Beril Talim

Beril Talim

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Beril Talim

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Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.

Pediatr Neurol 2019 Oct 28;99:69-75. Epub 2019 Jun 28.

Division of Pediatric Metabolism, Hacettepe University Children's Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.06.015DOI Listing
October 2019

[Nemaline rod myopathy treated with L-tyrosine to relieve symptoms in a neonate].

Arch Argent Pediatr 2019 Aug;117(4):e382-e386

Departamento de Neonatología, Hospital Universitario Maternal Zekai Tahir Burak, Ankara, Turquía. b. Departamento de Pediatría, Unidad de Anatomía Patológica, Facultad de Medicina de la Hacettepe Üniversitesi, Ankara, Turquía.

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http://dx.doi.org/10.5546/aap.2019.e382DOI Listing
August 2019

Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center.

Turk J Pediatr 2018 ;60(5):471-477

Division of Perinatology, Obstetrics and Gynecology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.24953/turkjped.2018.05.001DOI Listing
June 2019

Do not Miss Rare and Treatable Cause of Early-Onset Hemolytic Uremic Syndrome: Cobalamin C Deficiency.

Nephron 2019 28;142(3):258-263. Epub 2019 May 28.

Division of Pediatric Metabolic Diseases, Department of Pediatrics, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1159/000497822DOI Listing
May 2019

Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy.

Fetal Pediatr Pathol 2018 Dec 25;37(6):418-423. Epub 2018 Oct 25.

a Division of Perinatology , Department of Obstetrics and Gynecology , Ankara , Turkey.

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http://dx.doi.org/10.1080/15513815.2018.1520944DOI Listing
December 2018

LARGE expression in different types of muscular dystrophies other than dystroglycanopathy.

BMC Neurol 2018 Dec 15;18(1):207. Epub 2018 Dec 15.

Department of Medical Biology, Hacettepe University Faculty of Medicine, 06100 Sihhiye, Ankara, Turkey.

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https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-
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http://dx.doi.org/10.1186/s12883-018-1207-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295086PMC
December 2018

Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study.

Neuromuscul Disord 2017 Oct 1;27(10):923-930. Epub 2017 Jun 1.

Department of Internal Medicine, Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey.

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http://dx.doi.org/10.1016/j.nmd.2017.05.015DOI Listing
October 2017

Surgical Treatment of Childhood Inflammatory Myofibroblastic Tumors.

Eur J Pediatr Surg 2017 Aug 3;27(4):319-323. Epub 2016 Oct 3.

Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1055/s-0036-1593380DOI Listing
August 2017

Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation.

Neuromuscul Disord 2017 Mar 23;27(3):239-242. Epub 2016 Dec 23.

Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.12.008DOI Listing
March 2017

Giant Omental Cyst (Lymphangioma) Mimicking Ascites and Tuberculosis.

Iran J Radiol 2016 Jul 24;13(3):e31943. Epub 2016 May 24.

Department of Pediatric Radiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.5812/iranjradiol.31943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5107244PMC
July 2016

Segmental ileal dilatation with supernumerary intestinal muscle coat in a neonate.

Surg Case Rep 2015 Dec 17;1(1):16. Epub 2015 Feb 17.

Department of Pediatric Surgery, Faculty of Medicine, Hacettepe University, 06100, Ankara, Turkey.

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http://dx.doi.org/10.1186/s40792-015-0022-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747919PMC
December 2015

Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.

J Inherit Metab Dis 2015 Nov 12;38(6):1099-108. Epub 2015 Jun 12.

Department of Pediatric Neurology, Hacettepe University Children's Hospital, 06100, Ankara, Turkey.

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http://dx.doi.org/10.1007/s10545-015-9856-2DOI Listing
November 2015

Unusual splenic hemangioma of a pediatric patient: hypointense on T2-weighted image.

Clin Imaging 2014 Jul-Aug;38(4):553-555. Epub 2014 Feb 15.

Division of Pediatric Radiology, Department of Radiology, Hacettepe University Medical School, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.clinimag.2014.02.007DOI Listing
December 2014

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

Am J Hum Genet 2014 Aug 31;95(2):218-26. Epub 2014 Jul 31.

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129406PMC
August 2014

Rhabdomyosarcoma of the common bile duct: an unusual cause of obstructive jaundice in a child.

Turk J Pediatr 2012 Nov-Dec;54(6):654-7

Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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July 2014

Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies.

