Fachrepositorium Lebenswissenschaften

22 Treffer

Seiten

Suche

Publisso-Menue

Seiten

Phenotypic effects of genetic variants associated with autism

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

Effect of a common UMOD variant on kidney function, blood pressure, cognitive and physical function in a community-based cohort of older adults

2021 . villagomez fuentes, linda elizabeth | Algharably, Engi Abdel–Hady | Toepfer, Sarah | König, Maximilian | Demuth, Ilja | Bertram, Lars | Kreutz, Reinhold | Bolbrinker, Juliane

Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li–Fraumeni syndrome

Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies

2021 . Decker, Melanie | Lammens, Tim | Ferster, Alina | Erlacher, Miriam | Yoshimi, Ayami | Niemeyer, Charlotte | Ernst, Martijn P. T. | Raaijmakers, Marc H. G. P. | Duployez, Nicolas | Flaum, Andreas | Steinemann, Doris | Schlegelberger, Brigitte | Illig, Thomas | Ripperger, Tim

Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders

2021 . Klau, Julia | Abou Jamra, Rami | Radtke, Maximilian | Oppermann, Henry | Lemke, Johannes | Beblo, Skadi | Popp, Bernt

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum

2021 . Buelow, Markus | Süßmuth, David | Smith, Laurie D. | Aryani, Omid | CASTIGLIONI, CLAUDIA | Stenzel, Werner | Bertini, Enrico | Schuelke, Markus | Knierim, Ellen

Familial cleft tongue caused by a unique translation initiation codon variant in TP63

2021 . Schmidt, Julia | Schreiber, Gudrun | Altmüller, Janine | Thiele, Holger | Nürnberg, Peter | Li, Yun | Kaulfuß, Silke | Funke, Rudolf | Wilken, Bernd | Yigit, Gökhan | Wollnik, Bernd

The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases

2021 . Fuchs, Sigrid | Lisfeld, Jasmin | Kankel, Stefanie | Person, Luisa | Liehr, Thomas

Context-specific chromatin remodeling activity of mSWI/SNF complexes depends on the epigenetic landscape

2021 . Sokpor, Godwin | Nguyen, Huu Phuc | Tuoc, Tran

Seiten