Publications by authors named "Moritz Hebebrand"

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Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Pascale Sabeh, Samantha A Dumas, Claudia Maios, Hiba Daghar, Marek Korzeniowski, Moritz Hebebrand

Am J Hum Genet· January 2025

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De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Anne Gregor, Tanja Meerbrei, Thorsten Gerstner, Annick Toutain, Sally Ann Lynch, Moritz Hebebrand

Hum Mol Genet· February 2022

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BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.
Elisabeth Bosch, Moritz Hebebrand, Bernt Popp, Theresa Penger, Bettina Behring

J Clin Endocrinol Metab· November 2021

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Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformations.
Dariush Skowronek, Moritz Hebebrand, Ramona Erber, Abbas Agaimy, Christiane Zweier

Eur J Dermatol· April 2020

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The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe

Orphanet J Rare Dis· February 2019

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A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.
Moritz Hebebrand, Georgia Vasileiou, Mandy Krumbiegel, Cornelia Kraus, Steffen Uebe

Am J Med Genet A· January 2019

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The role of genetic variation of human metabolism for BMI, mental traits and mental disorders.
Johannes Hebebrand, Triinu Peters, Dick Schijven, Moritz Hebebrand, Corinna Grasemann

Mol Metab· June 2018

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