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Dr. med. Bernt Popp
List of publications:
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Institute of Human Genetics
Lehrstuhl für Humangenetik
Publications
(40)
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Journal article
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Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability (2019)
Popp B, Agaimy A, Kraus C, Knaup K, Ekici AB, Uebe S, Reis A, et al.
Journal article
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy (2019)
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, et al.
Journal article
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder (2019)
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, et al.
Journal article
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature (2019)
Hauer N, Popp B, Taher L, Vogl C, Dhandapany PS, Büttner C, Uebe S, et al.
Journal article
TRIM28 haploinsufficiency predisposes to Wilms tumor (2019)
Diets IJ, Hoyer J, Ekici AB, Popp B, Hoogerbrugge N, van Reijmersdal SV, Bhaskaran R, et al.
Journal article
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome (2018)
Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, et al.
Journal article
A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings (2018)
Hebebrand M, Vasileiou G, Krumbiegel M, Kraus C, Uebe S, Ekici AB, Thiel C, et al.
Journal article
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium (2018)
Popp B, Krumbiegel M, Grosch J, Sommer A, Uebe S, Kohl Z, Ploetz S, et al.
Journal article
Is MED13L-related intellectual disability a recognizable syndrome? (2018)
Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, Illum N, et al.
Journal article
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature (2018)
Hauer N, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, et al.
Journal article
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