Complex genomic rearrangements: an underestimated cause of rare diseases
Schuy, Jakob, Grochowski, Christopher M, Carvalho, Claudia M B, Lindstrand, Anna
Published in Trends in genetics (01.11.2022)
Published in Trends in genetics (01.11.2022)
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Journal Article
Measurement of biomechanical interactions at the stump-socket interface in lower limb prostheses
Noll, V., Wojtusch, J., Schuy, J., Grimmer, M., Beckerle, P., Rinderknecht, S.
Published in 2015 37th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) (01.08.2015)
Published in 2015 37th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) (01.08.2015)
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Conference Proceeding
Journal Article
Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis
Eisfeldt, Jesper, Schuy, Jakob, Stattin, Eva-Lena, Kvarnung, Malin, Falk, Anna, Feuk, Lars, Lindstrand, Anna
Published in International journal of molecular sciences (20.08.2022)
Published in International journal of molecular sciences (20.08.2022)
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Journal Article
Long-read genome sequencing required to resolve complex chromosomal rearrangements involving both the short and the long arm of chromosome 21
Schuy, J, Saether, KB, Lisfeld, J, Ek, M, Grochowski, CM, Rudolph, S, Fuchs, S, Neveling, K, Hempel, M, Hoischen, A, Hastie, A, Carvalho, C, Eisfeldt, J, Lindstrand, A
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2024)
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Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2024)
Conference Proceeding
Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
Schuy, Jakob, Eisfeldt, Jesper, Pettersson, Maria, Shahrokhshahi, Niloofar, Moslem, Mohsen, Nilsson, Daniel, Dahl, Niklas, Shahsavani, Mansoureh, Falk, Anna, Lindstrand, Anna
Published in Frontiers in genetics (04.02.2022)
Published in Frontiers in genetics (04.02.2022)
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Journal Article
A case of ring chromosome 21 with hemifacial microsomia, developmental and speech delay analysed with WGS and patient-derived iPS
Schuy, J, Eisfeldt, J, Pettersson, M, Shahrokhshahi, N, Shahsavani, M, Nilsson, D, Falk, A, Lindstrand, A
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2020)
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Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2020)
Conference Proceeding
Design and control of a robot for the assessment of psychological factors in prosthetic development
Beckerle, P., Christ, O., Wojtusch, J., Schuy, J., Wolff, K., Rinderknecht, S., Vogt, J., von Stryk, O.
Published in 2012 IEEE International Conference on Systems, Man, and Cybernetics (SMC) (01.10.2012)
Published in 2012 IEEE International Conference on Systems, Man, and Cybernetics (SMC) (01.10.2012)
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Conference Proceeding
Integrated measurement system for amputee gait analysis: A pilot study
Schuy, J., Rinderknecht, S.
Published in 2014 IEEE Healthcare Innovation Conference (HIC) (01.10.2014)
Published in 2014 IEEE Healthcare Innovation Conference (HIC) (01.10.2014)
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Conference Proceeding
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions
Bilgrav Saether, Kristine, Eisfeldt, Jesper, Bengtsson, Jesse, Lun, Ming Yin, Grochowski, Christopher M, Mahmoud, Medhat, Chao, Hsiao-Tuan, Rosenfeld, Jill A, Liu, Pengfei, Schuy, Jakob, Ameur, Adam, Hwang, James Paul, Sedlazeck, Fritz J, Bi, Weimin, Marom, Ronit, Nordgren, Ann, Carvalho, Claudia M B, Lindstrand, Anna
Published in medRxiv : the preprint server for health sciences (24.04.2024)
Published in medRxiv : the preprint server for health sciences (24.04.2024)
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Journal Article
Design & evaluation of a sensor minimal gait phase and situation detection Algorithm of Human Walking
Schuy, J., Mielke, T., Steinhausen, M., Beckerle, P., Rinderknecht, S.
Published in 2015 IEEE-RAS 15th International Conference on Humanoid Robots (Humanoids) (01.11.2015)
Published in 2015 IEEE-RAS 15th International Conference on Humanoid Robots (Humanoids) (01.11.2015)
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Conference Proceeding
Power-optimized stiffness and nonlinear position control of an actuator with Variable Torsion Stiffness
Beckerle, P., Wojtusch, J., Schuy, J., Strah, B., Rinderknecht, S., Stryk, O. V.
Published in 2013 IEEE/ASME International Conference on Advanced Intelligent Mechatronics (01.07.2013)
Published in 2013 IEEE/ASME International Conference on Advanced Intelligent Mechatronics (01.07.2013)
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Conference Proceeding
Dimensioning and evaluation of the elastic element in a Variable Torsion Stiffness actuator
Schuy, J., Beckerle, P., Faber, J., Wojtusch, J., Rinderknecht, S., Stryk, O. V.
Published in 2013 IEEE/ASME International Conference on Advanced Intelligent Mechatronics (01.07.2013)
Published in 2013 IEEE/ASME International Conference on Advanced Intelligent Mechatronics (01.07.2013)
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Conference Proceeding
Conception and evaluation of a novel variable torsion stiffness for biomechanical applications
Schuy, J., Beckerle, P., Wojtusch, J., Rinderknecht, S., von Stryk, O.
Published in 2012 4th IEEE RAS & EMBS International Conference on Biomedical Robotics and Biomechatronics (BioRob) (01.06.2012)
Published in 2012 4th IEEE RAS & EMBS International Conference on Biomedical Robotics and Biomechatronics (BioRob) (01.06.2012)
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Conference Proceeding