, McGlacken-Byrne, Sinead M, Arthurs, Owen J, Behjati, Sam, Achermann, John C

Volltext

Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency von Akin, Leyla, Rizzoti, Karine, Gregory, Louise C., Corredor, Beatriz, Le Quesne Stabej, Polona, Williams, Hywel, Buonocore, Federica, Mouilleron, Stephane, Capra, Valeria, McGlacken-Byrne, Sinead M., Martos-Moreno, Gabriel Á., Azmanov, Dimitar N., Kendirci, Mustafa, Kurtoglu, Selim, Suntharalingham, Jenifer P., Galichet, Christophe, Gustincich, Stefano, Tasic, Velibor, Achermann, John C., Accogli, Andrea, Filipovska, Aleksandra, Tuilpakov, Anatoly, Maghnie, Mohamad, Gucev, Zoran, Gonen, Zeynep Burcin, Pérez-Jurado, Luis A., Robinson, Iain, Lovell-Badge, Robin, Argente, Jesús, Dattani, Mehul T.

Volltext

Genetic mechanisms of human ovary development and function: A life course approach von McGlacken-Byrne, Sinéad M

Volltext bestellen

Management of a girl with delayed puberty and elevated gonadotropins von McGlacken-Byrne, Sinéad M, Achermann, John C, Conway, Gerard S

Volltext bestellen

Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing syndrome and acral cutaneous mucinosis von McGlacken-Byrne, Sinead M, Abdelmaksoud, Ashraf, Haini, Mohammad, Palm, Liina, Ashworth, Michael, Li, Juan, Wang, Wei, Wang, Xiumin, Wang, Jian, Callaghan, Bridget, Kinsler, Veronica A, Faravelli, Francesca, Dattani, Mehul T

Volltext

Analysis of genetic variability in Turner syndrome linked to long-term clinical features von Suntharalingham, Jenifer P, Ishida, Miho, Cameron-Pimblett, Antoinette, McGlacken-Byrne, Sinead M, Buonocore, Federica, Del Valle, Ignacio, Madhan, Gaganjit Kaur, Brooks, Tony, Conway, Gerard S, Achermann, John C

Volltext bestellen

An integrated single-cell analysis of human adrenal cortex development von Del Valle, Ignacio, Young, Matthew D, Kildisiute, Gerda, Ogunbiyi, Olumide K, Buonocore, Federica, Simcock, Ian C, Khabirova, Eleonora, Crespo, Berta, Moreno, Nadjeda, Brooks, Tony, Niola, Paola, Swarbrick, Katherine, Suntharalingham, Jenifer P, McGlacken-Byrne, Sinead M, Arthurs, Owen J, Behjati, Sam, Achermann, John C

Volltext bestellen