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Focal Segmental Glomerulosclerosis Associated with Mitochondrial Cytopathy: Report of Two Cases with Special Emphasis on Podocytes.
- Published in:
- Pediatric & Developmental Pathology, 2005, v. 8, n. 6, p. 710, doi. 10.1007/s10024-005-0058-z
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- Publication type:
- Article
Clinical and Histopathological Study of Merosin-deficient and Merosin-positive Congenital Muscular Dystrophy.
- Published in:
- Pediatric & Developmental Pathology, 2000, v. 3, n. 2, p. 168, doi. 10.1007/s100240050021
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- Publication type:
- Article
Limb Girdle Muscular Dystrophy Type 2a: Case Report.
- Published in:
- 2022
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- Publication type:
- Case Study
Bilateral Femur Fraktürü ve Hipotoni ile Prezente Olan Nemalin Miyopatisi.
- Published in:
- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2019, v. 13, n. 4, p. 302, doi. 10.12956/tjpd.2018.399
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- Publication type:
- Article
Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-97294-4
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- Publication type:
- Article
Calpain-3 mutations in Turkey.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Colchicine Protects against Hyperoxic Lung Injury in Neonatal Rats.
- Published in:
- Neonatology (16617800), 2012, v. 102, n. 4, p. 265, doi. 10.1159/000341424
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- Publication type:
- Article
Subakut sklerozan panensefalitte demiyelinizasyon mekanizması: deneysel bir çalışma.
- Published in:
- Cocuk Sagligi ve Hastaliklari Dergisi, 2013, v. 56, n. 3, p. 122
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- Publication type:
- Article
Hacettepe Üniversitesi Hastanesi 2001-2006 dönemi perinatal mortalite analizi.
- Published in:
- Cocuk Sagligi ve Hastaliklari Dergisi, 2010, v. 53, n. 3, p. 175
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- Publication type:
- Article
Dubin-Johnson ve Rotor sendromları: Üç vaka takdimi.
- Published in:
- Cocuk Sagligi ve Hastaliklari Dergisi, 2010, v. 53, n. 1, p. 33
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- Publication type:
- Article
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
- Published in:
- 2015
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- Publication type:
- journal article
Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 7, p. e45, doi. 10.1093/brain/awae099
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- Publication type:
- Article
Prenatal period to adolescence: the variable presentations of congenital cystic adenomatoid malformation.
- Published in:
- Pediatrics International, 2006, v. 48, n. 6, p. 626, doi. 10.1111/j.1442-200X.2006.02264.x
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- Publication type:
- Article
A Case of Acute Bilateral Ptosis: SURF-1 Mutation.
- Published in:
- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2018, v. 24, n. 1, p. 83, doi. 10.4274/tnd.01700
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- Publication type:
- Article
Clinical and genetic characterization of PYROXD1‐related myopathy patients from Turkey.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1678, doi. 10.1002/ajmg.a.62148
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- Publication type:
- Article
Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.
- Published in:
- Turkish Journal of Pediatrics, 2008, v. 50, n. 3, p. 287
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- Publication type:
- Article
Childhood diffuse panbronchiolitis: A case report.
- Published in:
- Pediatric Pulmonology, 2005, v. 40, n. 4, p. 354, doi. 10.1002/ppul.20280
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- Publication type:
- Article
Congenital absence of the portal vein associated with congenital hepatic fibrosis.
- Published in:
- 2007
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- Publication type:
- journal article
Milk of calcium: A rare manifestation of juvenile dermatomyositis.
- Published in:
- Archives of Rheumatology, 2021, v. 36, n. 2, p. 302, doi. 10.46497/ArchRheumatol.2021.8197
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- Publication type:
- Article
Alterations in insulin‐like growth factor system in spinal muscular atrophy.
- Published in:
- Muscle & Nerve, 2022, v. 66, n. 5, p. 631, doi. 10.1002/mus.27715
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- Publication type:
- Article
Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14-year follow-up.
- Published in:
- Muscle & Nerve, 2012, v. 45, n. 6, p. 796, doi. 10.1002/mus.23272
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- Publication type:
- Article
Early prednisone treatment in Duchenne muscular dystrophy.
- Published in:
- Muscle & Nerve, 2003, v. 27, n. 2, p. 222, doi. 10.1002/mus.10319
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- Publication type:
- Article
Histological response to injected gluteraldehyde cross-linked bovine collagen based implant in a rat model.
- Published in:
- BMC Urology, 2006, v. 6, p. 3, doi. 10.1186/1471-2490-6-3
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- Publication type:
- Article
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1055, doi. 10.1038/ejhg.2008.60
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- Publication type:
- Article
A Reevaluation of the Structures Accepted to Represent the Postnatal Gubernaculum.
