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Methylation of an intronic region regulates miR-199a in testicular tumor malignancy

Oncogene, 2011-08, Vol.30 (31), p.3404-3415

2011

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Genome-wide DNA methylation profiling reveals novel epigenetically regulated genes and non-coding RNAs in human testicular cancer

British journal of cancer, 2010-01, Vol.102 (2), p.419-427

2010

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Functional genomics of human brain development and implications for autism spectrum disorders

Translational psychiatry, 2015-10, Vol.5 (10), p.e665-e665

2015

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Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain

Molecular and cellular endocrinology, 2005-01, Vol.229 (1), p.57-64

2005

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Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations

Journal of inherited metabolic disease, 1997-03, Vol.20 (1), p.67-73

1997

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Testicular seminoma in a patient with a constitutively activating mutation of the luteinizing hormone/chorionic gonadotropin receptor

European journal of endocrinology, 1998-07, Vol.139 (1), p.101-106

1998

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Gitelman's syndrome (familial hypokalemia-hypomagnesemia)

Journal of nephrology, 2001-01, Vol.14 (1), p.43-47

2001

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Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients : absence of the common Jewish 84GG and 1226G mutations

Human genetics, 1995-06, Vol.95 (6), p.717-720

1995

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Development of a human mitochondria-focused cDNA microarray (hMitChip) and validation in skeletal muscle cells: implications for pharmaco- and mitogenomics

The pharmacogenomics journal, 2006-09, Vol.6 (5), p.333-342

2006

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Kidney abnormalities in Hajdu-Cheney syndrome

Pediatric nephrology (Berlin, West), 1996-12, Vol.10 (6), p.712-715

1996

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GermlncRNA: a unique catalogue of long non-coding RNAs and associated regulations in male germ cell development

Database : the journal of biological databases and curation, 2015, Vol.2015, p.bav044-bav044

2015

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Do clocks run clockwise?

Pediatric annals, 1995-11, Vol.24 (11), p.564, 591

Rennert, O M

1995

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Congenital adrenal hyperplasia : Molecular genetics and alternative approaches to treatment

Advances in pediatrics, 1995, Vol.42 (1), p.113-143

1995

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Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3)

American journal of medical genetics, 1998-09, Vol.79 (3), p.209-214

1998

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Pathological and biochemical studies of fetal Krabbe disease

Brain & development (Tokyo. 1979), 1994-11, Vol.16 (6), p.480-484

1994

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Managed care and the Hippocratic Oath

Pediatric annals, 1996-12, Vol.25 (12), p.657-658

Rennert, O M

1996

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Familial congenital diaphragmatic hernia is an autosomal recessive variant

Journal of pediatric surgery, 1989-09, Vol.24 (9), p.860-864

1989

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Characterization of the cDNA encoding human nucleophosmin and studies of its role in normal and abnormal growth

Biochemistry (Easton), 1989-02, Vol.28 (3), p.1033-1039

1989

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Case report on SHORT syndrome

Clinical dysmorphology, 1999-07, Vol.8 (3), p.219-222

1999

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Segregation of Allgrove (triple-A) syndrome in Puerto Rican kindreds with chromosome 12 (12q13) polymorphic markers

Proceedings of the Association of American Physicians, 1997-09, Vol.109 (5), p.478-482

1997

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Effects of enzyme replacement therapy in thirteen Japanese paediatric patients with Gaucher disease

European journal of pediatrics, 2001, Vol.160 (1), p.21-25

2001

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Tissue Zinc and Copper Levels in Diabetic C57BL/KsJ (db/db) Mice Fed a Zinc-Deficient Diet: Lack of Evidence for Specific Depletion of Tissue Zinc Stores

The Journal of nutrition, 1988-12, Vol.118 (12), p.1502-1508

1988

Volltextzugriff (PDF)

Cloning of a Human Acid Sphingomyelinase cDNA with a New Mutation That Renders the Enzyme Inactive

Journal of biochemistry (Tokyo), 1993-07, Vol.114 (1), p.15-20

1993

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Zinc deficiency acts as a co-teratogen with alcohol in fetal alcohol syndrome

Pediatric research, 1985-09, Vol.19 (9), p.944-947

1985

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Polymorphisms in the coding exons of the human luteinizing hormone receptor gene. Mutations in brief no. 124. Online

Human mutation, 1998, Vol.11 (4), p.333-334

1998

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Methylation of an intronic region regulates miR-199a in testicular tumor malignancy

Genome-wide DNA methylation profiling reveals novel epigenetically regulated genes and non-coding RNAs in human testicular cancer

Functional genomics of human brain development and implications for autism spectrum disorders

Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain

Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations

Testicular seminoma in a patient with a constitutively activating mutation of the luteinizing hormone/chorionic gonadotropin receptor

Gitelman's syndrome (familial hypokalemia-hypomagnesemia)

Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients : absence of the common Jewish 84GG and 1226G mutations

Development of a human mitochondria-focused cDNA microarray (hMitChip) and validation in skeletal muscle cells: implications for pharmaco- and mitogenomics

Kidney abnormalities in Hajdu-Cheney syndrome

GermlncRNA: a unique catalogue of long non-coding RNAs and associated regulations in male germ cell development

Do clocks run clockwise?

Congenital adrenal hyperplasia : Molecular genetics and alternative approaches to treatment

Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3)

Pathological and biochemical studies of fetal Krabbe disease

Managed care and the Hippocratic Oath

Familial congenital diaphragmatic hernia is an autosomal recessive variant

Characterization of the cDNA encoding human nucleophosmin and studies of its role in normal and abnormal growth

Case report on SHORT syndrome

Segregation of Allgrove (triple-A) syndrome in Puerto Rican kindreds with chromosome 12 (12q13) polymorphic markers

Effects of enzyme replacement therapy in thirteen Japanese paediatric patients with Gaucher disease

Tissue Zinc and Copper Levels in Diabetic C57BL/KsJ (db/db) Mice Fed a Zinc-Deficient Diet: Lack of Evidence for Specific Depletion of Tissue Zinc Stores

Cloning of a Human Acid Sphingomyelinase cDNA with a New Mutation That Renders the Enzyme Inactive

Zinc deficiency acts as a co-teratogen with alcohol in fetal alcohol syndrome

Polymorphisms in the coding exons of the human luteinizing hormone receptor gene. Mutations in brief no. 124. Online

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