Denna sida på svenska
Loading profile information...


Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Wang H, Salter Cg, Refai O, Hardy H, Barwick Kes, Akpulat U, et al
Brain : a journal of neurology 2017;140(11):2838-2850

CRTAP variants in early-onset osteoporosis and recurrent fractures
Costantini A, Vuorimies I, Mäkitie R, Mäyränpää Mk, Becker J, Pekkinen M, et al
American journal of medical genetics. Part A 2017;173(3):806-808

Intragenic Copy Number Variation in the Filaggrin Gene in Ethiopian Patients with Atopic Dermatitis
Fernandez K, Asad S, Taylan F, Wahlgren Cf, Bilcha Kd, Nordenskjöld M, et al
Pediatric dermatology 2017;34(3):e140-e141

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
Hammarsjo A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha Km, et al

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization
Kämpe Aj, Costantini A, Levy-shraga Y, Zeitlin L, Roschger P, Taylan F, et al
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2017;32(12):2394-2404

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants
Kämpe Aj, Costantini A, Mäkitie Re, Jäntti N, Valta H, Mäyränpää M, et al
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2017;28(10):3023-3032

Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility
Mäkitie Re, Kämpe Aj, Taylan F, Mäkitie O
Current osteoporosis reports 2017;15(4):303-310

Two novel mutations in XYLT2 cause spondyloocular syndrome
Taylan F, Abali Zy, Jantti N, Gunes N, Darendeliler F, Bas F, et al

Two novel mutations in XYLT2 cause spondyloocular syndrome
Taylan F, Yavaş Abalı Z, Jäntti N, Güneş N, Darendeliler F, Baş F, et al
American journal of medical genetics. Part A 2017;173(12):3195-3200

Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes
Taylan F, Mäkitie O
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2016;48(11):745-754

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy
Kvarnung M, Taylan F, Nilsson D, Albåge M, Nordenskjöld M, Anderlid Bm, et al
Clinical genetics 2016;89(1):99-103

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
Mol Basis Periodontal Eds Consorti, Kapferer-seebacher I, Pepin M, Werner R, Aitman Tj, Nordgren A, et al

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum
Taylan F, Costantini A, Coles N, Pekkinen M, Héon E, Şıklar Z, et al
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2016;31(8):1577-85

The tight junction gene Claudin-1 is associated with atopic dermatitis among Ethiopians
Asad S, Winge Mc, Wahlgren Cf, Bilcha Kd, Nordenskjöld M, Taylan F, et al
Journal of the European Academy of Dermatology and Venereology : JEADV 2016;30(11):1939-1941

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis
Taylan F, Nilsson D, Asad S, Lieden A, Wahlgren Cf, Winge Mc, et al
The Journal of allergy and clinical immunology 2015;136(2):507-9.e19

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Brownstein Ca, Beggs Ah, Homer N, Merriman B, Yu Tw, Flannery Kc, et al
GENOME BIOLOGY 2014;15(3):R53-

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid Bm, et al
Journal of medical genetics 2014;51(1):45-54

A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset
Altiok E, Aksoy F, Perk Y, Taylan F, Kim Pw, Ilikkan B, et al
CLINICAL IMMUNOLOGY 2012;145(1):77-81

Meiotic recombinations within major histocompatibility complex of human embryos
Taylan F, Altiok E
IMMUNOGENETICS 2012;64(11):839-44

Pulmonary alveolar microlithiasis with homozygous c.316G > C (p.G106R) mutation: a case report
Özbudak Ih, Başsorgun Ci, Ozbılım G, Lülecı G, Sarper A, Erdoğan A, et al
Turk patoloji dergisi 2012;28(3):282-5

Mutations in influenza A virus (H5N1) and possible limited spread, Turkey, 2006
Altiok E, Taylan F, Yenen Os, Demirkeser G, Bozaci M, Onel D, et al

Show all publications