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Hartmut Engels results 10 · Newest (Page 1/1, per page 25)
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A protocol for quantifying mono- and polysaccharides in seawater and related saline matrices by electro-dialysis (ED) – combined with HPAEC-PADOA Marine
Ocean Science · 2020 · Vol. 16 · Issue 4 · Copernicus Publications / European Geosciences Union
Sebastian Zeppenfeld; Manuela van Pinxteren; Anja Engel; Hartmut Herrmann
An optimized method is presented to determine dissolved free (DFCHO) and dissolved combined carbohydrates (DCCHO) in saline matrices, such as oceanic seawater, Arctic ice core samples or brine using a combination of a desalination with electro-dialysis (ED) and high-performance anion exchange chromatography coupled to pulsed amperometric detection (HPAEC-PAD). Free neutral sugars, such as glucose and galactose, were found with...
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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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De novo FBXO11 mutations are associated with intellectual disability and behavioural anomaliesNARA Subscribed
Human Genetics · 2018 · Vol. 137 · Issue 5 · Springer
Daniel Fritzen; Alma Kuechler; Mona Grimmel; Jessica Becker; Sophia Peters; Marc Sturm; Hela Hundertmark; Axel Schmidt; Martina Kreiß; Tim M. Strom; Dagmar Wieczorek; Tobias B. Haack; Stefanie Beck-Wödl; Kirsten Cremer; Hartmut Engels
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Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disabilityNARA Subscribed
Human Genetics · 2017 · Vol. 136 · Issue 7 · Springer
Nuria C. Bramswig; Hermann-Josef Lüdecke; Fadi F. Hamdan; Janine Altmüller; Filippo Beleggia; Nursel H. Elcioglu; Catharine Freyer; Erica H. Gerkes; Yasemin Kendir Demirkol; Kelly G. Knupp; Alma Kuechler; Yun Li; Daniel H. Lowenstein; Jacques L. Michaud; Kristen Park; Alexander P.A. Stegmann; Hermine E. Veenstra-Knol; Thomas Wieland; Bernd Wollnik; Hartmut Engels; Tim M. Strom; Tjitske Kleefstra; Dagmar Wieczorek
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The Ocean's Vital Skin: Toward an Integrated Understanding of the Sea Surface MicrolayerOA Marine
Frontiers in Marine Science · 2017 · Vol. 4 · Frontiers
Anja Engel; Hermann W. Bange; Michael Cunliffe; Susannah M. Burrows; Gernot Friedrichs; Luisa Galgani; Hartmut Herrmann; Norbert Hertkorn; Martin Johnson; Peter S. Liss; Patricia K. Quinn; Markus Schartau; Alexander Soloviev; Christian Stolle; Robert C. Upstill-Goddard; Manuela van Pinxteren; Birthe Zäncker
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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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Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysisNARA Subscribed
Human Genetics · 2013 · Vol. 132 · Issue 7 · Springer
Carl Friedrich Classen; Vera Riehmer; Christina Landwehr; Anne Kosfeld; Stefanie Heilmann; Caroline Scholz; Sarah Kabisch; Hartmut Engels; Sascha Tierling; Miroslav Zivicnjak; Frank Schacherer; Dieter Haffner; Ruthild G. Weber
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The neurobeachin gene ( Nbea ) identifies a new region of homology between mouse central Chromosome 3 and human Chromosome 13q13NARA Subscribed
Mammalian Genome · 1999 · Vol. 10 · Issue 10 · Springer
Debra J. Gilbert; Hartmut Engel; Xiaolu Wang; Karl-Heinz Grzeschik; Neal G. Copeland; Nancy A. Jenkins; Manfred W. Kilimann
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The structures of the human neuronal nicotinic acetylcholine receptor β2- and α3-subunit genes ( CHRNB2 and CHRNA3 )NARA Subscribed
Human Genetics · 1998 · Vol. 103 · Issue 6 · Springer
Nicole Rempel; Sibilla Heyers; Hartmut Engels; E. Sleegers; O. K. Steinlein
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Molecular investigation of the parental origin of a de novo unbalanced translocation 13/18NARA Subscribed
Human Genetics · 1997 · Vol. 99 · Issue 4 · Springer
T. Eggermann; Hartmut Engels; Christiane Heidrich-Kaul; Inge Moderau; Gesa Schwanitz
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