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Dr. rer. nat. Mandy Krumbiegel
List of publications:
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Institute of Human Genetics
Publications
(19)
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Journal article
Journal article
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Book chapter / Article in edited volumes
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Authored book
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Translation
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Thesis
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Conference contribution
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Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability (2021)
Neuser S, Brechmann B, Heimer G, Broesse I, Schubert S, O'Grady L, Zech M, et al.
Journal article
Clinical and molecular delineation of spondylocostal dysostosis type 3 (2021)
Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, et al.
Journal article
Further clinical and molecular delineation of spondylocostal dysostosis type 3 (2020)
Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, et al.
Conference contribution
Tetrasomy of SCN2A associated with refractory neonatal epileptic encephalopathy (2020)
Krumbiegel M, Trollmann R, Mammadova D, Schnell A, Kraus C, Ekici AB, Reis A, Zweier C
Conference contribution
Deletion 7q31.2q31.31 segregating in a family with speech and language deficiencies (2020)
Rieger M, Krumbiegel M, Reuter M, Schützenberger A, Reis A, Zweier C
Conference contribution
CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome (2020)
Börstler T, Wend H, Krumbiegel M, Kavyanifar A, Wiesmann da Silva Reis A, Lie DC, Winner B, Turan S
Journal article, Original article
CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome (2020)
Börstler T, Wend H, Krumbiegel M, Kavyanifar A, Reis A, Lie DC, Winner B, Turan S
Journal article
CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome. (2020)
Turan S, Winner B, Winner B, Krumbiegel M, Wiesmann da Silva Reis A, Lie DC, Börstler T, et al.
Journal article
7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder (2020)
Rieger M, Krumbiegel M, Reuter M, Schützenberger A, Reis A, Zweier C
Journal article
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