T. Haack

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations

Petra Lišková, Ľubica Ďuďáková, Karolina Kamińska, Laura Kühlewein et autres

cz, ch, de, nl, us, il, be, gb (code pays fourni par la source)

Homozygous Frameshift Mutation in the ATP1A2 Gene Leading to Severe Pseudo-TORCH Syndrome

Michael Alber, Michael Quante, Cornelia Wiechers, Axel R. Franz et autres

de (code pays fourni par la source)

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Adam Jackson, Sheng‐Jia Lin, Elizabeth A. Jones, Kate Chandler et autres

gb, us (code pays fourni par la source)

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, Rebecca Schüle et autres

de, nl, gb, es, fr, ca (code pays fourni par la source)

Radiochemistry and Preclinical Evaluation of Two Novel Peptide Analogues Targeting Glucagon Receptor for AntiDiabetic Drug Development

Irina Velikyan, Martin Bossart, T. Haack, Iina Laitinen et autres

First-in-class PET tracer for the glucagon receptor

Oskar Eriksson, Martin Bossart, T. Haack, Iina Laitinen et autres

Sengers syndrome is caused by a deficiency of the acylglycerol kinase

Wolfgang Sperl, Johanna Mayr, T. Haack, Figueroa Zimmermann et autres