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NARA Subscribed9
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Springer Nature9
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Archives of Toxicology2
Human Genetics6
International Archives of Occupational and Environmental Health1
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20181
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Beate Albrecht results 9 · Newest (Page 1/1, per page 25)
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Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)NARA Subscribed
Human Genetics · 2018 · Vol. 137 · Issue 9 · Springer
Nuria C. Bramswig; Aida M. Bertoli-Avella; Beate Albrecht; Aida I. Al Aqeel; Amal Alhashem; Nouriya Al-Sannaa; Maissa Bah; Katharina Bröhl; Christel Depienne; Nathalie Dorison; Diane Doummar; Nadja Ehmke; Hasnaa M. Elbendary; Svetlana Gorokhova; Delphine Héron; Denise Horn; Kiely James; Boris Keren; Alma Kuechler; Samira Ismail; Mahmoud Y. Issa; Isabelle Marey; Michèle Mayer; Jennifer McEvoy-Venneri; Andre Megarbane; Cyril Mignot; Sarar Mohamed; Caroline Nava; Nicole Philip; Cecile Ravix; Arndt Rolfs; Abdelrahim Abdrabou Sadek; Lara Segebrecht; Valentina Stanley; Camille Trautman; Stephanie Valence; Laurent Villard; Thomas Wieland; Hartmut Engels; Tim M. Strom; Maha S. Zaki; Joseph G. Gleeson; Hermann-Josef Lüdecke; Peter Bauer; Dagmar Wieczorek
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Metabolites of the PAH diol epoxide pathway and other urinary biomarkers of phenanthrene and pyrene in workers with and without exposure to bitumen fumesNARA Subscribed
International Archives of Occupational and Environmental Health · 2016 · Vol. 89 · Issue 8 · Springer
Anne Lotz; Beate Pesch; Gerhard Dettbarn; Monika Raulf; Peter Welge; Hans-Peter Rihs; Dietmar Breuer; Stefan Gabriel; Jens-Uwe Hahn; Thomas Brüning; Albrecht Seidel
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Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromesNARA Subscribed
Human Genetics · 2015 · Vol. 134 · Issue 6 · Springer
Nuria C. Bramswig; Hermann-Josef Lüdecke; Yasemin Alanay; Beate Albrecht; Alexander Barthelmie; Koray Boduroglu; Diana Braunholz; Almuth Caliebe; Krystyna H. Chrzanowska; Johanna Christina Czeschik; Sabine Endele; Elisabeth Graf; Encarna Guillén-Navarro; Pelin Özlem Simsek Kiper; Vanesa López-González; Ilaria Parenti; Jelena Pozojevic; Gulen Eda Utine; Thomas Wieland; Frank J. Kaiser; Bernd Wollnik; Tim M. Strom; Dagmar Wieczorek
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De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrumNARA Subscribed
Human Genetics · 2015 · Vol. 134 · Issue 1 · Springer
Alma Kuechler; Marjolein H. Willemsen; Beate Albrecht; Carlos A. Bacino; Dennis W. Bartholomew; Hans van Bokhoven; Marie Jose H. van den Boogaard; Nuria Bramswig; Christian Büttner; Kirsten Cremer; Johanna Christina Czeschik; Hartmut Engels; Koen van Gassen; Elisabeth Graf; Mieke van Haelst; Weimin He; Jacob S. Hogue; Marlies Kempers; David Koolen; Glen Monroe; Sonja de Munnik; Matthew Pastore; André Reis; Miriam S. Reuter; David H. Tegay; Joris Veltman; Gepke Visser; Peter van Hasselt; Eric E. J. Smeets; Lisenka Vissers; Thomas Wieland; Willemijn Wissink; Helger Yntema; Alexander Michael Zink; Tim M. Strom; Hermann-Josef Lüdecke; Tjitske Kleefstra; Dagmar Wieczorek
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A mutation screen in patients with Kabuki syndromeNARA Subscribed
Human Genetics · 2011 · Vol. 130 · Issue 6 · Springer
Yun Li; Nina Bögershausen; Yasemin Alanay; Pelin Özlem Simsek Kiper; Nadine Plume; Katharina Keupp; Esther Pohl; Barbara Pawlik; Martin Rachwalski; Esther Milz; Michaela Thoenes; Beate Albrecht; Eva-Christina Prott; Margret Lehmkühler; Stephanie Demuth; Gülen Eda Utine; Koray Boduroglu; Katja Frankenbusch; Guntram Borck; Gabriele Gillessen-Kaesbach; Gökhan Yigit; Dagmar Wieczorek; Bernd Wollnik
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Air sampling and determination of vapours and aerosols of bitumen and polycyclic aromatic hydrocarbons in the Human Bitumen StudyNARA Subscribed
Archives of Toxicology · 2011 · Vol. 85 · Issue S1 · Springer
Dietmar Breuer; Jens-Uwe Hahn; Dieter Höber; Christoph Emmel; Uwe Musanke; Reinhold Rühl; Anne Spickenheuer; Monika Raulf-Heimsoth; Rainer Bramer; Albrecht Seidel; Bernd Schilling; Evelyn Heinze; Benjamin Kendzia; Boleslaw Marczynski; Peter Welge; Jürgen Angerer; Thomas Brüning; Beate Pesch
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Occupational exposure to polycyclic aromatic hydrocarbons and DNA damage by industry: a nationwide study in GermanyNARA Subscribed
Archives of Toxicology · 2009 · Vol. 83 · Issue 10 · Springer
Boleslaw Marczynski; Beate Pesch; Michael Wilhelm; Bernd Rossbach; Ralf Preuss; Jens-Uwe Hahn; Sylvia Rabstein; Monika Raulf-Heimsoth; Albrecht Seidel; Hans-Peter Rihs; Ansgar Adams; Michael Scherenberg; Anja Erkes; Beate Engelhardt; Kurt Straif; Heiko Udo Käfferlein; Jürgen Angerer; Thomas Brüning
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Identification of copy number variants associated with BPES-like phenotypesNARA Subscribed
Human Genetics · 2008 · Vol. 124 · Issue 5 · Springer
Antoinet C. J. Gijsbers; Barbara D’haene; Yvonne Hilhorst-Hofstee; Marcel Mannens; Beate Albrecht; Joerg Seidel; David R. Witt; Melissa K. Maisenbacher; Bart Loeys; Ton van Essen; Egbert Bakker; Raoul Hennekam; Martijn H. Breuning; Elfride De Baere; Claudia A. L. Ruivenkamp
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Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classificationNARA Subscribed
Human Genetics · 2003 · Vol. 114 · Issue 1 · Springer
Heike Starke; Angela Nietzel; Anja Weise; Anita Heller; Kristin Mrasek; Britta Belitz; Christine Kelbova; Marianne Volleth; Beate Albrecht; Beate Mitulla; Ralf Trappe; Iris Bartels; Sabine Adolph; Andreas Dufke; Sylke Singer; Markus Stumm; Rolf-Dieter Wegner; Jörg Seidel; Angela Schmidt; Alma Kuechler; Isolde Schreyer; Uwe Claussen; Ferdinand von Eggeling; Thomas Liehr
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