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The role of genetic variation of human metabolism for BMI, mental traits and mental disorders.
Mol Metab. 2018 Jun;12:1-11. doi: 10.1016/j.molmet.2018.03.015. Epub 2018 Apr 3.
Mol Metab. 2018.
PMID: 29673576
Free PMC article.
BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.
Bosch E, Hebebrand M, Popp B, Penger T, Behring B, Cox H, Towner S, Kraus C, Wilson WG, Khan S, Krumbiegel M, Ekici AB, Uebe S, Trollmann R, Woelfle J, Reis A, Vasileiou G.
Bosch E, et al. Among authors: hebebrand m.
J Clin Endocrinol Metab. 2021 Nov 19;106(12):3413-3427. doi: 10.1210/clinem/dgab592.
J Clin Endocrinol Metab. 2021.
PMID: 34383079
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A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.
Hebebrand M, Vasileiou G, Krumbiegel M, Kraus C, Uebe S, Ekici AB, Thiel CT, Reis A, Popp B.
Hebebrand M, et al.
Am J Med Genet A. 2019 Jan;179(1):50-56. doi: 10.1002/ajmg.a.60679. Epub 2018 Dec 11.
Am J Med Genet A. 2019.
PMID: 30548383
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The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B.
Hebebrand M, et al.
Orphanet J Rare Dis. 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x.
Orphanet J Rare Dis. 2019.
PMID: 30744660
Free PMC article.
Review.
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De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, Lemke JR, Bernat JA, Bombei HM, Foulds N, Hunt D, Kuechler A, Beygo J, Stöbe P, Bouman A, Palomares-Bralo M, Santos-Simarro F, Garcia-Minaur S, Pacio-Miguez M, Popp B, Vasileiou G, Hebebrand M, Reis A, Schuhmann S, Krumbiegel M, Brown NJ, Sparber P, Melikyan L, Bessonova L, Cherevatova T, Sharkov A, Shcherbakova N, Dabir T, Kini U, Schwaibold EMC, Haack TB, Bertoli M, Hoffjan S, Falb R, Shinawi M, Sticht H, Zweier C.
Gregor A, et al. Among authors: hebebrand m.
Hum Mol Genet. 2022 Feb 3;31(3):440-454. doi: 10.1093/hmg/ddab265.
Hum Mol Genet. 2022.
PMID: 34505148
Free PMC article.
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Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformations.
Skowronek D, Hebebrand M, Erber R, Agaimy A, Zweier C, Felbor U, Rath M.
Skowronek D, et al. Among authors: hebebrand m.
Eur J Dermatol. 2020 Apr 1;30(2):179-181. doi: 10.1684/ejd.2020.3716.
Eur J Dermatol. 2020.
PMID: 32538359
No abstract available.
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