Výsledky vyhledávání - Assunta Albanese
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Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1/Ad4BP, NR5A1) Are Associated with 46,XY Disorders of Sex Development with Normal Adrenal Function Autor Lin Lin, Pascal Philibert, Bruno Ferraz‐de‐Souza, Daniel Kelberman, Tessa Homfray, Assunta Albanese, Veruska Molini, Neil J. Sebire, Silvia Einaudi, Gerard S. Conway, Ieuan A. Hughes, J. Larry Jameson, Charles Sultan, Mehul Dattani, John C. Achermann
Vydáno 2007Artigo -
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Organ‐specific management and supportive care in chronic graft‐versus‐host disease Autor Fiona L. Dignan, Julia Scarisbrick, Jacqueline Cornish, Andrew Clark, Persis Amrolia, Graham Jackson, Prem Mahendra, Peter C. Taylor, Pallav L. Shah, Susan Lightman, Farida Fortune, Christopher C. Kibbler, Jervoise Andreyev, Assunta Albanese, Nedim Hadžić, Michael Potter, Bronwen E. Shaw
Vydáno 2012Artigo -
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National UK guidelines for the management of paediatric craniopharyngioma Autor Hoong‐Wei Gan, Paul Morillon, Assunta Albanese, Kristian Aquilina, Chris Chandler, Yen-Ching Chang, Evangelos Drimtzias, Sarah Farndon, Thomas S. Jacques, Márta Korbonits, Adam M. Kuczynski, Jennifer Limond, Louise Robinson, Ian Simmons, N. Thomas, Sophie Thomas, Nicky Thorp, Faraneh Vargha‐Khadem, Daniel Warren, Bassel Zebian, Conor Mallucci, Helen Spoudeas
Vydáno 2023Revisão -
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A Mutation in the Thyroid Hormone Receptor Alpha Gene Autor Elena G. Bochukova, Nadia Schoenmakers, Maura Agostini, Erik Schoenmakers, Odelia Rajanayagam, Julia M. Keogh, Elana Henning, Jana Reinemund, Evelien Gevers, Margarita Sarri, Kate Downes, Amaka C Offiah, Assunta Albanese, David Halsall, John W. R. Schwabe, Murray Bain, Keith Lindley, Francesco Muntoni, Faraneh Vargha‐Khadem, Mehul Dattani, I. Sadaf Farooqi, Mark Gurnell, Krishna Chatterjee
Vydáno 2011Artigo -
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Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ Autor Adeline K. Nicholas, Eva Serra, Hakan Cangül, Saif Al-Yaarubi, Irfan Ullah, Erik Schoenmakers, Asma Deeb, Abdelhadi Habeb, Mohammad S. Al-Maghamsi, Catherine Peters, Nisha Nathwani, Zehra Aycan, Halil Sağlam, Ece Böber, Mehul Dattani, Savitha Shenoy, Philip Murray, Amir Babiker, Ruben H. Willemsen, Ajay Thankamony, Greta Lyons, Rachael Irwin, Raja Padidela, Kavitha Tharian, Justin H. Davies, Vijith Puthi, Soo‐Mi Park, Ahmed F. Massoud, John W Gregory, Assunta Albanese, Evelien Pease-Gevers, Howard Martin, Kim Brügger, Eamonn R. Maher, Krishna Chatterjee, Carl A. Anderson, Nadia Schoenmakers
Vydáno 2016Artigo -
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Recommendations for Premature Ovarian Insufficiency Surveillance for Female Survivors of Childhood, Adolescent, and Young Adult Cancer: A Report From the International Late Effects... Autor Wendy van Dorp, Renée L. Mulder, Leontien C.M. Kremer, Melissa M. Hudson, Marry M. van den Heuvel‐Eibrink, M. van den Berg, Jennifer Levine, Eline van Dulmen‐den Broeder, Natascia Di Iorgi, Assunta Albanese, Saro H. Armenian, Smita Bhatia, Louis S. Constine, A Corrias, Rebecca Deans, Uta Dirksen, Clarisa R. Gracia, Lars Hjorth, Leah Kroon, Cornelis B. Lambalk, Wendy Landier, Gill Levitt, Alison Leiper, Lillian R. Meacham, A. Mussa, Sebastian Neggers, Kevin C. Oeffinger, Alberto Revelli, Hanneke M. van Santen, Roderick Skinner, Andrew Toogood, William H. Wallace, Riccardo Haupt
Vydáno 2016Revisão
Vyhledávací nástroje:
Související témata
Medicine
Internal medicine
Intensive care medicine
Biology
Cancer
Endocrinology
Gene
Genetics
Hormone
Pathology
Pediatrics
Childhood cancer
Family medicine
Guideline
Missense mutation
Mutation
Phenotype
Thyroid
Acoustics
Antidiuretic
Breast cancer
Congenital hypothyroidism
Craniopharyngioma
Diabetes insipidus
Diabetes mellitus
Differential diagnosis
Disease
Disorders of sex development
Electrolyte Disorder
Endocrine system