congenital, hereditary, and neonatal diseases and abnormalities

Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies
Mareike Dahmer-Heath, Valentin Schriever, Sabine Kollmann, Carolin Schleithoff, Andrea Titieni, Metin Cetiner, Ludwig Patzer, Burkhard Tönshoff, Matthias Hansen, Petra Pennekamp, Joachim Gerß, Martin Konrad, Jens König

Journal of Medical Genetics Sep 2021, 58 (9) 629-636; DOI: 10.1136/jmedgenet-2020-107192
Haploinsufficiency of the NF1 gene is associated with protection against diabetes
Roope A Kallionpää, Sirkku Peltonen, Jussi Leppävirta, Minna Pöyhönen, Kari Auranen, Hannu Järveläinen, Juha Peltonen

Journal of Medical Genetics Jun 2021, 58 (6) 378-384; DOI: 10.1136/jmedgenet-2020-107062

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congenital, hereditary, and neonatal diseases and abnormalities