Search Results - "DEMİR, Şenol"

New Ostrowski Type Inequalities for Trigonometrically Convex Functions Via Classical Integrals by DEMİR, Şenol, MADEN, Selahattin

“…In the paper, we introduce the class of trigonometrically convex functions and using the Hölder, Hölder-Işcan, Power-mean and Improved power-mean integral…”
Get full text

On new Simpson’s type ınequalities for trigonometrically convex functions with applications by DEMİR, Şenol, MADEN, Selahattin, İŞCAN, İmdat, KADAKAL, Mahir

“…The aim of this article is to define a special case of h- convex function, namely the notion of a trigonometrically convex function. Using the Hölder,…”
Get full text

First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature by Demir, Şenol, Söylemez, Mehmet A., Arman, Ahmet, Ata, Pınar

“…Introduction: Feingold syndrome type 2 (FGLDS2) is an ultra-rare genetic disorder characterized by short stature, microcephaly, digital abnormalities, and…”
Get full text

A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys) by Demir, Şenol, Alavanda, Ceren, Yeşil, Gözde, Aslanger, Ayça Dilruba, Ateş, Esra Arslan

“…Introduction: Myhre syndrome (MS; OMIM #139210) is a rare connective tissue disorder presenting with cardiovascular, respiratory, gastrointestinal, and…”
Get full text

PB2657: DIFFERENT TYPES OF LEUKEMIAS AND BLEEDING DISORDER DETECTED IN A TURKISH FAMILY WITH GERMLINE RUNX1 MUTATION FOR THE FIRST TIME by Ata, Pinar, Demir, Şenol, Arikan, Fatma, Toptas, Tayfur, Arman, Ahmet

Get full text

Secondary findings in 622 Turkish clinical exome sequencing data by Arslan Ateş, Esra, Türkyilmaz, Ayberk, Yıldırım, Özlem, Alavanda, Ceren, Polat, Hamza, Demir, Şenol, Çebi, Alper Han, Geçkinli, Bilgen Bilge, Güney, Ahmet İlter, Ata, Pınar, Arman, Ahmet

“…CES (Clinical Exome Sequencing) is a method that we use to diagnose rare diseases with nonspesific clinical features. Besides primary indication for testing…”
Get full text

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations by Vanbelleghem, Eva, Van Damme, Tim, Beyens, Aude, Symoens, Sofie, Claes, Kathleen, De Backer, Julie, Meerschaut, Ilse, Vanommeslaeghe, Floris, Delanghe, Sigurd E, van den Ende, Jenneke, Beyltjens, Tessi, Scimone, Eleanor R, Lindsay, Mark E, Schimmenti, Lisa A, Hinze, Alicia M, Dunn, Emily, Gomez-Ospina, Natalia, Vandernoot, Isabelle, Delguste, Thomas, Coppens, Sandra, Cormier-Daire, Valérie, Tartaglia, Marco, Garavelli, Livia, Shieh, Joseph, Demir, Şenol, Arslan Ateş, Esra, Zenker, Martin, Rohanizadegan, Mersedeh, Rivera-Cruz, Greysha, Douzgou, Sofia, Lin, Angela E, Callewaert, Bert

“…Myhre syndrome (MS, MIM 139210) is a rare multisystemic disorder caused by recurrent pathogenic missense variants in SMAD4. The clinical features have been…”
Get full text

Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations by Arslan Ateş, Esra, Alavanda, Ceren, Demir, Şenol, Keklikkıran, Çağlayan, Attaallah, Wafi, Özdoğan, Osman Cavit, Güney, Ahmet İlter

“…Familial adenomatous polyposis (OMIM #175100) and MUTYH-associated polyposis (OMIM #608456) are rare cancerprone disorders characterized by hundreds of…”
Get full text

PB1957: PROGNOSTIC SIGNIFICANCE OF CHRONIC LYMPHOCYTIC LEUKEMIA WITH IGHV‐U IN THE ERA OF NOVEL AGNETS; REAL‐LİFE DATA by Arikan, Fatma, Ata, Pinar, Demir, Senol, Yildirim, Ozlem, Mehtap, Özgür, Erol, Atakan, Orhan, Bedrettin, Ozkalemkas, Fahir, Menguc, Meral Ulukoylu, Demirtas, Derya, Yanik, Ahmet Mert, Candan, Ozlem, Toptas, Tayfur, Tuglular, Ayse Tulin

Get full text

A Rare Presentation of 17α Hydroxylase/17,20 Lyase Deficiency in a Patient with non-Hodgkin's Lymphoma: A Case Report by Tekkeli, Niran, Kurt, Ilknur, Yalman, Nevin, Timur, Çetin, Demir, Şenol, Sağsak, Elif

“…17α‑hydroxylase/17,20‑lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia that causes decreased cortisol and sex steroid levels and leads…”
Get full text

