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c disease
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MUDr. Martin Schwarz Ph.D.
External person at Second Faculty of Medicine
19 publications
Publications
publication
The Human Phenotype Ontology in 2024: phenotypes around the world
2024 |
Second Faculty of Medicine
publication
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
2024 |
Second Faculty of Medicine
publication
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
2023 |
Second Faculty of Medicine
publication
Ectodermal dysplasia: important role of complex dental care in its interdisciplinary management
2022 |
Second Faculty of Medicine
publication
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
2022 |
Second Faculty of Medicine
publication
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
2021 |
Second Faculty of Medicine
publication
Possibilities to Simplify Diagnosis and Therapy of Rare Diseases in Dentistry Using an Expert System
2021 |
Second Faculty of Medicine
publication
A girl with an inherited central deletion 22q11.21 resulting in DiGeorge syndrome without typical congenital anomalies
2019 |
Central Library of Charles University, Second Faculty of Medicine
publication
A girl with an inherited central deletion 22q11.21 resulting in DiGeorge syndrome without typical congenital anomalies
Publication without faculty affiliation
publication
Molecular genetic cause of non-syndromic congenital and juvenile cataracts in the Czech population
Publication without faculty affiliation
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