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41 results for Pehlivan,+Davut

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ArticlesPeer ReviewedFull Text
Simulation-Based Cost Evaluation of Maritime Transportation
Author / Creator:Pehlivan, Davut ; Çiçek, Kadir
Publisher:Galenos Publishing House
Journal title:Journal of ETA maritime science, 2023-12, Vol.11 (4), p.270-281
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NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
Author / Creator:Martin, Paige B. ; Kigoshi-Tansho, Yu ; Sher, Roger B. ; Ravenscroft, Gianina ; Stauffer, Jennifer E. ; Kumar, Rajesh ; Yonashiro, Ryo ; Müller, Tina ; Griffith, Christopher ; Allen, William ; Pehlivan, Davut ; Harel, Tamar ; Zenker, Martin ; Howting, Denise ; Schanze, Denny ; Faqeih, Eissa A. ; Almontashiri, Naif A. M. ; Maroofian, Reza ; Houlden, Henry ; Mazaheri, Neda ; Galehdari, Hamid ; Douglas, Ganka ; Posey, Jennifer E. ; Ryan, Monique ; Lupski, James R. ; Laing, Nigel G. ; Joazeiro, Claudio A. P. ; Cox, Gregory A.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-09, Vol.11 (1), p.4625-4625, Article 4625
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Phenotypic expansion illuminates multilocus pathogenic variation
Author / Creator:Karaca, Ender ; Posey, Jennifer E. ; Coban Akdemir, Zeynep ; Pehlivan, Davut ; Harel, Tamar ; Jhangiani, Shalini N. ; Bayram, Yavuz ; Song, Xiaofei ; Bahrambeigi, Vahid ; Yuregir, Ozge Ozalp ; Bozdogan, Sevcan ; Yesil, Gozde ; Isikay, Sedat ; Muzny, Donna ; Gibbs, Richard A. ; Lupski, James R.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2018-12, Vol.20 (12), p.1528-1537
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Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome
Author / Creator:Pehlivan, Davut ; Aras, Sukru ; Glaze, Daniel G. ; Ak, Muharrem ; Suter, Bernhard ; Motil, Kathleen J.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.52-52, Article 52
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Replicative mechanisms for CNV formation are error prone
Author / Creator:Carvalho, Claudia M B ; Pehlivan, Davut ; Ramocki, Melissa B ; Fang, Ping ; Alleva, Benjamin ; Franco, Luis M ; Belmont, John W ; Hastings, P J ; Lupski, James R
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-11, Vol.45 (11), p.1319-1326
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Exploring Research Trends on Climate Change: Insights into Port Resilience and Sustainability
Author / Creator:Türkistanlı, Taha Talip ; Özispa, Nergis ; Tuğdemir Kök, Gökçe ; Özdemir, Ünal ; Pehlivan, Davut
Publisher:Basel: MDPI AG
Journal title:Sustainability, 2025-04, Vol.17 (8), p.3542
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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
Author / Creator:Carvalho, Claudia M B ; Ramocki, Melissa B ; Pehlivan, Davut ; Franco, Luis M ; Gonzaga-Jauregui, Claudia ; Fang, Ping ; McCall, Alanna ; Pivnick, Eniko Karman ; Hines-Dowell, Stacy ; Seaver, Laurie H ; Friehling, Linda ; Lee, Sansan ; Smith, Rosemarie ; del Gaudio, Daniela ; Withers, Marjorie ; Liu, Pengfei ; Cheung, Sau Wai ; Belmont, John W ; Zoghbi, Huda Y ; Hastings, P J ; Lupski, James R
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2011-11, Vol.43 (11), p.1074-1081
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Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
Author / Creator:Bayram, Yavuz ; Karaca, Ender ; Coban Akdemir, Zeynep ; Yilmaz, Elif Ozdamar ; Tayfun, Gulsen Akay ; Aydin, Hatip ; Torun, Deniz ; Bozdogan, Sevcan Tug ; Gezdirici, Alper ; Isikay, Sedat ; Atik, Mehmed M. ; Gambin, Tomasz ; Harel, Tamar ; El-Hattab, Ayman W. ; Charng, Wu-Lin ; Pehlivan, Davut ; Jhangiani, Shalini N. ; Muzny, Donna M. ; Karaman, Ali ; Celik, Tamer ; Yuregir, Ozge Ozalp ; Yildirim, Timur ; Bayhan, Ilhan A. ; Boerwinkle, Eric ; Gibbs, Richard A. ; Elcioglu, Nursel ; Tuysuz, Beyhan ; Lupski, James R.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2016-02, Vol.126 (2), p.762-778
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Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders
