Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.

Autor: Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany Amelie.Mueller@med.uni-tuebingen.de., Klein W; genetikum Stuttgart, Stuttgart, Germany., Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Spranger S; Practice of Human Genetics, Bremen, Germany., Stöbe P; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Gauck D; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Dikow N; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schmidt C; genetikum Neu-Ulm, Neu-Ulm, Germany., Averdunk L; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University Dusseldorf, Dusseldorf, Germany., Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Heinrich T; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Prodan N; Department of Women's Health, University Women's Hospital, Tuebingen, Germany., Park J; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Kehrer M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Kelemen O; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Hartmann S; genetikum Neu-Ulm, Neu-Ulm, Germany., Horn D; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Emmerich D; Practice for Ultrasound and Prenatal Medicine, Freiburg, Germany., Hirt N; Institute of Human Genetics, University Medical Center Freiburg, Freiburg, Germany., Neumann A; Practice for Prenatal Medicine, Bremen, Germany., Kristiansen G; Institute of Pathology, Center for Integrated Oncology, University of Bonn, Bonn, Germany., Gembruch U; Department of Obstetrics and Prenatal Medicine, University Hospital Bonn, Bonn, Germany., Haen S; Institute of Pathology and Neuropathology, University of Tuebingen, Tuebingen, Germany., Siebert R; Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany., Hentze S; Practice for Human Genetics, Heidelberg, Germany., Hoopmann M; Department of Women's Health, University Women's Hospital, Tuebingen, Germany., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Waldmüller S; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Gläser D; genetikum Neu-Ulm, Neu-Ulm, Germany., Tekesin I; Prenatal Medicine Stuttgart, Stuttgart, Germany., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University Dusseldorf, Dusseldorf, Germany., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany., Kagan KO; Department of Women's Health, University Women's Hospital, Tuebingen, Germany., Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany.

Publikováno v: Journal of medical genetics [J Med Genet] 2023 Jan; Vol. 60 (1), pp. 48-56. Date of Electronic Publication: 2021 Nov 05.

Campsurus violaceus

Autor: Molineri, C., Salles, F. F., Emmerich, D.

Violaceus species group The following combination of characters defines this group: 1) in the male genitalia the pedestals (Figs. 1 ���8, 11, 28 ���33, 38��� 39) are subquadrate to subrectangular and somewhat flat, with the inner di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfa1084b84d484d6511d60ccc06995b6

Campsurus decoloratus Hagen

Autor: Molineri, C., Salles, F. F., Emmerich, D.

Campsurus decoloratus (Hagen) (Figs. 44���46) Palingenia decolorata Hagen 1861: 43. Campsurus decoloratus Eaton 1883 ���1888: 41. Material. Two female adults from USA: Texas, Montgomery Co., San Jacinto river at US 59, near Kingwood, 17.v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d350add703b9427692e16aeddd8047

Campsurus assimilis Traver

Autor: Molineri, C., Salles, F. F., Emmerich, D.

Campsurus assimilis Traver Campsurus assimilis Traver 1944: 39 (male, female); Dom��nguez et al. 2006: 567. Material. Not studied. Distribution. Brazil (Rio Grande do Sul). Diagnosis. Campsurus assimilis can be separated from the other species of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75c5e1f6f6dd1ff22e1dc0303681937c

The effects of vibrotactile masking on heartbeat detection: Evidence that somatosensory mechanoreceptors transduce heartbeat sensations.

Autor: Knapp-Kline K; Department of Psychology, Florida State University, Panama City Campus, Panama City, FL, USA., Ring C; School of Sport, Exercise & Rehabilitation Sciences, University of Birmingham, Birmingham, UK., Emmerich D; Department of Psychology, SUNY Stony Brook, Stony Brook, NY, USA., Brener J; Department of Psychology, SUNY Stony Brook, Stony Brook, NY, USA.

Publikováno v: Psychophysiology [Psychophysiology] 2021 Jun; Vol. 58 (6), pp. e13817. Date of Electronic Publication: 2021 Mar 26.