A novel AXIN2 gene mutation in sagittal synostosis
Yilmaz, Elanur, Mihci, Ercan, Guzel Nur, Banu, Alper, Ozgul M.
Published in American journal of medical genetics. Part A (01.09.2018)
Published in American journal of medical genetics. Part A (01.09.2018)
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Journal Article
Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene
Güzel Nur, Banu, Çelmeli, Gamze, Manguoğlu, Esra, Soyucen, Erdoğan, Bircan, İffet, Mıhçı, Ercan
Published in Journal of clinical research in pediatric endocrinology (01.09.2016)
Published in Journal of clinical research in pediatric endocrinology (01.09.2016)
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Journal Article
Bone mineral density in patients with mucopolysaccharidosis type III
Nur, Banu Guzel, Nur, Hakan, Mihci, Ercan
Published in Journal of bone and mineral metabolism (01.05.2017)
Published in Journal of bone and mineral metabolism (01.05.2017)
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Journal Article
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I
Kilic, Esra, Yigit, Gökhan, Utine, Gülen Eda, Wollnik, Bernd, Mihci, Ercan, Nur, Banu Güzel, Boduroglu, Koray
Published in American journal of medical genetics. Part A (01.04.2015)
Published in American journal of medical genetics. Part A (01.04.2015)
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Journal Article
Epidural capillary hemangioma: A review of the literature
Gencpinar, Pinar, Açıkbaş, Sabri Cem, Nur, Banu Güzel, Karaali, Kamil, Arslan, Murat, Gurer, Elif Inanc, Duman, Ozgur, Haspolat, Senay
Published in Clinical neurology and neurosurgery (01.11.2014)
Published in Clinical neurology and neurosurgery (01.11.2014)
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Journal Article
Celiac disease in patients with Williams-Beuren syndrome
Mıhçı, Ercan, Nur, Banu Güzel, Berker-Karaüzüm, Sibel, Yılmaz, Aygen, Artan, Reha
Published in Turkish journal of pediatrics (01.11.2015)
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Published in Turkish journal of pediatrics (01.11.2015)
Journal Article
Poland Syndrome in Childhood: Evaluation of the Clinical Findings
Güzel Nur, Banu, İbişoğlu, Zeynep, Mıhçı, Ercan
Published in The journal of pediatric research (18.04.2016)
Published in The journal of pediatric research (18.04.2016)
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Journal Article
Associations between the clinical findings of cases having submicroscopic chromosomal imbalances at chromosomal breakpoints of apparently balanced structural rearrangements
Yakut, Sezin, Cetin, Zafer, Altiok Clark, Ozden, Guzel Nur, Banu, Mihci, Ercan, Berker Karauzum, Sibel
Published in Gene reports (01.06.2017)
Published in Gene reports (01.06.2017)
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Journal Article
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome
Nur, Banu Guzel, Bernier, Francois P., Oztekin, Osman, Kardelen, Fırat, Kalay, Salih, Parboosingh, Jillian S., Mihci, Ercan
Published in American journal of medical genetics. Part A (01.09.2013)
Published in American journal of medical genetics. Part A (01.09.2013)
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Journal Article
Bilateral congenital cataracts in an infant with Klinefelter syndrome
Nur, Banu Güzel, Altıok-Clark, Özden, İlhan, Hatice Deniz, Sayar, Ersin, Yücel, İclal, Mıhçı, Ercan
Published in Turkish journal of pediatrics (01.09.2014)
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Published in Turkish journal of pediatrics (01.09.2014)
Journal Article
The association of Klinefelter syndrome and multiple pterygium syndrome: an unusual presentation
Nur, Banu Güzel, Altıok-Clark, Ozden, Toylu, Aslı, Lüleci, Güven, Mıhçı, Ercan
Published in Turkish journal of pediatrics (01.09.2013)
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Published in Turkish journal of pediatrics (01.09.2013)
Journal Article
TCIRG1 and SNX10 gene mutations in the patients with autosomal recessive osteopetrosis
Koçak, Gamze, Güzel, Banu Nur, Mıhçı, Ercan, Küpesiz, Osman Alphan, Yalçın, Koray, Manguoğlu, Ayşe Esra
Published in Gene (20.06.2019)
Published in Gene (20.06.2019)
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Journal Article
Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation
Nur, Banu Guzel, Gencpinar, Pinar, Yuzbasıoglu, Ayse, Emre, Serap Dokmeci, Mihci, Ercan
Published in European journal of medical genetics (01.04.2015)
Published in European journal of medical genetics (01.04.2015)
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Journal Article
Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature
Nur, Banu Güzel, Mıhçı, Ercan, Pepe, Stefano, Biberoğlu, Gürsel, Ezgü, Fatih Süheyl, Ballabio, Andrea, Öztekin, Osman, Dursun, Oğuz
Published in Turkish journal of pediatrics (01.07.2014)
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Published in Turkish journal of pediatrics (01.07.2014)
Journal Article
Evaluation of the Response to the First Two Years of Growth Hormone Treatment in Kabuki Make-Up Syndrome
Celmeli, Gamze, Parlak, Mesut, Nur, Banu Guzel, Mihci, Ercan, Akcurin, Sema, Bircan, Iffet
Published in Journal of clinical research in pediatric endocrinology (01.06.2017)
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Published in Journal of clinical research in pediatric endocrinology (01.06.2017)
Journal Article
Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center
Toru, Havva Serap, Nur, Banu Guzel, Sanhal, Cem Yasar, Mihci, Ercan, Mendilcioğlu, İnanç, Yilmaz, Elanur, Yilmaz, Gulden Tasova, Ozbudak, Irem Hicran, Karaali, Kamil, Alper, Ozgul M., Karaveli, Fatma Şeyda
Published in Fetal and pediatric pathology (03.09.2015)
Published in Fetal and pediatric pathology (03.09.2015)
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Journal Article