Author / Creator:Bozkurt-Yozgatli, Tugce ; Pehlivan, Davut ; Gibbs, Richard A. ; Sezerman, Ugur ; Posey, Jennifer E. ; Lupski, James R. ; Coban-Akdemir, Zeynep
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2024-04, Vol.17 (1), p.85-9, Article 85
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Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders
Author / Creator:Bozkurt‑Yozgatli, Tugce ; Pehlivan, Davut ; Gibbs, Richard A. ; Sezerman, Ugur ; Posey, Jennifer E. ; Lupski, James R. ; Coban‑Akdemir, Zeynep
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2024-08, Vol.17 (1), p.201-6, Article 201
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Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy
Author / Creator:Calame, Daniel G. ; Bakhtiari, Somayeh ; Logan, Rachel ; Coban-Akdemir, Zeynep ; Du, Haowei ; Mitani, Tadahiro ; Fatih, Jawid M. ; Hunter, Jill V. ; Herman, Isabella ; Pehlivan, Davut ; Jhangiani, Shalini N. ; Person, Richard ; Schnur, Rhonda E. ; Jin, Sheng Chih ; Bilguvar, Kaya ; Posey, Jennifer E. ; Koh, Sookyong ; Firouzabadi, Saghar G. ; Alehabib, Elham ; Tafakhori, Abbas ; Esmkhani, Sahra ; Gibbs, Richard A. ; Noureldeen, Mahmoud M. ; Zaki, Maha S. ; Marafi, Dana ; Darvish, Hossein ; Kruer, Michael C. ; Lupski, James R.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-12, Vol.23 (12), p.2455-2460
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Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent‐oriented outcome measures
Author / Creator:Ak, Muharrem ; Suter, Bernhard ; Akturk, Zekeriya ; Harris, Holly ; Bowyer, Kristina ; Mignon, Laurence ; Pasupuleti, Sasidhar ; Glaze, Daniel G. ; Pehlivan, Davut
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2022-08, Vol.10 (8), p.e1989-n/a
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Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
Author / Creator:Martin, Paige B. ; Kigoshi-Tansho, Yu ; Sher, Roger B. ; Ravenscroft, Gianina ; Stauffer, Jennifer E. ; Kumar, Rajesh ; Yonashiro, Ryo ; Müller, Tina ; Griffith, Christopher ; Allen, William ; Pehlivan, Davut ; Harel, Tamar ; Zenker, Martin ; Howting, Denise ; Schanze, Denny ; Faqeih, Eissa A. ; Almontashiri, Naif A. M. ; Maroofian, Reza ; Houlden, Henry ; Mazaheri, Neda ; Galehdari, Hamid ; Douglas, Ganka ; Posey, Jennifer E. ; Ryan, Monique ; Lupski, James R. ; Laing, Nigel G. ; Joazeiro, Claudio A. P. ; Cox, Gregory A.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-10, Vol.11 (1), p.5022-5022, Article 5022
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Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2‐allelic disorders
Author / Creator:Pehlivan, Davut ; Huang, Chengjun ; Harris, Holly K. ; Coquery, Christine ; Mahat, Aditya ; Maletic‐Savatic, Mirjana ; Mignon, Laurence ; Aras, Sukru ; Glaze, Daniel G. ; Layne, Charles S. ; Sahelijo, Leonardo ; Zoghbi, Huda Y. ; McGinley, Matthew J. ; Suter, Bernhard
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2025-02, Vol.12 (2), p.433-447
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Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy
Author / Creator:Punetha, Jaya ; Karaca, Ender ; Gezdirici, Alper ; Lamont, Ryan E. ; Pehlivan, Davut ; Marafi, Dana ; Appendino, Juan P. ; Hunter, Jill V. ; Akdemir, Zeynep C. ; Fatih, Jawid M. ; Jhangiani, Shalini N. ; Gibbs, Richard A. ; Innes, A. Micheil ; Posey, Jennifer E. ; Lupski, James R.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2019-08, Vol.6 (8), p.1395-1406
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Downregulation of ING3 mRNA expression predicts poor prognosis in head and neck cancer
Author / Creator:Gunduz, Mehmet ; Beder, Levent Bekir ; Gunduz, Esra ; Nagatsuka, Hitoshi ; Fukushima, Kunihiro ; Pehlivan, Davut ; Cetin, Eren ; Yamanaka, Noboru ; Nishizaki, Kazunori ; Shimizu, Kenji ; Nagai, Noriyuki
Publisher:Melbourne, Australia: Blackwell Publishing Asia
Journal title:Cancer science, 2008-03, Vol.99 (3), p.531-538
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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy
