Concepedia

Anna Lena Burgemeister

AL

Statistics

Publications

3

Citations

44

H-Index

3

Active since

2014

Affiliations

Genetikum(Current)

Anna Lena Burgemeister is an author at Genetikum specializing in genetics, human genetics, and life sciences.

Publications per year

2014–2019

3

Publications

3

Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum

Anna Lena Burgemeister, Eva Daumiller, Gabriele du Bois et al. · European Journal of Medical Genetics · 2018 · 18 citations

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Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance

Harald Surowy, Christian Sutter, Max Mittnacht et al. · Breast Cancer Research and Treatment · 2014 · 13 citations

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Homozygous loss‐of‐function variants of <i>TASP1</i> , a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies

Jehan Suleiman, Korbinian M. Riedhammer, Timothy Jicinsky et al. · Human Mutation · 2019 · 13 citations · Full text

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