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Mitochondrion|July 12, 2017
LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical studyMaja Hempel, Laura S Kremer, Konstantinos Tsiakas, et al.Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 6, 2024
Quality assurance within the context of genome diagnostics (a german perspective)Kraft Florian, Anna Benet-Pagès, Daniel Berner, et al.Nutrients|July 13, 2024
Beneficial Effects of Synbiotics on the Gut Microbiome in Individuals with Low Fiber Intake: Secondary Analysis of a Double-Blind, Randomized Controlled TrialAakash Mantri, Linda Klümpen, Waldemar Seel, et al.Neurogenetics|February 10, 2015
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalitiesFabian Baertling, Tobias B Haack, Richard J Rodenburg, et al.Cytometry. Part a : the Journal of the International Society for Analytical Cytology|June 11, 2020
Hematologist-Level Classification of Mature B-Cell Neoplasm Using Deep Learning on Multiparameter Flow Cytometry DataMax Zhao, Nanditha Mallesh, Alexander Höllein, et al.American Journal of Medical Genetics. Part A|May 10, 2024
Next-generation phenotyping in Nigerian children with Cornelia de Lange syndromeAnnabelle Arlt, Alexej Knaus, Tzung-Chien Hsieh, et al.International Journal of Molecular Sciences|June 13, 2025
Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA RepeatsJoohyun Park, Claudia Dufke, Zofia Fleszar, et al.Acta Ophthalmologica|June 26, 2026
Clinical manifestations of dual-gene variants in retinitis pigmentosaLasse Wolfram, Jan-Philipp Bodenbender, David A Merle, et al.European Journal of Human Genetics : EJHG|June 15, 2017
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalitiesDiran Herebian, Bader Alhaddad, Annette Seibt, et al.Journal of Medical Genetics|May 28, 2013
Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusionAleksander Jamsheer, Tomasz Zemojtel, Mateusz Kolanczyk, et al.Pageof 39