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Eda Utine

Showing results (91-100 of 155) with videos related to

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American Journal of Medical Genetics. Part A|September 17, 2013
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndromeEsra Dikoglu, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, et al.
Pediatric Gastroenterology, Hepatology & Nutrition|December 1, 2022
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature ReviewMerve Güvenoğlu, Pelin Özlem Şimşek-Kiper, Can Koşukcu, et al.
American Journal of Medical Genetics. Part A|March 22, 2021
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal featuresErdem Kındış, Pelin Özlem Simsek-Kiper, Can Koşukcu, et al.
European Journal of Medical Genetics|January 31, 2023
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patientsAkçahan Akalın, Cansu Özşin, Nagihan Koç, et al.
Molecular Syndromology|June 6, 2024
Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated FamiliesAbdulkerim Kolkiran, Pelin Özlem Şimşek-Kiper, Göknur Topaloğlu Yasan, et al.
American Journal of Medical Genetics. Part A|August 8, 2014
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observationPelin Ozlem Simsek-Kiper, Esra Dikoglu, Belinda Campos-Xavier, et al.
Respiration; International Review of Thoracic Diseases|August 31, 2007
Pleural fluid PCR method for detection of Staphylococcus aureus, Streptococcus pneumoniae and Haemophilus influenzae in pediatric parapneumonic effusionsG Eda Utine, Ahmet Pinar, Uğur Ozçelik, et al.
Molecular Syndromology|May 20, 2021
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral SpectrumGizem Ürel-Demir, Büşra Aydın, Beren Karaosmanoğlu, et al.
Parasitology International|March 3, 2010
TAP1 and TAP2 gene polymorphisms in childhood cystic echinococcosisNural Kiper, Filiz Gerçeker, Eda Utine, et al.
European Journal of Medical Genetics|September 16, 2018
Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrumÖzlem Akgün Doğan, Gizem Ürel Demir, Can Kosukcu, et al.
Pageof 16

Showing results (91-100 of 155) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics. Part A|September 17, 2013
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndromeEsra Dikoglu, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, et al.
Pediatric Gastroenterology, Hepatology & Nutrition|December 1, 2022
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature ReviewMerve Güvenoğlu, Pelin Özlem Şimşek-Kiper, Can Koşukcu, et al.
American Journal of Medical Genetics. Part A|March 22, 2021
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal featuresErdem Kındış, Pelin Özlem Simsek-Kiper, Can Koşukcu, et al.
European Journal of Medical Genetics|January 31, 2023
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patientsAkçahan Akalın, Cansu Özşin, Nagihan Koç, et al.
Molecular Syndromology|June 6, 2024
Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated FamiliesAbdulkerim Kolkiran, Pelin Özlem Şimşek-Kiper, Göknur Topaloğlu Yasan, et al.
American Journal of Medical Genetics. Part A|August 8, 2014
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observationPelin Ozlem Simsek-Kiper, Esra Dikoglu, Belinda Campos-Xavier, et al.
Respiration; International Review of Thoracic Diseases|August 31, 2007
Pleural fluid PCR method for detection of Staphylococcus aureus, Streptococcus pneumoniae and Haemophilus influenzae in pediatric parapneumonic effusionsG Eda Utine, Ahmet Pinar, Uğur Ozçelik, et al.
Molecular Syndromology|May 20, 2021
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral SpectrumGizem Ürel-Demir, Büşra Aydın, Beren Karaosmanoğlu, et al.
Parasitology International|March 3, 2010
TAP1 and TAP2 gene polymorphisms in childhood cystic echinococcosisNural Kiper, Filiz Gerçeker, Eda Utine, et al.
European Journal of Medical Genetics|September 16, 2018
Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrumÖzlem Akgün Doğan, Gizem Ürel Demir, Can Kosukcu, et al.
Pageof 16