Author / Creator:Marafi, Dana ; Mitani, Tadahiro ; Isikay, Sedat ; Hertecant, Jozef ; Almannai, Mohammed ; Manickam, Kandamurugu ; Abou Jamra, Rami ; El‐Hattab, Ayman W. ; Rajah, Jaishen ; Fatih, Jawid M. ; Du, Haowei ; Karaca, Ender ; Bayram, Yavuz ; Punetha, Jaya ; Rosenfeld, Jill A. ; Jhangiani, Shalini N. ; Boerwinkle, Eric ; Akdemir, Zeynep C. ; Erdin, Serkan ; Hunter, Jill V. ; Gibbs, Richard A. ; Pehlivan, Davut ; Posey, Jennifer E. ; Lupski, James R.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2020-05, Vol.7 (5), p.610-627
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Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant
Author / Creator:Calame, Daniel G. ; Fatih, Jawid M. ; Herman, Isabella ; Coban‐Akdemir, Zeynep ; Du, Haowei ; Mitani, Tadahiro ; Jhangiani, Shalini N. ; Marafi, Dana ; Gibbs, Richard A. ; Posey, Jennifer E. ; Mehta, Vidya P. ; Mohila, Carrie A. ; Abid, Farida ; Lotze, Timothy E. ; Pehlivan, Davut ; Adesina, Adekunle M. ; Lupski, James R.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2021-10, Vol.8 (10), p.2052-2058
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A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
Author / Creator:Hanchard, Neil A ; Carvalho, Claudia MB ; Bader, Patricia ; Thome, Aaron ; Omo-Griffith, Lisa ; del Gaudio, Daniela ; Pehlivan, Davut ; Fang, Ping ; Schaaf, Christian P ; Ramocki, Melissa B ; Lupski, James R ; Cheung, Sau Wai
Publisher:England: BioMed Central
Journal title:BMC genetics, 2012-08, Vol.13 (1), p.71-71, Article 71
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The role of GSTM1 gene polymorphisms in lung cancer development in Turkish population
Author / Creator:Demir, Adalet ; Altin, Sedat ; Pehlivan, Davut ; Demir, Mulahim ; Yakar, Fatih ; Seyhan, Ekrem ; Dincer, Seyyit
Publisher:India: BioMed Central Ltd
Journal title:Journal of carcinogenesis, 2007-09, Vol.6 (1), p.13-13
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Showing 1 to 20 of 41 results

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Simulation-Based Cost Evaluation of Maritime Transportation

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NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

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Phenotypic expansion illuminates multilocus pathogenic variation

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Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome

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Replicative mechanisms for CNV formation are error prone

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Exploring Research Trends on Climate Change: Insights into Port Resilience and Sustainability

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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

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Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

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Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders

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Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders

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Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

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Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent‐oriented outcome measures

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Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

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Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2‐allelic disorders

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Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

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Downregulation of ING3 mRNA expression predicts poor prognosis in head and neck cancer

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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

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Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

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A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

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The role of GSTM1 gene polymorphisms in lung cancer development in Turkish population

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