Automated segmentation and length measurement of metacarpal and phalangeal bones for hand radiograph evaluation
Philip Gutberlet, Aron Kirchhoff, Eike Bolmer, Philipp Schmidt et autres
1 citationScientific Reports
Peter Krawitz
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280Publications signalées
12007Citations signalées
3Affiliations récentes
Institutions déclarées
Domaines associés
Genomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesGenetic Associations and EpidemiologyGenetics and Neurodevelopmental DisordersLysosomal Storage Disorders Research
Publications récentes
Further characterization of the BRSK2-associated neurodevelopmental disorder
Palak Singhal, Tzung‐Chien Hsieh, Nadja Ehmke, Elena Bacchelli et autres
0 citationsEuropean Journal of Human Genetics
Self-explaining artificial intelligence for the classification of B cell non-Hodgkin lymphoma: A diagnostic decision support study
Michael C. Thrun, Jörg Hoffmann, Stefan W. Krause, Peter Krawitz et autres
0 citationsPLoS Medicine
Leveraging Next-Generation Phenotyping in Dysmorphology to Support Variant Interpretation in Mowat-Wilson Syndrome
Tzung‐Chien Hsieh, Dylan Todd, Taylor Warner, Kayla Blankenship et autres
1 citationNeurology Genetics
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus et autres
1 citationMovement Disorders
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rocío Rius, Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe et autres
7 citationsNature Genetics
Novel morphometric features in hand radiographs for diagnostic applications
Philipp Schmidt, Eike Bolmer, Alexandra Keller, Julián Nevado et autres
0 citationsResearch Square
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
Benita Menden, Rana D. Incebacak Eltemur, German Demidov, Marc Sturm et autres
1 citationNature Communications
Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON)
Ayda Abolhassani, T. Madhusankha Alawathurage, Axel Schmidt, Fabian Brand et autres
0 citationsHuman Genomics
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies
Nataliya Di Donato, Andrew Thom, Andreas Rump, Johannes N. Greve et autres
4 citationsThe American Journal of Human Genetics
Additional file 1 of Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON)
Ayda Abolhassani, T. Madhusankha Alawathurage, Axel Schmidt, Fabian Brand et autres
0 citationsFigshare
Additional file 1 of Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON)
Ayda Abolhassani, T. Madhusankha Alawathurage, Axel Schmidt, Fabian Brand et autres
0 citationsFigshare
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