المؤلفون: Ozlem Ozkale Yavuz, Ercan Ayaz, Yılmaz Yıldız, Ayca Akgoz Karaosmanoglu, Elif Bulut, H. Serap Kalkanoglu Sivri, Kader K. Oguz

المصدر: Diagnostic and Interventional Radiology, Vol 28, Iss 5, Pp 516-521 (2022)

مصطلحات موضوعية: Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

Relation: http://www.dirjournal.org/archives/archive-detail/article-preview/ncreased-ocular-wall-thickness-and-decreased-globe/53643; https://doaj.org/toc/1305-3825; https://doaj.org/toc/1305-3612

URL الوصول: https://doaj.org/article/6473dfc7b43a4d5a9dfb03fd8fbcaa5f

المؤلفون: Yavuz, Ozlem Ozkale, Ayaz, Ercan, Yıldız, Yılmaz, Karaosmanoglu, Ayca Akgoz, Bulut, Elif, Sivri, H. Serap Kalkanoglu, Oguz, Kader K., Ozkale Yavuz, Ozlem, Akgoz Karaosmanoglu, Ayca, Kalkanoglu Sivri, H Serap

المصدر: Diagnostic & Interventional Radiology; Sep2022, Vol. 28 Issue 5, p516-521, 6p

مصطلحات موضوعية: RETROSPECTIVE studies, MAGNETIC resonance imaging, MUCOPOLYSACCHARIDOSIS

المؤلفون: H. Serap Kalkanoglu-Sivri, Seniz Ozusta, Betül Mazlum, Banu Anlar, Fatih Ünal, Kader Karlı-Oğuz

المصدر: The Turkish journal of pediatrics. 58(3)

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Delayed Diagnosis, Turkey, Phenylketonurias, Autism Spectrum Disorder, 030209 endocrinology & metabolism, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Early childhood, Newborn screening, 030109 nutrition & dietetics, business.industry, Metabolic disorder, Brain, medicine.disease, Magnetic Resonance Imaging, Autism spectrum disorder, Child, Preschool, Pediatrics, Perinatology and Child Health, Autism, business, Autistic symptoms, Blood sampling

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e727abeb945a5e504391fc19a434957c
https://pubmed.ncbi.nlm.nih.gov/28266201

المؤلفون: Ali Dursun, H. Serap Kalkanoglu-Sivri, Özlem Ünal, Burcu Ozturk Hismi, Turgay Coşkun, Ayşegül Tokatlı, Burce Ozgen, Diclehan Orhan

المصدر: Journal of Child Neurology. 28:1509-1512

مصطلحات موضوعية: Genetics, Eukaryotic Translation Initiation Factor 2B, Hypertriglyceridemia, Biology, medicine.disease, humanities, White matter, Vanishing white matter disease, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, eIF2B, medicine, biology.protein, Neurologic deterioration, Neurology (clinical), Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::feb1da4a23765ee7cca7608e6d03aa01
https://doi.org/10.1177/0883073812458711

المؤلفون: Özlem Ünal, Turgay Coşkun, Burcu Ozturk-Hismi, Diclehan Orhan, Ayşegül Tokatlı, Flemming Wibrand, H. Serap Kalkanoglu-Sivri, Elsebet Ostergaard, Ali Dursun

المصدر: Journal of Child Neurology. 28:1505-1508

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Muscle biopsy, genetic structures, medicine.diagnostic_test, Chemistry, Pyruvate carboxylase deficiency, Mitochondrial disease, Economic shortage, medicine.disease, Pyruvate carboxylase, Nemaline rods, Nemaline myopathy, Pediatrics, Perinatology and Child Health, medicine, sense organs, Neurology (clinical), medicine.symptom, Myopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::121702b8eaf8ad890a392ace6fcece75
https://doi.org/10.1177/0883073812458710

المؤلفون: Maria Kibaek, Ernst Christensen, H. Serap Kalkanoglu-Sivri, Morten Duno, T. Thelle, Elsebet Ostergaard, Ali Dursun, L. Birk Moller, Flemming Wibrand

المصدر: Journal of Inherited Metabolic Disease. 32:235-239

مصطلحات موضوعية: Male, Ataxia, Adolescent, Molecular Sequence Data, Mutation, Missense, Biology, medicine.disease_cause, Mitochondrial Proteins, Gene duplication, Genetics, medicine, Humans, Missense mutation, Pyruvate Dehydrogenase (Lipoamide), Amino Acid Sequence, Child, Pyruvate Dehydrogenase Complex Deficiency Disease, Genetics (clinical), Sequence Deletion, Episodic ataxia, Mutation, Base Sequence, Psychomotor retardation, Infant, Newborn, Infant, medicine.disease, Pyruvate dehydrogenase complex, Molecular biology, Pyruvate dehydrogenase deficiency, Phenotype, Child, Preschool, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bee097139bb9f43a9fa5460ba5a40cc
https://doi.org/10.1007/s10545-009-1179-8

