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Fulya Taylan | Researchclopedia

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Fulya Taylan

Karolinska University Hospital ORCID

80

Works

1,778

Citations

24

h-index

39

i10-index

Research Topics

Genomics and Rare Diseases Connective tissue disorders research Acute Lymphoblastic Leukemia research

Affiliations

Karolinska University Hospital2015–2025

Science for Life Laboratory2013–2017

Karolinska Institutet2013–2025

Acıbadem University2008–2012

Institute of Molecular Medicine2016–2016

Top Works

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement

Ines Kapferer‐Seebacher,Melanie Pepin,et al.

2016116 citations

Bone health and treatments

Dermatology and Skin Diseases

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Giedré Grigelioniené,Hiroshi Suzuki,et al.

2019105 citations

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

Carlos R. Ferreira,Zhi‐Jie Xia,et al.

201872 citations

Different mutations in <i>PDE4D</i> associated with developmental disorders with mirror phenotypes

Anna Lindstrand,Giedré Grigelioniené,et al.

201366 citations

A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset

Ender Altıok,Figen Aksoy,et al.

201262 citations

<i>PLS3</i> Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization

Anders Kämpe,Alice Costantini,et al.

201752 citations

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

Anders Kämpe,Alice Costantini,et al.

201750 citations

Spondyloocular Syndrome: Novel Mutations in <i>XYLT2</i> Gene and Expansion of the Phenotypic Spectrum

Fulya Taylan,Alice Costantini,et al.

201648 citations

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis

Fulya Taylan,Daniel Nilsson,et al.

201539 citations