Neuromuscul Disord 2014 Jul 2;24(7):624-33. Epub 2014 May 2.

Department of Medical Biology, Hacettepe University, Faculty of Medicine, Sihhiye, 06100 Ankara, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.04.007DOI Listing
July 2014

Vesiculopustular eruption in neonatal transient myeloproliferative disorder.

Indian J Pediatr 2014 Apr 16;81(4):391-3. Epub 2013 Aug 16.

Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1007/s12098-013-1192-7DOI Listing
April 2014

Serum alpha-fetoprotein levels in neonatal cholestasis.

Turk J Pediatr 2013 Mar-Apr;55(2):152-7

Division of Pediatric Gastroenterology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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December 2013

Prenatal diagnosis and clinicopathologic examination of a case with diastematomyelia.

Congenit Anom (Kyoto) 2013 Dec;53(4):163-5

Department of Obstetrics and Gynecology, School of Medicine, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1111/cga.12008DOI Listing
December 2013

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

J Med Genet 2013 Jul 18;50(7):437-43. Epub 2013 May 18.

Department of Medical Biology, Hacettepe University Faculty of Medicine, Sihhiye Ankara 06100, Turkey.

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http://dx.doi.org/10.1136/jmedgenet-2012-101487DOI Listing
July 2013

190 th ENMC international workshop: Spinal muscular atrophy with respiratory distress/distal spinal muscular atrophy type 1: 11-13 May 2012, Naarden, The Netherlands.

Neuromuscul Disord 2013 Jul 29;23(7):602-9. Epub 2013 May 29.

Department of Neurology & Neurosurgery, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.nmd.2013.04.004DOI Listing
July 2013

Colchicine protects against hyperoxic lung injury in neonatal rats.

Neonatology 2012 22;102(4):265-9. Epub 2012 Aug 22.

Division of Neonatology, Department of Pediatrics, Turgut Özal Medical Center, Inönü University School of Medicine, Malatya, Turkey.

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http://dx.doi.org/10.1159/000341424DOI Listing
June 2013

Apoptosis in subacute sclerosing panencephalitis: possibility for treatment.

Med Hypotheses 2013 Apr 8;80(4):507-8. Epub 2013 Feb 8.

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http://dx.doi.org/10.1016/j.mehy.2012.12.028DOI Listing
April 2013

Solid tumors in Turkish children: a multicenter study.

World J Pediatr 2013 Feb 21;9(1):25-31. Epub 2011 Nov 21.

Pathology Department, Ankara Child Diseases Hematology Oncology Research and Training Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1007/s12519-011-0323-3DOI Listing
February 2013

Coexistence of two distinct intragenic dystrophin deletions in two maternal cousins with Duchenne Muscular Dystrophy.

Neuromuscul Disord 2013 Jan 15;23(1):15-8. Epub 2012 Sep 15.

Department of Medical Biology, Hacettepe University Faculty of Medicine, Sihhiye, 06100 Ankara, Turkey.

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http://linkinghub.elsevier.com/retrieve/pii/S096089661200552
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http://dx.doi.org/10.1016/j.nmd.2012.07.001DOI Listing
January 2013

Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up.

Muscle Nerve 2012 Jun;45(6):796-802

Laboratory of Musculoskeletal Cell Biology, Rizzoli Orthopedic Institute, Bologna, Italy.

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http://dx.doi.org/10.1002/mus.23272DOI Listing
June 2012

Lissencephaly type II.

Handb Clin Neurol 2008 ;87:219-34

Department of Child Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1016/S0072-9752(07)87014-XDOI Listing
December 2010

Double heterotopic pancreas and Meckel's diverticulum in a child: do they have a common origin?

Turk J Pediatr 2010 May-Jun;52(3):336-8

Unit of Pediatric Gastroenterology, Hepatology and Nutrition, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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September 2010

A rare type of renal cell carcinoma in a girl: hybrid renal cell carcinoma.

Pediatr Hematol Oncol 2010 Apr;27(3):228-32

Hacettepe University, Faculty of Medicine, Department of Pediatric Oncology, Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.3109/08880010903447383DOI Listing
April 2010

Sarcoid-like granulomas in common variable immunodeficiency.

Rheumatol Int 2009 Nov;30(1):109-12

Department of Pediatrics, Division of Immunology and Allergy, Selcuk University Meram Medical Faculty, Konya, Turkey.

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http://dx.doi.org/10.1007/s00296-009-0897-4DOI Listing
November 2009

An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement.

