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The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea

Kidney international, 2008-10, Vol.74 (8), p.1085-1093

2008

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New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies

Pediatric research, 2012-10, Vol.72 (4), p.432-437

2012

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Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

American journal of human genetics, 2011-05, Vol.88 (5), p.635-642

2011

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Mutant CHUK and Severe Fetal Encasement Malformation

The New England journal of medicine, 2010-10, Vol.363 (17), p.1631-1637

2010

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Expression profiles of matrix metalloproteinases and their inhibitors in colonic inflammation related to pediatric inflammatory bowel disease

Scandinavian journal of gastroenterology, 2010-08, Vol.45 (7-8), p.862-871

2010

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Peritubular capillaries are rarefied in congenital nephrotic syndrome of the Finnish type

Kidney international, 2009-05, Vol.75 (10), p.1099-1108

2009

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High frequency of tumours in Mulibrey nanism

The Journal of pathology, 2009-06, Vol.218 (2), p.163-171

2009

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Testicular Failure and Male Infertility in the Monogenic Mulibrey Nanism Disorder

The journal of clinical endocrinology and metabolism, 2011-11, Vol.96 (11), p.3399-3407

2011

Volltextzugriff (PDF)

Parvovirus B19 Infection in Fetal Deaths

Clinical infectious diseases, 2008-12, Vol.47 (12), p.1519-1525

2008

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Three-generation Familial Visceral Myopathy With α-actin–positive Inclusion Bodies in Intestinal Smooth Muscle

Journal of clinical gastroenterology, 2009-05, Vol.43 (5), p.437-443

2009

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Kidneys with heavy proteinuria show fibrosis, inflammation, and oxidative stress, but no tubular phenotypic change

Kidney international, 2005-07, Vol.68 (1), p.121-132

2005

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Placental growth factor and vascular endothelial growth factor receptor-2 in human lung development

Pediatrics (Evanston), 2008-08, Vol.122 (2), p.340

2008

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Increased risk of human parvovirus B19 infection in day-care employees: a cohort study among pregnant workers during an epidemic in Finland

Occupational and environmental medicine (London, England), 2014-12, Vol.71 (12), p.836-841

2014

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The GRACILE Mutation Introduced into Bcs1I Causes Postnatal Complex III Deficiency: A Viable Mouse Model for Mitochondrial Hepatopathy

Hepatology (Baltimore, Md.), 2011, Vol.53 (2), p.437-447

2011

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Plasma exchange and retransplantation in recurrent nephrosis of patients with congenital nephrotic syndrome of the Finnish type (NPHS1)

Transplantation, 2007-05, Vol.83 (10), p.1316

2007

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Symptomatic Response to Helicobacter Pylori Eradication in Children With Recurrent Abdominal Pain:: Double Blind Randomized Placebo-controlled Trial

Journal of clinical gastroenterology, 2004-09, Vol.38 (8), p.646-650

2004

Volltextzugriff (PDF)

High expression of pulmonary proteinase-activated receptor 2 in acute and chronic lung injury in preterm infants

Pediatric research, 2005-06, Vol.57 (6), p.831-836

2005

Volltextzugriff (PDF)

Cerebroretinal microangiopathy with calcifications and cysts: Characterization of the skeletal phenotype

American journal of medical genetics. Part A, 2011-06, Vol.155A (6), p.1322-1328

2011

Volltextzugriff (PDF)

Acquired myopathic intestinal pseudo-obstruction may be due to autoimmune enteric leiomyositis

Gastroenterology (New York, N.Y. 1943), 2002-04, Vol.122 (4), p.1133-1139

2002

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Absence of human bocavirus from deceased fetuses and their mothers

Journal of clinical virology, 2010-02, Vol.47 (2), p.186-188

2010

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Tissue expression of nephrin in human and pig

Pediatric research, 2004-05, Vol.55 (5), p.774-781

2004

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G protein-coupled receptor for asthma susceptibility associates with respiratory distress syndrome

Annals of medicine (Helsinki), 2006-01, Vol.38 (5), p.357-366

2006

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Atresia of Proximal Coronary Arteries in Pulmonary Atresia with Intact Ventricular Septum – Fetal and Neonatal Findings

Fetal diagnosis and therapy, 2008-01, Vol.24 (4), p.413-415

2008

Volltextzugriff (PDF)

Metalloelastase (MMP-12) is upregulated in the gut of pediatric patients with potential celiac disease and in type 1 diabetes

Scandinavian journal of gastroenterology, 2005-12, Vol.40 (12), p.1413-1422

2005

Volltextzugriff (PDF)

Farber Disease Diagnosed After Liver Transplantation

Journal of pediatric gastroenterology and nutrition, 2003-02, Vol.36 (2), p.274-277

2003

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The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea

New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

Mutant CHUK and Severe Fetal Encasement Malformation

Expression profiles of matrix metalloproteinases and their inhibitors in colonic inflammation related to pediatric inflammatory bowel disease

Peritubular capillaries are rarefied in congenital nephrotic syndrome of the Finnish type

High frequency of tumours in Mulibrey nanism

Testicular Failure and Male Infertility in the Monogenic Mulibrey Nanism Disorder

Parvovirus B19 Infection in Fetal Deaths

Three-generation Familial Visceral Myopathy With α-actin–positive Inclusion Bodies in Intestinal Smooth Muscle

Kidneys with heavy proteinuria show fibrosis, inflammation, and oxidative stress, but no tubular phenotypic change

Placental growth factor and vascular endothelial growth factor receptor-2 in human lung development

Increased risk of human parvovirus B19 infection in day-care employees: a cohort study among pregnant workers during an epidemic in Finland

The GRACILE Mutation Introduced into Bcs1I Causes Postnatal Complex III Deficiency: A Viable Mouse Model for Mitochondrial Hepatopathy

Plasma exchange and retransplantation in recurrent nephrosis of patients with congenital nephrotic syndrome of the Finnish type (NPHS1)

Symptomatic Response to Helicobacter Pylori Eradication in Children With Recurrent Abdominal Pain:: Double Blind Randomized Placebo-controlled Trial

High expression of pulmonary proteinase-activated receptor 2 in acute and chronic lung injury in preterm infants

Cerebroretinal microangiopathy with calcifications and cysts: Characterization of the skeletal phenotype

Acquired myopathic intestinal pseudo-obstruction may be due to autoimmune enteric leiomyositis

Absence of human bocavirus from deceased fetuses and their mothers

Tissue expression of nephrin in human and pig

G protein-coupled receptor for asthma susceptibility associates with respiratory distress syndrome

Atresia of Proximal Coronary Arteries in Pulmonary Atresia with Intact Ventricular Septum – Fetal and Neonatal Findings

Metalloelastase (MMP-12) is upregulated in the gut of pediatric patients with potential celiac disease and in type 1 diabetes

Farber Disease Diagnosed After Liver Transplantation

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