Publications by authors named "Timur Tuncali"

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Somatic variants and frequencies of familial myeloma germline predisposition genes among patients within the CoMMpass dataset.
Erman Akkus, Timur Tuncalı, Hasan Yalim Akin, Meral Beksaç

Expert Rev Hematol· January 2026

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Familial Multiple Myeloma: Insights From Epidemiology and Underlying Germline Genetic Predisposition to the Clinic.
Erman Akkus, Timur Tuncalı, Meral Beksac

Clin Lymphoma Myeloma Leuk· June 2025

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Germline genetic variants in Turkish familial multiple myeloma/monoclonal gammopathy of undetermined significance cases.
Erman Akkus, Timur Tuncalı, Hasan Yalım Akın, Yıldız Aydın, Sevgi Kalayoğlu Beşışık

Br J Haematol· March 2024

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X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene.
Ayse Oktem, Pelin Kocyigit, Timur Tuncalı, Ulviyye Kahraman, Sumeyra Ozbolat

Indian J Dermatol· February 2024

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Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.
Aslıhan Kiraz, Ozlem Sezer, Adem Alemdar, Sezin Canbek, Nilgun Duman

J Med Virol· February 2023

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Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Munis Dundar, Umut Fahrioglu, Saliha Handan Yildiz, Burcu Bakir-Gungor, Sehime Gulsun Temel, Timur Tuncali

Funct Integr Genomics· June 2022

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Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).
Ezgi Gökpınar İli, Elifcan Taşdelen, Ceren Damla Durmaz, Şule Altıner, Timur Tuncalı

Am J Med Genet A· June 2022

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ROHMM-A flexible hidden Markov model framework to detect runs of homozygosity from genotyping data.
Gökalp Çelik, Timur Tuncalı

Hum Mutat· February 2022

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Right Anterior Theta Hypersynchrony as a Quantitative Measure Associated with Autistic Traits and K-Cl Cotransporter KCC2 Polymorphism.
Simge Aykan, Meghan H Puglia, Canan Kalaycıoğlu, Kevin A Pelphrey, Timur Tuncalı

J Autism Dev Disord· January 2022

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Coexistence of Ovarian Granulose Cell Tumor, Congenital Adrenal Hyperplasia, and Triple Translocation: Is a Consequence or Coincidence?
Sami Akbulut, Senay Durmaz Ceylan, Timur Tuncali, Nilgun Sogutcu

J Gastrointest Cancer· June 2021

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A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome.
Ceren D Durmaz, Gareth Evans, Miriam J Smith, Pelin Ertop, Bengü N Akay

Cytogenet Genome Res· May 2018

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Lack of the Association of the PTPN22 C1858T Gene Polymorphism With Susceptibility to Familial Mediterranean Fever.
Orhan Küçükşahin, Zeynep Şeker, Ali Şahin, Gülay Kinikli, Timur Tuncali

Arch Rheumatol· June 2016

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Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature.
Arzu Kilic, Seray Külcü Çakmak, Timur Tuncali, Ozlem Koz, Esra Ozhamamci

Postepy Dermatol Alergol· December 2015

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Epstein-barr virus-negative post-transplant lymphoproliferative diseases: three distinct cases from a single center.
Sule Mine Bakanay, Gülşah Kaygusuz, Pervin Topçuoğlu, Sule Sengül, Timur Tunçalı

Turk J Haematol· March 2014

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Oesophageal achalasia misdiagnosed as uncontrolled asthma.
Ömür Aydın, Cabir Yüksel, Timur Tuncalı, Murat Ozkan, Akın Kaya

Tuberk Toraks· December 2013

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Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region.
Nursel H Elcioglu, Burcu Akin, Ebru Toker, Mustafa Elcioglu, Ali Kaya, Timur Tuncali

Am J Med Genet A· June 2007

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TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy.
Feryal Cabuk, Halil G Karabulut, Timur Tuncali, Selmin Karademir, Mithat Bozdayi

Turk J Pediatr· May 2007

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The contribution of genotypes at the MICA gene triplet repeat polymorphisms and MEFV mutations to amyloidosis and course of the disease in the patients with familial Mediterranean fever.
Nuran Turkcapar, Timur Tuncali, Sim Kutlay, Basak Yalcin Burhan, Gulay Kinikli

Rheumatol Int· April 2007

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A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.
Pinar Bayrak-Toydemir, Jamie McDonald, Nurten Akarsu, Reha M Toydemir, Fernanda Calderon, Timur Tuncali

Am J Med Genet A· October 2006

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Is vitamin D hypothesis for schizophrenia valid? Independent segregation of psychosis in a family with vitamin-D-dependent rickets type IIA.
Suzan Ozer, Aylin Uluşahin, Semra Ulusoy, Hamza Okur, Turgay Coşkun, Timur Tuncali

Prog Neuropsychopharmacol Biol Psychiatry· March 2004

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