Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Maria K Haanpää

7PUBLICATIONS
37CO-AUTHORS
Cardiovascular medicine and haematology not elsewhere classifiedNeurogeneticsMedical mycologyEducational technology and computingEpigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (7)

Sort by Publication Date:
|May 22, 2024
Comparison of the ABC and ACMG systems for variant classification.

Gunnar Houge, Eirik Bratland, Ingvild Aukrust

|Apr 12, 2022
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic <i>TMC1</i> Variants.

Minna Kraatari-Tiri, Maria K Haanpää, Tytti Willberg

|Aug 30, 2021
Report of a novel missense mutation in the <i>MECP2</i> gene in a middle-aged man with intellectual disability syndrome.

Maria Arvio, Maria Haanpää, Pia Pohjola

|Apr 29, 2021
Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr.

Pedro A Sanchez-Lara, Katheryn Grand, Maria K Haanpää

|Jun 09, 2019
High-Resolution Bisulfite-Sequencing of Peripheral Blood DNA Methylation in Early-Onset and Familial Risk Breast Cancer Patients.

Justin Chen, Maria K Haanpää, Joshua J Gruber

|Jan 25, 2019
ALG11-CDG syndrome: Expanding the phenotype.

Maria K Haanpää, Bobby G Ng, Natalie M Gallant

Pageof 2

Frequent Collaborators

1 joint publications

Maria Arvio

1 joint publications

Bobby G Ng

1 joint publications

Virginia Kimonis

1 joint publications

Eric A Muller

1 joint publications

Justin Chen

1 joint publications

James M Ford

1 joint publications

Pedro A Sanchez-Lara

1 joint publications

Katheryn Grand

1 joint publications

Raymond Wang

1 joint publications

Deepika D'Cunha Burkardt

Frequent Collaborators

1 joint publications

Maria Arvio

1 joint publications

Bobby G Ng

1 joint publications

Virginia Kimonis

1 joint publications

Eric A Muller

Top Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on : Jan 16, 2019

11.0K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

9.9K
An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
07:44

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants

Published on : May 22, 2020

27.7K
See more related videos

Top Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on : Jan 16, 2019

11.0K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

9.9K
An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
07:44

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants

Published on : May 22, 2020

27.7K
See more related videos