Fulya Taylan

Karolinska Institutet

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Articles (19)

Collaborators (20)

Raquel Vaz

Karolinska Institutet

Tobias Laurell

Head of Department

Susanne Fransson

University of Gothenburg

Ana Beleza-Meireles

University Hospitals Bristol and Weston NHS Foundation Trust

UNITED KINGDOM

Anna Lindstrand

Karolinska Institutet

Ann Nordgren

University of Gothenburg

Sabine Koch

Karolinska Institutet

Outi Mäkitie

Karolinska Institutet

Teresita Díaz de Ståhl

Associate Professor

Karolinska Institutet

Zahra Haider

Karolinska Institutet

Maria Lindskog

senior lecturer

Uppsala Universitet Uppsala biomedicinska centrum

Andrei Chagin

University of Gothenburg

Arja Harila-Saari

Professor of paediatrics

Uppsala University

Giorgio Tettamanti

Karolinska Institutet

Kristina Lagerstedt Robinson

Karolinska Institutet

Giedre Grigelioniene

Isabel Tapia-Paez

Karolinska Institutet

Lorenzo Botto

University of Utah

UNITED STATES

sailan wang

Karolinska Institutet

Daniel Nilsson

Karolinska Institutet

Fulya Taylan

Research Interests

Explore related searches

Contact this professor

Articles (19)

Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2‐Related Rothmund–Thomson Syndrome

Uncommon Variants in FLG2 and NOD2 Are Associated with Atopic Dermatitis in the Ethiopian Population.

Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature

Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy

Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International

Seasonal variation exists in B-Cell Precursor Childhood Acute Lymphoblastic Leukemia diagnosis, but not in Acute Myeloid Leukemia, Brain Tumors or Solid Tumors - a Swedish population-based study

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Smart variant filtering - A blueprint solution for massively parallel sequencing-based variant analysis

Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer

Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders

International Undiagnosed Diseases Programs (UDPs): components and outcomes

A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins

Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy

Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia

Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia

Collaborators (20)

Raquel Vaz

Tobias Laurell

Susanne Fransson

Ana Beleza-Meireles

Anna Lindstrand

Ann Nordgren

Sabine Koch

Outi Mäkitie

Teresita Díaz de Ståhl

Zahra Haider

Maria Lindskog

Andrei Chagin

Arja Harila-Saari

Giorgio Tettamanti

Kristina Lagerstedt Robinson

Giedre Grigelioniene

Isabel Tapia-Paez

Lorenzo Botto

sailan wang

Daniel Nilsson

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