MUDr. Alena Puchmajerova
pediatrics and medical genetics
pediatrics and medical genetics
Overview
Country, City
Czechia, Prague
Health facility
Gennet Clinic Letna Prague
Medical unit
Department of genetics
About the doctor
Skills & Expertise
genetics
cancer
medical genetics
gene
mutation
pediatrics
children
inherited ichthyoses
fanconi anemia
cowden syndrome
pontocerebellar hypoplasia
polycystic kidney
endometrial cancer
breast cancer
hypoplasia
phenotype
breast
anemia
kidney
hereditary
noonanlike syndrome
gene mutation
biallelic mutations
gorlingoltz syndrome
6q deletions
deficiency
22q11 deletion
fancd1brca2 mutations
rit1 mutation
pms2 deficiency
gastrointestinal polyposis
peutzjeghers syndrome
odontogenic keratocysts
tp53 mutation
brca2
aorta
kabuki syndrome
lifraumeni syndrome
genetic disorders
basal cell
rectal cancer
paraganglioma
biallelic fancd1brca2 mutations
mutation pten gene
mutations stk11 gene
loose anagen hair
chromosomes
coarctation
papillomatosis
deletion
Gallery
Resume
CV (Curriculum Vitae)
Education
- 1993 Studied human medicine at the Charles University
- Obtaining a license for medical practice
- 1996 Obtaining specialization in pediatrics
- Received additional qualifications in the field of medical genetics
Experience
- 1993 Department of neonatology at the Obstetrics and Gynecology Clinic near Apolinar
- Internship at the Institute of Biology and Medical Genetics of the University of Medicine in Motola
- Internship at the Department of genetics of the Charles University
- 2017 Department of genetics of the Charles University
- 2017 Department of genetics at the Gennet Clinic Letna Prague
- Department of genetics at the Gennet Clinic Liberec
Awards & Memberships
- Member of the Czech Society of Medical Genetics
Languages
English
Czech
Publications
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
15 August, 2023
Germline multigene panel testing of patients with endometrial cancer.
12 April, 2023
Inherited ichthyoses: molecular causes of the disease in Czech patients.
2 May, 2019
Location
Kostelní, 292/9, 170 00 Prague, Czechia
FAQ
Where does the doctor practice?
What is the specialization of MUDr. Alena Puchmajerova?
The primary specialization of the doctor is pediatrics and medical genetics.
What is the experience of the specialist?
MUDr. Alena Puchmajerova has been practicing for more than 31 years.
MUDr. Alena Puchmajerova
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