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FISH
Person
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Person
Publication
Programmes
MUDr. Alena Puchmajerová
External person at Second Faculty of Medicine
42 publications
Publications
publication
Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing
2012 |
Second Faculty of Medicine
publication
Laboratory genetic examination in pediatrics
2007 |
Second Faculty of Medicine
publication
DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion
2003 |
Second Faculty of Medicine
publication
Williams-Beuren syndrome
2000 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Chromosomal Aberration in Inborn Cardiac Defects and their Diagnosis Using the FISH Method
1999 |
Second Faculty of Medicine
publication
Inherited ichthyoses: molecular causes of the disease in Czech patients
2019 |
Publication without faculty affiliation
publication
Two Cases of CNS Atypical Theratoid Rhabdoid Tumor and Review of Literature
2017 |
Second Faculty of Medicine
publication
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring
2016 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králové
publication
Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis of the disease
2016 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children
2016 |
Second Faculty of Medicine
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