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Axel Schmidt

Showing results (131-140 of 160) with videos related to

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Acta Dermato-Venereologica|September 14, 2020
Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on SplicingSyed Ashraf Uddin, Nicole Cesarato, Aytaj Humbatova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 29, 2025
KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal modelsTehmeena Akhter, Zubair M Ahmed, Yaping Ji, et al.
Gastroenterologia Y Hepatologia|May 12, 2007
[Caecal granular cell tumours and Crohn's disease]David Núñez Hospital, Diego Sánchez Muñoz, Axel Schmidt Baumler, et al.
HGG Advances|January 2, 2023
Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of <i>de novo</i> mutationsHanna K Zieger, Leonie Weinhold, Axel Schmidt, et al.
Cell Death and Differentiation|June 17, 2017
The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteinsAlice Dreser, Jan Tilmann Vollrath, Antonio Sechi, et al.
NPJ Genomic Medicine|July 2, 2021
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19Axel Schmidt, Sophia Peters, Alexej Knaus, et al.
Pediatric Pulmonology|August 10, 2023
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected childrenKatharina Schütz, Axel Schmidt, Nicolaus Schwerk, et al.
The European Physical Journal. A, Hadrons and Nuclei|December 13, 2024
Radiative corrections: from medium to high energy experimentsAndrei Afanasev, Jan C Bernauer, Peter Blunden, et al.
Nature|February 19, 2026
Host control of persistent Epstein-Barr virus infectionAxel Schmidt, T Madhusankha Alawathurage, Friederike S David, et al.
F1000Research|September 30, 2024
NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant callingFriederike Hanssen, Gisela Gabernet, Famke Bäuerle, et al.
Pageof 16

Showing results (131-140 of 160) with videos related to

Sort By:
Pageof 16
Acta Dermato-Venereologica|September 14, 2020
Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on SplicingSyed Ashraf Uddin, Nicole Cesarato, Aytaj Humbatova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 29, 2025
KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal modelsTehmeena Akhter, Zubair M Ahmed, Yaping Ji, et al.
Gastroenterologia Y Hepatologia|May 12, 2007
[Caecal granular cell tumours and Crohn's disease]David Núñez Hospital, Diego Sánchez Muñoz, Axel Schmidt Baumler, et al.
HGG Advances|January 2, 2023
Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of <i>de novo</i> mutationsHanna K Zieger, Leonie Weinhold, Axel Schmidt, et al.
Cell Death and Differentiation|June 17, 2017
The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteinsAlice Dreser, Jan Tilmann Vollrath, Antonio Sechi, et al.
NPJ Genomic Medicine|July 2, 2021
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19Axel Schmidt, Sophia Peters, Alexej Knaus, et al.
Pediatric Pulmonology|August 10, 2023
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected childrenKatharina Schütz, Axel Schmidt, Nicolaus Schwerk, et al.
The European Physical Journal. A, Hadrons and Nuclei|December 13, 2024
Radiative corrections: from medium to high energy experimentsAndrei Afanasev, Jan C Bernauer, Peter Blunden, et al.
Nature|February 19, 2026
Host control of persistent Epstein-Barr virus infectionAxel Schmidt, T Madhusankha Alawathurage, Friederike S David, et al.
F1000Research|September 30, 2024
NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant callingFriederike Hanssen, Gisela Gabernet, Famke Bäuerle, et al.
Pageof 16