- Published in:
- Urologia Internationalis, 2002, v. 69, n. 2, p. 116, doi. 10.1159/000065559
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- Publication type:
- Article
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. e228, doi. 10.1093/brain/aws197
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- Publication type:
- Article
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 1, p. 183, doi. 10.1093/brain/awq320
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- Publication type:
- Article
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2037, doi. 10.1093/brain/awm054
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- Publication type:
- Article
Significance of intestinal alkaline phosphatase in predicting histological activity of pediatric inflammatory bowel disease.
- Published in:
- Turkish Journal of Pediatrics, 2022, v. 64, n. 6, p. 1068, doi. 10.24953/turkjped.2021.5413
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- Publication type:
- Article
Circulating Epstein-Barr virus DNA and cell-free DNA in pediatric lymphomas.
- Published in:
- Turkish Journal of Pediatrics, 2020, v. 62, n. 4, p. 541, doi. 10.24953/turkjped.2020.04.003
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- Publication type:
- Article
Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center.
- Published in:
- Turkish Journal of Pediatrics, 2018, v. 60, n. 5, p. 471, doi. 10.24953/turkjped.2018.05.001
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- Publication type:
- Article
Serum alpha-fetoprotein levels in neonatal cholestasis.
- Published in:
- Turkish Journal of Pediatrics, 2013, v. 55, n. 2, p. 152
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- Publication type:
- Article
Rhabdomyosarcoma of the common bile duct: an unusual cause of obstructive jaundice in a child.
- Published in:
- Turkish Journal of Pediatrics, 2012, v. 54, n. 6, p. 654
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- Publication type:
- Article
Double heterotopic pancreas and Meckel's diverticulum in a child: do they have a common origin?
- Published in:
- Turkish Journal of Pediatrics, 2010, v. 52, n. 3, p. 336
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- Publication type:
- Article
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 883, doi. 10.3233/JND-240022
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- Publication type:
- Article
A Child with Refractory and Relapsing Anti-3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase Myopathy: Case-Based Review.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 2, p. 279, doi. 10.3233/JND-221557
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- Publication type:
- Article
Pyogenic Granuloma with Multiple Dissemination in a Burn Lesion.
- Published in:
- Pediatric Dermatology, 1997, v. 14, n. 3, p. 213, doi. 10.1111/j.1525-1470.1997.tb00240.x
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- Publication type:
- Article
A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity.
- Published in:
- Brain Pathology, 2009, v. 19, n. 4, p. 596, doi. 10.1111/j.1750-3639.2008.00198.x
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- Publication type:
- Article
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
- Published in:
- Annals of Neurology, 2008, v. 64, n. 5, p. 573, doi. 10.1002/ana.21482
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- Publication type:
- Article
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 3, p. 400
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- Publication type:
- Article
Prenatal diagnosis and clinicopathologic examination of a case with diastematomyelia.
- Published in:
- Congenital Anomalies, 2013, v. 53, n. 4, p. 163, doi. 10.1111/cga.12008
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- Publication type:
- Article
Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1099, doi. 10.1007/s10545-015-9856-2
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- Publication type:
- Article
Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-86974-w
- By:
- Publication type:
- Article
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 4, p. 980, doi. 10.1093/hmg/ddt494
- By:
- Publication type:
- Article
Effect of Hyperbaric Oxygen on Hypoxic-ischemic Damage in Cold Preserved Tissues.
- Published in:
- Forbes Journal of Medicine, 2022, v. 3, n. 2, p. 160, doi. 10.4274/forbes.galenos.2022.75046
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- Publication type:
- Article
Solid tumors in Turkish children: a multicenter study.
- Published in:
- World Journal of Pediatrics, 2013, v. 9, n. 1, p. 25, doi. 10.1007/s12519-011-0323-3
- By:
- Publication type:
- Article
Prenatal diagnosis of muscle-eye-brain disease.
- Published in:
- Prenatal Diagnosis, 2007, v. 27, n. 1, p. 51, doi. 10.1002/pd.1622
- By:
- Publication type:
- Article
Inflammatory milieu of muscle biopsies in juvenile dermatomyositis.
- Published in:
- Rheumatology International, 2021, v. 41, n. 1, p. 77, doi. 10.1007/s00296-020-04735-w
- By:
- Publication type:
- Article
Histological response to injected dextranomer-based implant in a rat model.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Worldwide distribution and broader clinical spectrum of muscle–eye–brain disease.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 5, p. 527, doi. 10.1093/hmg/ddg043
- By:
- Publication type:
- Article