Neuromuscul Disord 2009 Oct 12;19(10):692-5. Epub 2009 Aug 12.

Department of Pediatric Neurology, Gazi University, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.nmd.2009.07.006DOI Listing
October 2009

Does defective apoptosis play a role in cystic fibrosis lung disease?

Arch Med Res 2009 Oct 25;40(7):561-4. Epub 2009 Sep 25.

Department of Pediatrics, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.arcmed.2009.07.005DOI Listing
October 2009

Ulcerative colitis associated with Takayasu's arteritis in a child.

Acta Paediatr 2009 Aug 7;98(8):1368-71. Epub 2009 May 7.

Department of Pediatrics, Section of Gastroenterology, Hepatology and Nutrition, Hacettepe University, Medical Faculty, Ankara 0610, Turkey.

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http://dx.doi.org/10.1111/j.1651-2227.2009.01330.xDOI Listing
August 2009

Merkel cell carcinoma in a child.

J Pediatr Hematol Oncol 2009 May;31(5):359-61

Department of Pediatric Oncology, Meram Faculty of Medicine, Seluck Unversity, Konya, Turkey.

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https://insights.ovid.com/crossref?an=00043426-200905000-000
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http://dx.doi.org/10.1097/MPH.0b013e3181984f6bDOI Listing
May 2009

Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.

Turk J Pediatr 2008 May-Jun;50(3):287-90

Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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October 2008

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.

Eur J Hum Genet 2008 Sep 2;16(9):1055-61. Epub 2008 Apr 2.

Department of Medical Genetics, The Folkhälsan Institute of Genetics, University of Helsinki, Biomedicum Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/ejhg.2008.60DOI Listing
September 2008

Multiple jejunoileal perforations because of intestinal involvement of miliary tuberculosis in an infant.

J Pediatr Surg 2008 Sep;43(9):e17-21

Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, Sihhiye Ankara 06100, Turkey.

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http://dx.doi.org/10.1016/j.jpedsurg.2008.03.063DOI Listing
September 2008

Congenital absence of the portal vein associated with congenital hepatic fibrosis.

Pediatr Radiol 2007 Sep 14;37(9):920-4. Epub 2007 Jul 14.

Radiology Department, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, 06100, Turkey.

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http://dx.doi.org/10.1007/s00247-007-0533-yDOI Listing
September 2007

Extranodal type T/NK-cell lymphoma with an atypical clinical presentation.

Pediatr Hematol Oncol 2007 Jun;24(4):291-9

Department of Pediatric Oncology, Hacettepe University, Institute of Oncology, Ankara, Turkey.

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http://dx.doi.org/10.1080/08880010701441112DOI Listing
June 2007

Histological response to injected dextranomer-based implant in a rat model.

Pediatr Surg Int 2007 Feb 17;23(2):183-7. Epub 2006 Oct 17.

Pediatric Surgery, Hacettepe University Medical Faculty, Ankara, Turkey.

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http://dx.doi.org/10.1007/s00383-006-1818-1DOI Listing
February 2007

Prenatal diagnosis of muscle-eye-brain disease.

Prenat Diagn 2007 Jan;27(1):51-4

Hacettepe University, Faculty of Medicine, Department of Medical Biology, Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.1002/pd.1622DOI Listing
January 2007

Cardiac and pulmonary investigations in Bethlem myopathy.

Arch Neurol 2006 Nov;63(11):1617-21

Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1001/archneur.63.11.1617DOI Listing
November 2006

Calpain-3 mutations in Turkey.

Eur J Pediatr 2006 May 13;165(5):293-8. Epub 2006 Jan 13.

Faculty of Medicine, Department of Medical Biology, Hacettepe University, 6th floor, (06100), Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.1007/s00431-005-0046-3DOI Listing
May 2006

Aneurysmal bone cyst of the rib in a child: report of a case.

Surg Today 2005 ;35(10):886-9

Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara, 06100, Turkey.

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http://dx.doi.org/10.1007/s00595-005-3020-9DOI Listing
April 2006

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.

Arch Neurol 2006 Feb;63(2):251-7

Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, Hammersmith Hospital Campus, London, United Kingdom.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archneur.63.2.251DOI Listing
February 2006

Histological response to injected gluteraldehyde cross-linked bovine collagen based implant in a rat model.

BMC Urol 2006 Feb 18;6. Epub 2006 Feb 18.

