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1
New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies
New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies
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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 [Peer Reviewed Journal]

2015 INIST-CNRS ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1038/pr.2012.92 ;PMID: 22797137 ;CODEN: PEREBL

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2
Identification of GATA6 Sequence Variants in Patients With Congenital Heart Defects
Identification of GATA6 Sequence Variants in Patients With Congenital Heart Defects
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Identification of GATA6 Sequence Variants in Patients With Congenital Heart Defects

Pediatric research, 2010-10, Vol.68 (4), p.281-285 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright © 2010 International Pediatric Research Foundation, Inc. All rights reserved. 2010 ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1203/PDR.0b013e3181ed17e4 ;PMID: 20581743 ;CODEN: PEREBL

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3
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes
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Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes

Pediatric research, 2015-11, Vol.78 (5), p.533-539 [Peer Reviewed Journal]

ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1038/pr.2015.135 ;PMID: 26200704

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4
A novel surfactant protein C mutation resulting in aberrant protein processing and altered subcellular localization causes infantile interstitial lung disease
A novel surfactant protein C mutation resulting in aberrant protein processing and altered subcellular localization causes infantile interstitial lung disease
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A novel surfactant protein C mutation resulting in aberrant protein processing and altered subcellular localization causes infantile interstitial lung disease

Pediatric research, 2017-06, Vol.81 (6), p.891-897 [Peer Reviewed Journal]

Copyright Nature Publishing Group Jun 2017 ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1038/pr.2017.29 ;PMID: 28157837

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5
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling
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Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling

Pediatric research, 2015-07, Vol.78 (1), p.97-102 [Peer Reviewed Journal]

ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1038/pr.2015.56 ;PMID: 25785835

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6
Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy
Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy
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Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy

Pediatric research, 2010-08, Vol.68 (2), p.159-164 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright © 2010 International Pediatric Research Foundation, Inc. All rights reserved. 2010 ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1203/PDR.0b013e3181e5c3a4 ;PMID: 20453710 ;CODEN: PEREBL

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7
Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9
Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9
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Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9

Pediatric research, 2006-02, Vol.59 (2), p.325-331 [Peer Reviewed Journal]

ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1203/01.pdr.0000196717.94518.f0 ;PMID: 16439601

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8
Saccharomyces boulardii produces in rat small intestine a novel protein phosphatase that inhibits Escherichia coli endotoxin by dephosphorylation
Saccharomyces boulardii produces in rat small intestine a novel protein phosphatase that inhibits Escherichia coli endotoxin by dephosphorylation
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Saccharomyces boulardii produces in rat small intestine a novel protein phosphatase that inhibits Escherichia coli endotoxin by dephosphorylation

Pediatric research, 2006-07, Vol.60 (1), p.24-29 [Peer Reviewed Journal]

ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1203/01.pdr.0000220322.31940.29 ;PMID: 16690953

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9
Antimicrobial peptides as mediators of epithelial host defense
Antimicrobial peptides as mediators of epithelial host defense
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Antimicrobial peptides as mediators of epithelial host defense

Pediatric research, 1999-06, Vol.45 (6), p.785 [Peer Reviewed Journal]

ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1203/00006450-199906000-00001 ;PMID: 10367766

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10
Mutation screening in patients with isolated cytochrome c oxidase deficiency
Mutation screening in patients with isolated cytochrome c oxidase deficiency
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Mutation screening in patients with isolated cytochrome c oxidase deficiency

Pediatric research, 2003-02, Vol.53 (2), p.224-230 [Peer Reviewed Journal]

2003 INIST-CNRS ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1203/00006450-200302000-00005 ;PMID: 12538779 ;CODEN: PEREBL

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11
Glutaryl-CoA dehydrogenase deficiency in Spain : Evidence of two groups of patients, genetically, and biochemically distinct
Glutaryl-CoA dehydrogenase deficiency in Spain : Evidence of two groups of patients, genetically, and biochemically distinct
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Glutaryl-CoA dehydrogenase deficiency in Spain : Evidence of two groups of patients, genetically, and biochemically distinct

