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MUDr. Alena Puchmajerova working place, Gennet Clinic Letna Prague
MUDr. Alena Puchmajerova
Excellent
AiroScore
9.80

MUDr. Alena Puchmajerova

pediatrics and medical genetics
pediatrics and medical genetics
User ScoreExperienceRatingPrice RangePublicationsMedia FilesOnline Consultations
98%31 years9.8/10$$341No

Overview

Country, City
Czechia, Prague
Health facility
Gennet Clinic Letna Prague
Medical unit
Department of genetics

About the doctor

Dr. Alena Puchmajerova is an experienced doctor with 31 years of practice in pediatrics and medical genetics. She obtained her medical degree from Charles University and specialized in pediatrics in 1996. Dr. Puchmajerova also received additional qualifications in medical genetics. Throughout her career, Dr. Puchmajerova has worked in various prestigious institutions, including the Department of Neonatology at the Obstetrics and Gynecology Clinic near Apolinar and the Department of Genetics at Charles University. She has also been a member of the Czech Society of Medical Genetics. Her extensive experience and involvement in these institutions highlight her expertise in the field. Dr. Puchmajerova's contributions to the medical field are further evident through her 34 scientific publications. These publications cover a range of topics, including genetic disorders such as Pontocerebellar hypoplasia and Noonan syndrome, as well as the molecular causes of inherited ichthyoses and endometrial cancer. Her research and publications demonstrate her commitment to advancing medical knowledge and improving patient care. Dr. Alena Puchmajerova's extensive experience, specialization in pediatrics and medical genetics, and contributions to scientific research make her a highly skilled and knowledgeable doctor. Her expertise in these fields allows her to provide exceptional patient care and treatment.

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 flag
English
Czech flag
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

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.

What is the rating of the doctor?

What topics does MUDr. Alena Puchmajerova expert at?

The doctor has excellent knowledge in genetics, cancer, medical genetics, gene, mutation.

Is the specialist involved in the research?

Where can I see the work of the doctor?

AiroMedical gallery has 1 image related to MUDr. Alena Puchmajerova.

Does the specialist offer online consultations?

No, MUDr. Alena Puchmajerova doesn’t perform virtual appointments.

MUDr. Alena Puchmajerova
MUDr. Alena Puchmajerova

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