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Research Interests

Papers共 22 篇Author StatisticsCo-AuthorSimilar Experts

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Rare Diseases: Significance of Molecular Genetic Analyses in Finding a Diagnosis
Annette D. Wagner, Sena Hoffer,Christian Beger, Christian Kempf, Friedmar Raimund Kreuz,Saskia Biskup,Heinz Gabriel
Journal of the American Society of Nephrologyno. 10S (2024)
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Expanding the Mutational Spectrum of the MPL Gene: Identification of Two Novel Loss-of-function Variants in a Fetus with CAMT - Case Study
Lejla Mulahasanovic, Christine Froehlich, Susanna Hellmeister,Heinz Gabriel, Oliver Bartsch,Saskia Biskup
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 365-365
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Mosaicism in Germline NGS Diagnostics - Findings from Routine Diagnostics
Christin Voigt, Christine Froehlich, Philippe Chatelain,Heinz Gabriel,Saskia Biskup
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 603-603
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Author Statistics

#Papers: 22

#Citation: 184

H-Index: 6

G-Index: 8

Sociability: 5

Diversity: 1

Activity: 4

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