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European Journal of Medical Genetics|January 13, 2022
A de novo truncating variant in CSDE1 in an adult-onset neuropsychiatric phenotype without intellectual disabilityMartin Krenn, Sylvia Kepa, Gregor Kasprian, et al.
Gene|January 7, 2022
There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndromeDominik S Westphal, Elisa Mastantuono, Heide Seidel, et al.
Neurology. Genetics|November 2, 2020
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesisFlorentine Radelfahr, Korbinian M Riedhammer, Leonie F Keidel, et al.
Gene|June 2, 2020
Congenital lymphedema as a rare and first symptom of tuberous sclerosis complexJürgen Klinner, Marcus Krüger, Theresa Brunet, et al.
Clinical Genetics|June 17, 2022
Disorders of histone methylation: Molecular basis and clinical syndromesMode Al Ojaimi, Bashar J Banimortada, Amna Othman, et al.
Frontiers in Pediatrics|December 19, 2019
The Hypomorphic Variant p.(Gly624Asp) in <i>COL4A5</i> as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport SyndromeEva Pauline Macheroux, Matthias C Braunisch, Stephanie Pucci Pegler, et al.
European Journal of Human Genetics : EJHG|March 19, 2026
Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous resultsKorbinian M Riedhammer, Patrick Richthammer, Dominik S Westphal, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP|April 6, 2022
Connectome Analysis in an Individual with SETD1B -Related Neurodevelopmental Disorder and EpilepsyRosa Weng, Karl-Heinz Nenning, Michelle Schwarz, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 13, 2022
Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort studyJan Boeckhaus, Julia Hoefele, Korbinian M Riedhammer, et al.
European Journal of Human Genetics : EJHG|March 16, 2023
Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experienceKorbinian M Riedhammer, Jasmina Ćomić, Velibor Tasic, et al.
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