NKX2-5 Gene Variants Associated with Congenital Heart Defects in Turkish Population by Geçkinli, Bilgen Bilge, Girgin Özgümüş, Gözde, Demir, Şenol, Türkyilmaz, Ayberk, Akalın, Figen

Get full text

Expanding the Clinical Features of Schimke Immuno-Osseous Dysplasia: A New Patient with a Novel Variant and Novel Clinical Findings by Alavanda, Ceren, Demir, Şenol, Güven, Serçin, Eltan, Mehmet, Bilgiç Eltan, Sevgi, Sefer, Asena Pınar, Pul, Serim, Güran, Tülay, Alpay, Harika, Arman, Ahmet, Ata, Pınar, Turan, Serap

“…Schimke Immuno-Osseous Dysplasia (SIOD) (MIM:242900) is an ultra-rare autosomal recessive pan-ethnic pleiotropic disease. Typical findings of this syndrome are…”
Get full text

Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations by Vanbelleghem, Eva, Van Damme, Tim, Beyens, Aude, Symoens, Sofie, Claes, Kathleen, De Backer, Julie, Meerschaut, Ilse, Vanommeslaeghe, Floris, Delanghe, Sigurd E, van den Ende, Jenneke, Beyltjens, Tessi, Scimone, Eleanor R, Lindsay, Mark E, Schimmenti, Lisa A, Hinze, Alicia M, Dunn, Emily, Gomez-Ospina, Natalia, Vandernoot, Isabelle, Delguste, Thomas, Coppens, Sandra, Cormier-Daire, Valérie, Tartaglia, Marco, Garavelli, Livia, Shieh, Joseph, Demir, Şenol, Arslan Ateş, Esra, Zenker, Martin, Rohanizadegan, Mersedeh, Rivera-Cruz, Greysha, Douzgou, Sofia, Lin, Angela E, Callewaert, Bert

Get full text

OP-104 Utilizing lactate dehydrogenase and aspartate transaminase as diagnostic biomarkers in GM2 gangliosidoses by Terzioğlu, Muhammet, Türkdoğan, Dilşad, Genç, Emine, Gümüş, Emel Yılmaz, Öztürk, Gülten, Demir, Şenol, Geçkinli, Bilgen Bilge, Yaya, Enver, Hişmi, Burcu, Kılavuz, Sebile

“…AimGM2 gangliosidoses, comprising Tay-Sachs disease, Sandhoff disease, and the AB variant, stem from mutations in genes encoding β-hexosaminidase subunits or…”
Get full text

II. meşrutiyet dönemi: Türk edebiyatı / hazırlayan, Prof. Dr. İsmail Çetişli, Prof. Dr. Nurullah Çetin, Prof. Dr. Abide Doğan, Doç. Dr. Alim Gür, Şenol Demir, Cengiz Karataş by Çetişli, İsmail, Çetin, Nurullah, Doğan, Abide, Gür, Alim, Demir, Şenol, Karataş, Cengiz

Get more information

Severe adrenal insufficiency in six neonates with normal newborn screening for CAH by Kurt, Ilknur, Eser, Metin, Kahveci, Ahmet, Ucar, Ahmet, Bulus, Derya, Ozcabi, Bahar, Guran, Omer, Karagozlu, Selen, Ersoy, Aysenur, Demir, Senol, Geckinli, Bilge, Guran, Tulay

“…Background Newborn screening (NBS) reduces the risk of mortality in congenital adrenal hyperplasia (CAH), mainly due to the salt‐wasting form of 21‐hydroxylase…”
Get full text

PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature by Demir, Senol, Sevik, Mehmet Orkun, Ersoy, Aysenur, Geckinli, Bilgen Bilge, Sahin, Ozlem, Arslan Ates, Esra

“…PHARC syndrome (MIM:612674) is a rare neurodegenerative disorder characterized by demyelinating polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and…”
Get full text

First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature by Demir, Şenol, Söylemez, Mehmet A, Arman, Ahmet, Ata, Pınar

“…IntroductionFeingold syndrome type 2 (FGLDS2) is an ultra-rare genetic disorder characterized by short stature, microcephaly, digital abnormalities, and…”
Get full text

A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys) by Demir, Şenol, Alavanda, Ceren, Yeşil, Gözde, Aslanger, Ayça Dilruba, Ateş, Esra Arslan

“…IntroductionMyhre syndrome (MS; OMIM #139210) is a rare connective tissue disorder presenting with cardiovascular, respiratory, gastrointestinal, and skeletal…”
Get full text

İlköğretim Okullarında Çalışan Öğretmenlerin Sendikal Bağlılıklarının Demografik Özelliklerine Göre Incelenmesi by Demir, Şenol

“…Sendikaların bugün birçok ülkede eski önem ve güçlerini yitirmeleri; işlevlerini genişletme, üye sayısını ve desteğini arttırma çabalarına girişmelerini…”
Get full text