Department of Pediatric Surgery, Hacettepe University Medical Faculty, Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.1186/1471-2490-6-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1395323PMC
February 2006

Focal segmental glomerulosclerosis associated with mitochondrial cytopathy: report of two cases with special emphasis on podocytes.

Pediatr Dev Pathol 2005 Nov-Dec;8(6):710-7. Epub 2005 Nov 18.

Department of Pediatrics, Pathology Unit, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey.

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http://dx.doi.org/10.1007/s10024-005-0058-zDOI Listing
January 2006

Childhood diffuse panbronchiolitis: a case report.

Pediatr Pulmonol 2005 Oct;40(4):354-7

Pediatric Chest Diseases Unit, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1002/ppul.20280DOI Listing
October 2005

Arrhythmogenic right ventricular dysplasia presenting with severe right heart failure leading to abdominal ascites in a child.

Acta Cardiol 2005 Oct;60(5):546-50

Hacettepe University Faculty of Medicine, Department of Pediatrics, Section of Pediatric Cardiology, Ankara, Turkey.

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http://dx.doi.org/10.2143/AC.60.5.2004978DOI Listing
October 2005

Noncardiac malformations in congenital heart disease: a retrospective analysis of 305 pediatric autopsies.

Turk J Pediatr 2005 Apr-Jun;47(2):159-66

Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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September 2005

Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observations.

Am J Med Genet A 2005 Jul;136(3):265-8

Clinical Genetics Section, Department of Pediatrics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.

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http://doi.wiley.com/10.1002/ajmg.a.30808
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http://dx.doi.org/10.1002/ajmg.a.30808DOI Listing
July 2005

Severe lethal spinal muscular atrophy variant with arthrogryposis.

Pediatr Neurol 2005 Mar;32(3):201-4

Neonatal Intensive Care Unit, Diskapi, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.pediatrneurol.2004.10.003DOI Listing
March 2005

Histologic characteristics of the human prepuce pertaining to its clinical behavior as a dual graft.

Ann Plast Surg 2005 Feb;54(2):191-5

Department of Plastic and Reconstructive Surgery, Ankara Training and Research Hospital, Hacettepe University School of Medicine, Ankara, Turkey.

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http://pdfs.journals.lww.com/annalsplasticsurgery/2005/02000
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http://dx.doi.org/10.1097/01.sap.0000141939.42990.70DOI Listing
February 2005

Prenatal diagnosis of Cantrell's pentalogy: a case report.

Turk J Pediatr 2003 Oct-Dec;45(4):357-8

Department of Obstetrics and Gynecology, Hacettepe University, Faculty of Medicine, Ankara, Turkey.

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February 2004

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

Hum Mol Genet 2003 Mar;12(5):527-34

Division of Functional Genomics, Department of Post-Genomics and Diseases, Osaka University Graduate School of Medicine, 2-2-B9 Yamadaoka, Suita, Osaka 565-0871, Japan.

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http://dx.doi.org/10.1093/hmg/ddg043DOI Listing
March 2003

Early prednisone treatment in Duchenne muscular dystrophy.

Muscle Nerve 2003 Feb;27(2):222-7

Neuromuscular Unit, Istituto Ortopedico Rizzoli, Via Pupilli 1, 40136 Bologna, Italy.

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http://dx.doi.org/10.1002/mus.10319DOI Listing
February 2003

A reevaluation of the structures accepted to represent the postnatal gubernaculum.

Urol Int 2002 ;69(2):116-9

Department of Pediatric Surgery, Hacettepe University, Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1159/000065559DOI Listing
October 2002

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).

Neuromuscul Disord 2002 Oct;12(7-8):631-8

Department of Paediatrics, Dubowitz Neuromuscular Centre, Hammersmith Hospital, Imperial College, Du Cane Road, W12 OHN, London, UK.

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http://dx.doi.org/10.1016/s0960-8966(02)00023-8DOI Listing
October 2002

An unusual case of esophageal and laryngotracheal atresia.

Turk J Pediatr 2002 Jan-Mar;44(1):80-2

Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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March 2002

Deficiency of alpha-dystroglycan in muscle-eye-brain disease.

Biochem Biophys Res Commun 2002 Mar;291(5):1283-6

Division of Functional Genomics, Osaka University Graduate School of Medicine, 2-2 B9, Yamadaoka, Suita, Osaka 565-0871, Japan.

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http://dx.doi.org/10.1006/bbrc.2002.6608DOI Listing
March 2002