المؤلفون: Didem Aliefendioğlu, Marianne Dahl, Ernst Christensen, Ali Dursun, Flemming Wibrand, Elsebet Ostergaard, H. Serap Kalkanoglu-Sivri, Lisbeth Birk Møller, Morten Duno, Helle Birgitte Leth

المصدر: JIMD Reports ISBN: 9783642355172

مصطلحات موضوعية: Genetics, Mutation, Splice site mutation, business.industry, Pyruvate carboxylase deficiency, Point mutation, Nonsense mutation, medicine.disease_cause, medicine.disease, Article, Exon skipping, medicine, Mutation testing, Missense mutation, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf4f716b62cfeeaa1e49fe3b446fcfba
https://doi.org/10.1007/8904_2012_173

المؤلفون: Inal-Ince, Deniz, Arikan, Hulya, Sivri, H. Serap Kalkanoglu, Gultekin, Zuhal, Ozturk, Melda, Savci, Sema

الاتاحة: https://doi.org/10.1002/ppul.20500
https://avesis.hacettepe.edu.tr/publication/details/7f67dd7d-d28f-44dc-b5db-fecf3ba38d50/oai

المؤلفون: Hong-Zhi, Gao, Keiko, Kobayashi, Ayako, Tabata, Hideaki, Tsuge, Mikio, Iijima, Tomotsugu, Yasuda, H Serap, Kalkanoglu, Ali, Dursun, Aysegul, Tokatli, Turgay, Coskun, Friedrich K, Trefz, Daniela, Skladal, Hanna, Mandel, Joerg, Seidel, Soichi, Kodama, Seiko, Shirane, Takafumi, Ichida, Shigeru, Makino, Makoto, Yoshino, Jong-Hon, Kang, Masashi, Mizuguchi, Bruce A, Barshop, Shohei, Fuchinoue, Sara, Seneca, Susan, Zeesman, Ina, Knerr, Margarita, Rodés, Pornswan, Wasant, Ichiro, Yoshida, Linda, De Meirleir, Md, Abdul Jalil, Laila, Begum, Masahisa, Horiuchi, Nobuhiko, Katunuma, Shiro, Nakagawa, Takeyori, Saheki

المساهمون: Department of Embryology and Genetics, Pediatrics

مصطلحات موضوعية: Adult, Male, Citrullinemia, Adolescent, Child, preschool, Genotype, DNA Mutational Analysis, Molecular Sequence Data, Infant, Newborn, Mutation, Missense, Chromosome Mapping, Infant, Argininosuccinate Synthase, Middle Aged, Phenotype, Gene Frequency, Codon, Nonsense, Humans, Female, Amino Acid Sequence, mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::db2902a15cc66e4aff867d91d23cca0e
https://biblio.vub.ac.be/vubir/identification-of-16-novel-mutations-in-the-argininosuccinate-synthetase-gene-and-genotypephenotype-correlation-in-38-classical-citrullinemia-patients(42724c61-41cf-4fb8-8ba0-c3d70cfac97a).html

المؤلفون: Sema Savci, Melda Ozturk, Deniz Inal‐Ince, Zuhal Gultekin, Hulya Arikan, H. Serap Kalkanoglu Sivri

المصدر: Pediatric Pulmonology; Dec2006, Vol. 41 Issue 12, p1250-1253, 4p

المؤلفون: Hong‐Zhi Gao, Keiko Kobayashi, Ayako Tabata, Hideaki Tsuge, Mikio Iijima, Tomotsugu Yasuda, H. Serap Kalkanoglu, Ali Dursun, Aysegul Tokatli, Turgay Coskun, Friedrich K. Trefz, Daniela Skladal, Hanna Mandel, Joerg Seidel, Soichi Kodama, Seiko Shirane, Takafumi Ichida, Shigeru Makino, Makoto Yoshino, Jong‐Hon Kang

المصدر: Human Mutation; Jul2003, Vol. 22 Issue 1, p24-34, 11p

مصطلحات موضوعية: GENETIC disorders, POLYCYSTIC kidney disease, GENETIC mutation, CHEMICAL synthesis, ENZYMES, PHENOTYPES, CHROMOSOMES, UREA

People: SHIMIZU, Nobuyoshi