Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome
Dikoglu, Esra, Alfaiz, Ali, Gorna, Maria, Bertola, Deborah, Chae, Jong Hee, Cho, Tae-Joon, Derbent, Murat, Alanay, Yasemin, Guran, Tulay, Kim, Ok-Hwa, Llerenar Jr, Juan C., Yamamoto, Guillerme, Superti-Furga, Giulio, Reymond, Alexandre, Xenarios, Ioannis, Stevenson, Brian, Campos-Xavier, Belinda, Bonafé, Luisa, Superti-Furga, Andrea, Unger, Sheila
Published in American journal of medical genetics. Part A (01.07.2015)
Published in American journal of medical genetics. Part A (01.07.2015)
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Journal Article
Mutations in HPSE2 Cause Urofacial Syndrome
Daly, Sarah B., Urquhart, Jill E., Hilton, Emma, McKenzie, Edward A., Kammerer, Richard A., Lewis, Malcolm, Kerr, Bronwyn, Stuart, Helen, Donnai, Dian, Long, David A., Burgu, Berk, Aydogdu, Ozgu, Derbent, Murat, Garcia-Minaur, Sixto, Reardon, Willie, Gener, Blanca, Shalev, Stavit, Smith, Rupert, Woolf, Adrian S., Black, Graeme C., Newman, William G.
Published in American journal of human genetics (11.06.2010)
Published in American journal of human genetics (11.06.2010)
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Journal Article
A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?
Ozcan, Deren, Derbent, Murat, Seçkin, Deniz, Bikmaz, Yunus Emre, Ağildere, Muhteşem, De Sandre-Giovannoli, Annachiara, Lévy, Nicolas, Gürakan, Berkan
Published in Annals of dermatology (01.11.2013)
Published in Annals of dermatology (01.11.2013)
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Journal Article
Congenital partial arhinia: a case report
Akkuzu, Guzin, Akkuzu, Babur, Aydin, Erdinc, Derbent, Murat, Ozluoglu, Levent
Published in Journal of medical case reports (20.09.2007)
Published in Journal of medical case reports (20.09.2007)
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Journal Article
Greig syndrome based on a de novo translocation
Yilmaz, Zerrin, Gokdemir, Mahmut, Derbent, Murat, Sahin, Feride I.
Published in Pediatrics international (01.04.2008)
Published in Pediatrics international (01.04.2008)
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Journal Article
Mutations in HPSE2 Cause Urofacial Syndrome
Daly, Sarah B., Urquhart, Jill E., Hilton, Emma, McKenzie, Edward A., Kammerer, Richard A., Lewis, Malcolm, Kerr, Bronwyn, Stuart, Helen, Donnai, Dian, Long, David A., Burgu, Berk, Aydogdu, Ozgu, Derbent, Murat, Garcia-Minaur, Sixto, Reardon, Willie, Gener, Blanca, Shalev, Stavit, Smith, Rupert, Woolf, Adrian S., Black, Graeme C., Newman, William G.
Published in American journal of human genetics (13.08.2010)
Published in American journal of human genetics (13.08.2010)
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Journal Article
A patient with Keipert syndrome and isolated fibrous dysplasia of the sphenoid sinus
Derbent, Murat, Bıkmaz, Yunus Emre, Agildere, Muhtesem
Published in American journal of medical genetics. Part A (01.06.2011)
Published in American journal of medical genetics. Part A (01.06.2011)
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Journal Article
PHACES syndrome with small, late-onset hemangiomas
TORER, Birgin, GULCAN, Hande, KILICDAG, Hasan, DERBENT, Murat
Published in European journal of pediatrics (01.12.2007)
Published in European journal of pediatrics (01.12.2007)
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Journal Article
Outcome of out-of-hospital cardiopulmonary arrest in children: A multicenter cohort study
Kurt, Funda, Kendirli, Tanıl, Gündüz, Ramiz Coskun, Kesici, Selman, Akça, Halise, Şahin, Şanlıay, Kalkan, Gökhan, Derbent, Murat, Tuygun, Nilden, Ödek, Çağlar, Gültekingil, Ayşe, Oğuz, Sinan, Polat, Emine, Derinöz, Okşan, Tekin, Deniz, Tekşam, Özlem, Bayrakcı, Benan, Suskan, Emine
Published in Turkish journal of pediatrics (2018)
Published in Turkish journal of pediatrics (2018)
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Journal Article
Propranolol for infantile hemangiomas: a preliminary report on efficacy and safety in very low birth weight infants
Erbay, Ayşe, Sarialioglu, Faik, Malbora, Bariş, Yildirim, Selman Vefa, Varan, Birgül, Tarcan, Aylin, Gülcan, Hande, Demir, Senay, Derbent, Murat, Uslu, Nihal, Abbasoğlu, Aslihan
Published in Turkish journal of pediatrics (01.09.2010)
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Published in Turkish journal of pediatrics (01.09.2010)
Journal Article
Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations
Derbent, Murat, Oncel, Yekta, Tokel, Kürşad, Varan, Birgül, Haberal, Ayşegül, Yazıcı, A. Canan, Legius, Eric, Ozbek, Namık
Published in American journal of medical genetics. Part A (01.11.2010)
Published in American journal of medical genetics. Part A (01.11.2010)
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Journal Article
Oxidant/antioxidant status and vitamin A levels in children infected with varicella
Avci, Zekai, Avci, Aslihan, Alioglu, Bulent, Malbora, Baris, Bayraktar, Nilüfer, Derbent, Murat, Ozbek, Namik
Published in Acta Paediatrica (01.07.2008)
Published in Acta Paediatrica (01.07.2008)
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Journal Article
Urofacial (Ochoa) Syndrome: Can a Facial Gestalt Represent Severe Voiding Dysfunction?
Derbent, Murat, Melek, Engin, Arman, Ayça, Uçkan, Sina, Bask n, Esra
Published in Renal failure (2009)
Published in Renal failure (2009)
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Journal Article
Variable phenotype and associations in chromosome 22q11.2 microdeletion
Derbent, Murat, Bikmaz, Yunus Emre, Yilmaz, Zerrin, Tokel, Kursad
Published in American journal of medical genetics. Part A (15.03.2006)
Published in American journal of medical genetics. Part A (15.03.2006)
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Journal Article