Výsledky vyhledávání - Peter Elfferich
- Zobrazuji výsledky 1 - 6 z 6
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Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex... Autor Őzgür Sancak, Mark Nellist, Miriam Goedbloed, Peter Elfferich, Carine Wouters, Anneke Maat‐Kievit, Bernard A. Zonnenberg, Senno Verhoef, Dicky Halley, Ans van den Ouweland
Vydáno 2005Artigo -
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Comparison of viable cell counts and fluorescence in situ hybridization using specific rRNA-based probes for the quantification of human fecal bacteria Autor Hermie J. M. Harmsen, Glenn R. Gibson, Peter Elfferich, G. C. Raangs, A. C. M. Wildeboer-Veloo, A. Argaiz, Marcel Roberfroid, G.W. Welling
Vydáno 2000Artigo -
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Comparison of the functional and structural characteristics of rare <i>TSC2</i> variants with clinical and genetic findings Autor Luiz Gustavo Dufner‐Almeida, Santoesha Nanhoe, Andrea Zonta, Mitra Hosseinzadeh, Regina Kom‐Gortat, Peter Elfferich, Gerben Schaaf, Annegien Kenter, Daniel Kümmel, Nicola Migone, Sue Povey, Rosemary Ekong, Mark Nellist
Vydáno 2019Artigo -
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RET andGDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems Autor Robert M.W. Hofstra, Ying Wu, Rein P. Stulp, Peter Elfferich, Jan Osinga, Saskia M Maas, Liesbeth Siderius, A S Brooks, Jenneke J. vd Ende, Vera M. R. Heydendael, Ren� S.V.M. Severijnen, Klaas M.A. Bax, Carel Meijers, C.H.C.M. Buys
Vydáno 2000Artigo -
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Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders Autor Jordy Dekker, Rachel Schot, Michiel Bongaerts, Walter G. de Valk, Monique M. van Veghel–Plandsoen, Kathryn Monfils, Hannie Douben, Peter Elfferich, Esmee Kasteleijn, Leontine van Unen, Geert Geeven, Jasper J. Saris, Yvette van Ierland, Frans W. Verheijen, Marianne L. T. van der Sterre, Farah Sadeghi Niaraki, Daphne J. Smits, Hidde H. Huidekoper, Monique Williams, Martina Wilke, Virginie J. M. Verhoeven, Marieke Joosten, Anneke J.A. Kievit, Ingrid M.B.H. van de Laar, Lies H. Hoefsloot, Marianne Hoogeveen‐Westerveld, Mark Nellist, Grazia M.S. Mancini, Tjakko J. van Ham
Vydáno 2023Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Molecular biology
Phenotype
Alternative splicing
Biochemistry
Computational biology
Exon
Medicine
Mutation
PI3K/AKT/mTOR pathway
Pathology
RNA
RNA splicing
TSC1
TSC2
Tuberous sclerosis
16S ribosomal RNA
Amplicon
Anaerobic bacteria
Apoptosis
Bacteria
Bacteroides
Bifidobacterium
Biophysics
Chromosome
Clostridia
Clostridiaceae
Clostridium