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Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature

Journal of human genetics, 2015-09, Vol.60 (9), p.553-556

2015

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Increased 8-oxo-dGTPase in the mitochondria of substantia nigral neurons in Parkinson's disease

Annals of neurology, 1999-12, Vol.46 (6), p.920-924

1999

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PP088—Nitrosonifedipine, a photodegradation product of nifedipine, suppress the progression of diabetic nephropathy with the endothelial dysfunction

Clinical therapeutics, 2013-08, Vol.35 (8), p.e45-e45

2013

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Growth hormone deficiency in 2 siblings associated with combined GH1 gene polymorphisms

Experimental and clinical endocrinology & diabetes, 2012-05, Vol.120 (5), p.308-310

2012

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The Leu544Ile polymorphism of the growth hormone receptor gene affects the serum cholesterol levels during GH treatment in children with GH deficiency

Clinical endocrinology (Oxford), 2007-08, Vol.67 (2), p.212-217

2007

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Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis

Journal of human genetics, 2016-07, Vol.61 (7), p.585-591

2016

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Premature mortality and hypopituitarism

The Lancet (British edition), 2001-06, Vol.357 (9272), p.1973-1973

2001

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Acute encephalopathy associated with influenza virus infection in a patient with hyperprolinaemia type II

Journal of inherited metabolic disease, 2005-01, Vol.28 (5), p.789-790

2005

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Association study between CD30 and CD30 ligand genes and type 1 diabetes in the Japanese population

Genes and immunity, 2002-04, Vol.3 (2), p.96-101

2002

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A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl‐phosphate synthetase‐1 activity in liver: A pitfall in enzymatic diagnosis for hyperammonaemia

Journal of inherited metabolic disease, 2005-01, Vol.28 (5), p.681-687

2005

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PD-1 gene haplotype is associated with the development of type 1 diabetes mellitus in Japanese children

Human genetics, 2007-04, Vol.121 (2), p.223-232

2007

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Association study of polymorphisms in SOCS family genes with type 1 diabetes mellitus

International Journal of Immunogenetics, 2006-02, Vol.33 (1), p.7-10

2006

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Growth hormone treatment and type 2 diabetes

Growth hormone & IGF research, 2001-06, Vol.11 (3), p.196-197

2001

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In Vivo Determination of Replication Origins of Human Mitochondrial DNA by Ligation-mediated Polymerase Chain Reaction

The Journal of biological chemistry, 1997-06, Vol.272 (24), p.15275-15279

1997

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Vitamin D deficiency rickets caused by improper lifestyle in Japanese children

Pediatrics international, 2005-04, Vol.47 (2), p.142-146

2005

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145 PROSECTIVE STUDY OF BODY COMPOSITION AND LIPID PROFILES DURING GROWTH HORMONE TREATMENT IN CHILDREN WITE TURNER SYNDROME

Clinical Pediatric Endocrinology, 2003-12, Vol.12 (2), p.146-146

2003

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Association studies of CTLA-4, CD28, and ICOS gene polymorphisms with type 1 diabetes in the Japanese population

Immunogenetics (New York), 2001-08, Vol.53 (6), p.447-454

2001

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The Leu54411e polymorphism of the growth hormone receptor gene affects the serum cholesterol levels during GH treatment in children with GH deficiency

Clinical endocrinology (Oxford), 2007, Vol.67 (2), p.212-217

2007

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Two Cases of Allgrove Syndrome with Mutations in the AAAS Gene

Endocrine Journal, 2004, Vol.51(5), pp.473-477

2004

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Association Study of Human MTH1 Gene Polymorphisms with Type 1 Diabetes Mellitus

Endocrine Journal, 2004, Vol.51(5), pp.493-498

2004

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Improved diabetes control by using 'close adjustment algorithms'

Pediatrics international, 2004-12, Vol.46 (6), p.678-684

2004

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The Content of Intracellular Mitochondrial DNA Is Decreased by 1-Methyl-4-phenylpyridinium Ion (MPP+)

The Journal of biological chemistry, 1997-04, Vol.272 (15), p.9605-9608

1997

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Association study of the NRAMP1 gene promoter polymorphism and early-onset type 1 diabetes

Immunogenetics (New York), 2002-07, Vol.54 (4), p.282-285

2002

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Association study between interleukin-12 receptor beta 1/ beta 2 genes and type 1 diabetes or asthma in the Japanese population

Immunogenetics (New York), 2003-06, Vol.55 (3), p.189-192

2003

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Accumulation of Adenine DNA Glycosylase-sensitive Sites in Human Mitochondrial DNA

The Journal of biological chemistry, 2000-04, Vol.275 (16), p.12326-12330

2000

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Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature

Increased 8-oxo-dGTPase in the mitochondria of substantia nigral neurons in Parkinson's disease

PP088—Nitrosonifedipine, a photodegradation product of nifedipine, suppress the progression of diabetic nephropathy with the endothelial dysfunction

Growth hormone deficiency in 2 siblings associated with combined GH1 gene polymorphisms

The Leu544Ile polymorphism of the growth hormone receptor gene affects the serum cholesterol levels during GH treatment in children with GH deficiency

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis

Premature mortality and hypopituitarism

Acute encephalopathy associated with influenza virus infection in a patient with hyperprolinaemia type II

Association study between CD30 and CD30 ligand genes and type 1 diabetes in the Japanese population

A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl‐phosphate synthetase‐1 activity in liver: A pitfall in enzymatic diagnosis for hyperammonaemia

PD-1 gene haplotype is associated with the development of type 1 diabetes mellitus in Japanese children

Association study of polymorphisms in SOCS family genes with type 1 diabetes mellitus

Growth hormone treatment and type 2 diabetes

In Vivo Determination of Replication Origins of Human Mitochondrial DNA by Ligation-mediated Polymerase Chain Reaction

Vitamin D deficiency rickets caused by improper lifestyle in Japanese children

145 PROSECTIVE STUDY OF BODY COMPOSITION AND LIPID PROFILES DURING GROWTH HORMONE TREATMENT IN CHILDREN WITE TURNER SYNDROME

Association studies of CTLA-4, CD28, and ICOS gene polymorphisms with type 1 diabetes in the Japanese population

The Leu54411e polymorphism of the growth hormone receptor gene affects the serum cholesterol levels during GH treatment in children with GH deficiency

Two Cases of Allgrove Syndrome with Mutations in the AAAS Gene

Association Study of Human MTH1 Gene Polymorphisms with Type 1 Diabetes Mellitus

Improved diabetes control by using 'close adjustment algorithms'

The Content of Intracellular Mitochondrial DNA Is Decreased by 1-Methyl-4-phenylpyridinium Ion (MPP+)

Association study of the NRAMP1 gene promoter polymorphism and early-onset type 1 diabetes

Association study between interleukin-12 receptor beta 1/ beta 2 genes and type 1 diabetes or asthma in the Japanese population

Accumulation of Adenine DNA Glycosylase-sensitive Sites in Human Mitochondrial DNA

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