ℹ️
🇬🇧
Search
Search for people relevant for "Z chromosome"
Z chromosome
Person
Class
Person
Publication
Programmes
Export current view
MUDr. Alena Puchmajerová
External person at Second Faculty of Medicine
42 publications
Publications
publication
Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene - Case Report
2016 |
Second Faculty of Medicine
publication
Hypophosphatasia due to uniparental disomy
2015 |
Second Faculty of Medicine
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
A novel mutation of PTEN gene in a patient with Cowden syndrome with excessive papillomatosis of the lips, discrete cutaneous lesions, and gastrointestinal polyposis
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
Relationship between Genotype and Phenotype in Patients with Microdeletion of Chromosome 22q11
2001 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
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
Load more publications (32)
Loading network view...