Showing results (191-200 of 220) with videos related to

Sort By:
Pageof 22
Journal of Medical Genetics|April 14, 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingTobias B Haack, Birgit Haberberger, Eva-Maria Frisch, et al.
Molecular Genetics and Metabolism|January 28, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screeningTobias B Haack, Matteo Gorza, Katharina Danhauser, et al.
Plos One|January 27, 2018
An AKAP-Lbc-RhoA interaction inhibitor promotes the translocation of aquaporin-2 to the plasma membrane of renal collecting duct principal cellsKatharina Schrade, Jessica Tröger, Adeeb Eldahshan, et al.
Human Genetics|April 11, 2017
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disabilityNuria C Bramswig, Hermann-Josef Lüdecke, Fadi F Hamdan, et al.
EMBO Molecular Medicine|January 24, 2013
Alterations in cardiac DNA methylation in human dilated cardiomyopathyJan Haas, Karen S Frese, Yoon Jung Park, et al.
The Journal of Molecular Diagnostics : JMD|August 22, 2025
High-Specificity Detection of UV Mutational Signatures in Circulating Tumor DNA for Diagnostic Classification of Cutaneous and Unknown Primary Tumors Using FoundationOne Liquid CDxDouglas A Mata, Angela A Kou, Andreas M Heilmann, et al.
Neurology. Genetics|December 12, 2018
TPP2 mutation associated with sterile brain inflammation mimicking MSEva M Reinthaler, Elisabeth Graf, Tobias Zrzavy, et al.
Nature Genetics|February 19, 2013
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertensionFelix Beuschlein, Sheerazed Boulkroun, Andrea Osswald, et al.
The New England Journal of Medicine|February 28, 2014
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndromeFelix Beuschlein, Martin Fassnacht, Guillaume Assié, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 24, 2012
Srgap3⁻/⁻ mice present a neurodevelopmental disorder with schizophrenia-related intermediate phenotypesRobert Waltereit, Uwe Leimer, Oliver von Bohlen Und Halbach, et al.
Pageof 22