Search Results - "monogenism"

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  1. 81
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    Successful use of ofatumumab in two cases of early-onset juvenile SLE with thrombocytopenia caused by a mutation in protein kinase C δ by Linda Lei, Sabina Muhammad, Muthana Al-Obaidi, Neil Sebire, Iek Leng Cheng, Despina Eleftheriou, Paul Brogan

    Published 2018
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  2. 82
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    Vasculitis in Systemic Autoinflammatory Diseases by Selcan Demir, Erdal Sag, Fatma Dedeoglu, Seza Ozen

    Published 2018
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  3. 83
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    A genética das epilepsias The genetics of epilepsies by Iscia Lopes-Cendes

    Published 2008
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  4. 84
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    Diverse etiologies, diagnostic approach, and management of primary adrenal insufficiency in pediatric age by Han-Wook Yoo

    Published 2021
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  5. 85
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    Mechanism and target treatment of primary immunodeficiency diseases with systemic lupus erythematosus‐like phenotype by Shan Liu, Zhiyong Zhang, Xuemei Tang, Xiaodong Zhao, Yunfei An

    Published 2024
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  6. 86
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    Clinical perspectives and therapeutic strategies: pediatric autoinflammatory disease-a multi-faceted approach to fever of unknown origin of childhood by Akihiro Yachie

    Published 2022
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  7. 87
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    Familial Mediterranean fever: current perspectives by Sönmez HE, Batu ED, Özen S

    Published 2016
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  8. 88
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    Targeting myotonic dystrophy by preimplantation genetic diagnosis-karyomapping by Cheng-Wei Wang, Yung-Liang Liu, Chi-Huang Chen

    Published 2019
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  9. 89
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    Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system by Erika T. Allred, Erika T. Allred, Elliot A. Perens, Nicole G. Coufal, Nicole G. Coufal, Erica Sanford Kobayashi, Erica Sanford Kobayashi, Stephen F. Kingsmore, David P. Dimmock

    Published 2023
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  10. 90
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    A Novel De Novo Missense Mutation in HNF4A Resulting in Sulfonylurea-Responsive Maturity-onset Diabetes of the Young by Sezer Acar, Ayhan Abacı, Korcan Demir, Taha Reşid Özdemir, Berk Özyılmaz, Ece Böber

    Published 2018
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  11. 91
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    Novel findings into AIRE genetics and functioning: clinical implications by Lucia De Martino, Donatella Capalbo, Nicola Improda, Paola Lorello, Carla Ungaro, Raffaella Di Mase, Emilia Cirillo, Claudio Pignata, Mariacarolina Salerno

    Published 2016
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  12. 92
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    A rare cause of rectovaginal fistula in early infancy: It is in the genes! by Aravind Swaminathan, Malathi Sathiyasekaran, Swathi Padankatti, Rajiv B Padankatti, S Arulprakash, Revathi Raj

    Published 2021
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  13. 93
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    India's first child using PGT-M, PGT-A and HLA matching for helping a sibling having β-thalassemia major by Jwal M Banker, Parul Arora, Rajni Khajuria, Manish Banker

    Published 2019
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  14. 94
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    Vasculitis associated with adenosine deaminase 2 deficiency: at the crossroads between Behçet's disease and autoinflammation. A viewpoint by A. Colangelo, F. Tromby, G. Cafaro, R. Gerli, E. Bartoloni, C. Perricone

    Published 2023
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  15. 95
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    Chromosome 16p11.2 deletions: another piece in the genetic puzzle of childhood obesity by del Giudice Emanuele, Grandone Anna, Marzuillo Pierluigi, Perrone Laura

    Published 2010
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  16. 96
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    Interleukin 10 and interleukin 10 receptor in paediatric inflammatory bowel disease: from bench to bedside lesson by Paulina Krawiec, Agnieszka Pawłowska-Kamieniak, Elżbieta Pac-Kożuchowska

    Published 2021
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  17. 97
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    Pre-implantation Genetic Testing for Aneuploidy (PGT-A) by Wirawit Piyamongkol

    Published 2020
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  18. 98
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    Gene therapy for rare haematological and neurometabolic paediatric diseases by Vera Gallo, Alessandro Aiuti

    Published 2024
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  19. 99
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    Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation by Barbara Piccini, Caterina Coviello, Livia Drovandi, Artuso Rosangela, Francesca Monzali, Emilio Casalini, Sabrina Giglio, Sonia Toni, Carlo Dani

    Published 2018
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  20. 100
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    Gene therapy for polygenic or complex diseases by Tingting Wu, Yu Hu, Liang V. Tang

    Published 2024
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