De Novo Mutations in CHAMP1 Cause Intellectual Disability ...
www.cell.com
by M Hempel · · Cited by 72 — Hartmut Engels,2,11,* and Davor Lessel1,11,*. CHAMP1 encodes a protein with a function in kinetochore-microtubule attachment and in the ... › ajhg › pdfExtended
Severe mental retardation with breathing abnormalities (Pitt ...
academic.oup.com
by A Brockschmidt · · Cited by 158 — Hartmut Engels,. Hartmut Engels. 1. Institute of Human Genetics. ,. Rheinische Friedrich-Wilhelms-University. , Bonn. ,. Germany. › hmg › article-abstract
De novo microdeletions and point mutations affecting SOX2 in ...
pubmed.ncbi.nlm.nih.gov
by N Dennert · · Cited by 17 — Nicola Dennert , Hartmut Engels , Kirsten Cremer , Jessica Becker , Eva Wohlleber , Beate Albrecht , Julia K Ehret , Hermann-Josef Lüdecke , Mohnish Suri ... by JK Ehret · · Cited by 15 — Sequencing results of GARNL3 in 192 patients with ID/DD. Go to: Footnotes. Julia K. Ehret, Hartmut Engels, Joris Andrieux, Jennifer A ... › ... › articles › PMC
Expanding the clinical spectrum associated with defects in ...
bmcmedgenet.biomedcentral.com
by A Gregor · · Cited by 125 — Hartmut Engels & Eva Wohlleber. Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, ... › articles
Comprehensive analysis of human subtelomeres with Nature
www.nature.com
by H Engels · · Cited by 22 — Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation. Hartmut Engels,; Antje ... by H Engels · · Cited by 22 — Hartmut Engels*,1,2, Antje Ehrbrecht1, Susanne Zahn1, Kristin Bosse1, Hans Vrolijk2,. Stefan White3, Vera Kalscheuer4, Jan MN Hoovers5, Gesa Schwanitz1, ... › ... › articles › articles
All web results to the name "Hartmut Engels"
5q31 Microdeletions: Definition of a Critical Region and ...
www.karger.com
by W Kleffmann · · Cited by 14 — Dr. Hartmut Engels. Institute of Human Genetics, University of Bonn. Biomedical Center, . DE– Bonn (Germany). › article › fulltext
A new face of Borjeson–Forssman–Lehmann syndrome? De ...
opus4.kobv.de
by C Zweier · · Cited by 50 — Christiane Zweier, Cornelia Kraus, Louise Brueton, Trevor Cole, Franziska Degenhardt, Hartmut Engels, Gabriele Gillessen-Kaesbach, ... › year › docId
Cantú Syndrome Resulting from Activating Mutation in the ...
profiles.wustl.edu
by PE Cooper · · Cited by 88 — Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene. Paige E. Cooper, Heiko Reutter, Joachim Woelfle, Hartmut Engels, Dorothy K. Grange, ... › publications › cantú-syndro...
De Novo and Inherited Loss-of-Function Variants in TLK2
cris.maastrichtuniversity.nl
by MRF Reijnders · · Cited by 27 — ... Caroline Schluth-Bolard, Charu Deshpande, Claudia A. L. Ruivenkamp, Dagmar Wieczorek, Diana Baralle, Edward M. Blair, Hartmut Engels › publications
De novo mutations in beta-catenin (CTNNB1) appear to be a ...
research.vumc.nl
by A Kuechler · · Cited by 82 — ... Johanna Christina Czeschik, Hartmut Engels, Koen van Gassen, Elisabeth Graf, Mieke van Haelst, Weimin He, Jacob S Hogue, Marlies Kempers, David Koolen, ... › publications › de-novo-mutat...
GestaltMatcher facilitates rare disease matching using facial ...
www-nature-com-s.caas.cn
by TC Hsieh · · Cited by 2 — Axel Schmidt, Sophia Peters, Hartmut Engels, Elisabeth Mangold, Martina Kreiß, Kirsten Cremer, Claudia Perne, Regina C. Betz, ... › ... › technical reports
Haploinsufficiency of MeCP2-interacting transcriptional co ...
eprints.soton.ac.uk
by JS Witteveen · · Cited by 66 — Author: Hartmut Engels. Author: Sonja A. De Munnik. Author: Jasper E. Visser. Author: Han G. Brunner. Author: Gerard J.M. Martens. Author: Rolph Pfundt. › ...
Heterozygous HNRNPU variants cause early onset epilepsy ...
research.rug.nl
by NC Bramswig · · Cited by 56 — ... Jacques L. Michaud, Kristen Park, Alexander P. A. Stegmann, Hermine E. Veenstra-Knol, Thomas Wieland, Bernd Wollnik, Hartmut Engels Show 3 more › publications › heterozygous-hn...
Loss-of-function variants in HIVEP2 are a cause of intellectual ...
jhu.pure.elsevier.com
by S Srivastava · · Cited by 38 — Siddharth Srivastava, Hartmut Engels, Ina Schanze, Kirsten Cremer, Thomas Wieland, Moritz Menzel, Max Schubach, Saskia Biskup, Martina Krei, ... › publications › loss-of-fu...
Phenotypic spectrum associated with Experts@Minnesota
experts.umn.edu
by U Moog · · Cited by 111 — ... Bettina Chilian, Tatjana Bierhals, Neophytos Apeshiotis, Stefanie Balg, Nicolas Chassaing, Christine Coubes, Soma Das, Hartmut Engels, Hilde Van Esch, ... › publications › phenotypic-spe...
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