The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

Author:

Jezela‐Stanek Aleksandra12,Ciara Elżbieta2,Jurkiewicz Dorota2,Kucharczyk Marzena2,Jędrzejowska Maria23,Chrzanowska Krystyna H.2,Krajewska‐Walasek Małgorzata2,Żemojtel Tomasz45ORCID

Affiliation:

1. Department of Genetics and Clinical Immunology National Institute of Tuberculosis and Lung Diseases Warsaw Poland

2. Department of Medical Genetics The Children’s Memorial Health Institute Warsaw Poland

3. Mossakowski Medical Research Centre Neuromuscular UnitPolish Academy of Sciences Warsaw Poland

4. Genomics Platform Berlin Institute of Health Berlin Germany

5. Institute of Bioorganic Chemistry Polish Academy of Sciences Poznan Poland

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

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