Pediatric research, 2000-09, Vol.48 (3), p.315-322 [Peer Reviewed Journal]

2000 INIST-CNRS ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1203/00006450-200009000-00009 ;PMID: 10960496 ;CODEN: PEREBL

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12
A novel ND3 mitochondrial DNA mutation in three korean children with basal ganglia lesions and complex i deficiency
A novel ND3 mitochondrial DNA mutation in three korean children with basal ganglia lesions and complex i deficiency
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A novel ND3 mitochondrial DNA mutation in three korean children with basal ganglia lesions and complex i deficiency

Pediatric research, 2007-05, Vol.61 (5), p.622-624 [Peer Reviewed Journal]

2007 INIST-CNRS ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1203/pdr.0b013e3180459f2d ;PMID: 17413873 ;CODEN: PEREBL

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13
A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality
A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality
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A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality

Pediatric research, 2004-05, Vol.55 (5), p.842-846 [Peer Reviewed Journal]

2004 INIST-CNRS ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1203/01.PDR.0000117844.73436.68 ;PMID: 14764913 ;CODEN: PEREBL

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14
A Zebrafish Model for the Shwachman-Diamond Syndrome (SDS)
A Zebrafish Model for the Shwachman-Diamond Syndrome (SDS)
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A Zebrafish Model for the Shwachman-Diamond Syndrome (SDS)

Pediatric research, 2008-04, Vol.63 (4), p.348-352 [Peer Reviewed Journal]

2008 INIST-CNRS ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1203/PDR.0b013e3181659736 ;PMID: 18356737 ;CODEN: PEREBL

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15
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations
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Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations

Pediatric research, 2001-05, Vol.49 (5), p.618-626 [Peer Reviewed Journal]

ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1203/00006450-200105000-00003 ;PMID: 11328943

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16
A new intronic mutation in the DPM1 gene is associated with a milder form of CDG ie in two french siblings
A new intronic mutation in the DPM1 gene is associated with a milder form of CDG ie in two french siblings
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A new intronic mutation in the DPM1 gene is associated with a milder form of CDG ie in two french siblings

Pediatric research, 2006-06, Vol.59 (6), p.835-839 [Peer Reviewed Journal]

2006 INIST-CNRS ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1203/01.pdr.0000219430.52532.8e ;PMID: 16641202 ;CODEN: PEREBL

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17
Human IL-2 receptor α chain deficiency
Human IL-2 receptor α chain deficiency
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Human IL-2 receptor α chain deficiency

Pediatric research, 2000-07, Vol.48 (1), p.6-11 [Peer Reviewed Journal]

2000 INIST-CNRS ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1203/00006450-200007000-00004 ;PMID: 10879793 ;CODEN: PEREBL

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18
A chicken model for DGCR6 as a modifier gene in the DiGeorge critical region
A chicken model for DGCR6 as a modifier gene in the DiGeorge critical region
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A chicken model for DGCR6 as a modifier gene in the DiGeorge critical region

Pediatric research, 2004-09, Vol.56 (3), p.440-448 [Peer Reviewed Journal]

ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1203/01.PDR.0000136151.50127.1C ;PMID: 15333760

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19
β-Defensin expression in human mammary gland epithelia
β-Defensin expression in human mammary gland epithelia
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β-Defensin expression in human mammary gland epithelia

Pediatric research, 2000-07, Vol.48 (1), p.30-35 [Peer Reviewed Journal]

2000 INIST-CNRS ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1203/00006450-200007000-00008 ;PMID: 10879797 ;CODEN: PEREBL

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20
Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder
Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder
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Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder

Pediatric research, 2005-08, Vol.58 (2), p.263-269 [Peer Reviewed Journal]

2005 INIST-CNRS ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1203/01.pdr.0000169984.89199.69 ;PMID: 16006427 ;CODEN: PEREBL

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