Maja Hempel
10PUBLICATIONS
125CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (10)
Sort by Publication Date:
|Sep 25, 2025
Homozygous DBX1 Nonsense Variant in a Case of Atypical Congenital Central Hypoventilation.Amelie T van der Ven, Maja Hempel, Claas Kruse
|Mar 29, 2025
Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.Frederike L Harms, Christian Müller, Fanny Kortüm
|Jan 03, 2024
Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use.Anna Worthmann, Julius Ridder, Sharlaine Y L Piel
|May 26, 2022
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.Maria B Christensen, Amanda M Levy, Nazanin A Mohammadi
|Sep 07, 2021
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.Amelie T van der Ven, Jessika Johannsen, Fanny Kortüm
|May 27, 2021
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.Silvia Martin-Almedina, Kazim Ogmen, Ege Sackey
Pageof 2
Frequent Collaborators
3 joint publications
Tatjana Bierhals
2 joint publications
Kazim Ogmen
2 joint publications
Jenny Lord
2 joint publications
Ege Sackey
2 joint publications
Cathrine Ebbing
2 joint publications
Silvia Martin-Almedina
2 joint publications
Christina Karapouliou
2 joint publications
Dionysios Grigoriadis
2 joint publications
Kerstin Kutsche
2 joint publications
Rikke S Møller
