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Human Mutation|August 5, 2015
The genomic birthday paradox: how much is enough?Peter Krawitz, Orion Buske, Na Zhu, et al.Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|July 25, 2016
The many faces of paediatric mitochondrial disease on neuroimagingFabian Baertling, Dirk Klee, Tobias B Haack, et al.Neurology. Genetics|August 18, 2020
LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrumChristiane M Neuhofer, Claudia B Catarino, Heinrich Schmidt, et al.Pediatrics|April 4, 2018
Blue Diaper Syndrome and PCSK1 MutationsFelix Distelmaier, Diran Herebian, Claudia Atasever, et al.Epilepsia|June 27, 2025
Recurrent c.-11C>T change located upstream of the normal ATG initiation codon of ANKH causes self-limited familial infantile epilepsyJosua Kegele, Hendrik Juenger, Harald Frantzmann, et al.Journal of Clinical Virology : the Official Publication of the Pan American Society for Clinical Virology|June 15, 2010
VZV meningitis following varicella vaccineDahlene Fusco, Peter Krawitz, Philip LaRussa, et al.Clinical Proteomics|February 12, 2025
Identification of novel proteomic biomarkers for hypertension: a targeted approach for precision medicineRana S Aldisi, Alsamman M Alsamman, Peter Krawitz, et al.Annals of Clinical and Translational Neurology|June 6, 2021
Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsyRebecca Herzog, Yorck Hellenbroich, Norbert Brüggemann, et al.Molecular Genetics & Genomic Medicine|December 8, 2022
Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotypeClaudia S Priglinger, Günter Rudolph, Irene Schmid, et al.Molecular Syndromology|June 16, 2023
Sequence Variants in MEGF8 and GJA1 Underlying SyndactylyMuhammad Bilal, Tobias B Haack, Rebecca Buchert, et al.Pageof 38