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Periderm prevents pathological epithelial adhesions during embryogenesis

The Journal of clinical investigation, 2014-09, Vol.124 (9), p.3891-3900

2014

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Maternal asthma is associated with increased risk of perinatal mortality

PloS one, 2018-05, Vol.13 (5), p.e0197593-e0197593

2018

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Metabolite profiles reveal energy failure and impaired beta-oxidation in liver of mice with complex III deficiency due to a BCS1L mutation

PloS one, 2012-07, Vol.7 (7), p.e41156

2012

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High-sensitivity C-reactive protein in paediatric inflammatory bowel disease

World journal of gastroenterology : WJG, 2010-06, Vol.16 (23), p.2901-2906

2010

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Matrix metalloproteinases in the restorative proctocolectomy pouch of pediatric ulcerative colitis

World journal of gastroenterology : WJG, 2012-08, Vol.18 (30), p.4028-4036

2012

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Thiotepa and melphalan based single, tandem, and triple high dose therapy and autologous stem cell transplantation for high risk neuroblastoma

Pediatric blood & cancer, 2012-12, Vol.59 (7), p.1190-1197

2012

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Ultrahigh-risk group within the high-risk neuroblastoma category

Journal of pediatric hematology/oncology, 2013-08, Vol.35 (6), p.e254-e259

2013

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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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Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism

Biology open, 2016-05, Vol.5 (5), p.584-595

2016

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Newly discovered KI, WU, and Merkel cell polyomaviruses: no evidence of mother-to-fetus transmission

Virology journal, 2010-09, Vol.7 (1), p.251-251, Article 251

2010

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Sleep-related breathing disorder in non-infectious pulmonary complications after pediatric allogeneic stem cell transplantation

Pediatric research, 2023-06, Vol.93 (7), p.1983-1989

2023

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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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Segregation of a Missense Variant in Enteric Smooth Muscle Actin γ -2 With Autosomal Dominant Familial Visceral Myopathy

Gastroenterology (New York, N.Y. 1943), 2012-12, Vol.143 (6), p.1482-1491.e3

2012

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The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: A viable mouse model for mitochondrial hepatopathy

Hepatology (Baltimore, Md.), 2011-02, Vol.53 (2), p.437-447

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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Clinical outcome and occurrence of uveitis in children with idiopathic tubulointerstitial nephritis

Pediatric nephrology (Berlin, West), 2011-02, Vol.26 (2), p.291-299

2011

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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

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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 alpha-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.340-346

2008

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Periderm prevents pathological epithelial adhesions during embryogenesis

Maternal asthma is associated with increased risk of perinatal mortality

Metabolite profiles reveal energy failure and impaired beta-oxidation in liver of mice with complex III deficiency due to a BCS1L mutation

High-sensitivity C-reactive protein in paediatric inflammatory bowel disease

Matrix metalloproteinases in the restorative proctocolectomy pouch of pediatric ulcerative colitis

Thiotepa and melphalan based single, tandem, and triple high dose therapy and autologous stem cell transplantation for high risk neuroblastoma

Ultrahigh-risk group within the high-risk neuroblastoma category

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

Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism

Newly discovered KI, WU, and Merkel cell polyomaviruses: no evidence of mother-to-fetus transmission

Sleep-related breathing disorder in non-infectious pulmonary complications after pediatric allogeneic stem cell transplantation

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

Segregation of a Missense Variant in Enteric Smooth Muscle Actin γ -2 With Autosomal Dominant Familial Visceral Myopathy

The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: A viable mouse model for mitochondrial hepatopathy

Mutant CHUK and Severe Fetal Encasement Malformation

Clinical outcome and occurrence of uveitis in children with idiopathic tubulointerstitial nephritis

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 alpha-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

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