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Genetic and clinical analysis of a large Dutch Gilles de la Tourette family

Molecular psychiatry, 2006-10, Vol.11 (10), p.954-964

2006

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Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A

Molecular syndromology, 2010-09, Vol.1 (3), p.113-120

2010

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Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

Nature (London), 1993-06, Vol.363 (6431), p.722-724

1993

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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

Cell, 1991-12, Vol.67 (6), p.1047-1058

1991

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Identification of the critical region of 12p over-representation in testicular germ cell tumors of adolescents and adults

Oncogene, 1998-05, Vol.16 (20), p.2617-2627

1998

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Heterogeneous X Inactivation in Trophoblastic Cells of Human Full-Term Female Placentas

American journal of human genetics, 1999-05, Vol.64 (5), p.1445-1452

1999

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Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE

Nature genetics, 1994-11, Vol.8 (3), p.229-235

1994

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Cntnap2 is disrupted in a family with gilles de la tourette syndrome and obsessive compulsive disorder

Genomics (San Diego, Calif.), 2003-07, Vol.82 (1), p.1-9

2003

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Methylation similarities of two CpG sites within exon 5 of human H19 between normal tissues and testicular germ cell tumours of adolescents and adults, without correlation with allelic and total level of expression

British journal of cancer, 1997, Vol.76 (6), p.725-733

1997

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Three different rinsing times and inhibition of plaque accumulation with chlorhexidine

Journal of clinical periodontology, 2005-01, Vol.32 (1), p.89-92

2005

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Alternative splicing in the fragile X gene FMR1

Human molecular genetics, 1993-04, Vol.2 (4), p.399-404

1993

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H19 in normal development and neoplasia

Molecular reproduction and development, 1997-03, Vol.46 (3), p.419-439

1997

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Mental Status and Fragile X Expression in Relation to FMR-1 Gene Mutation

European journal of human genetics : EJHG, 1993-01, Vol.1 (1), p.72-79

1993

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The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation

Chromosoma, 1992-04, Vol.101 (7), p.381-387

1992

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The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm

Nature genetics, 1993-06, Vol.4 (2), p.143-146

1993

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Genetic mapping on the mouse X chromosome of human cDNA clones for the Fragile X and Hunter syndromes

Genomics (San Diego, Calif.), 1992-04, Vol.12 (4), p.814-817

1992

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Interdisciplinary and Social Nature of Engineering Practices: Philosophy, Examples and Approaches

1, 2022

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Unique expression patterns of H19 in human testicular cancers of different etiology

Oncogene, 1997-01, Vol.14 (1), p.95-107

1997

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Unique expression patterns of H19 in human testicular cancers of different etiology

Oncogene, 1997-01, Vol.14 (1), p.95-107

1997

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Genomic imprinting in testicular germ cell tumours

APMIS : acta pathologica, microbiologica et immunologica Scandinavica, 1998-01, Vol.106 (1-6), p.187-197

1998

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Characterization of the imprinted IPW gene: allelic expression in normal and tumorigenic human tissues

Oncogene, 1996-10, Vol.13 (8), p.1687-1692

1996

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Alternative splicing in the fragile X gene FMR1

Human molecular genetics, 1993-08, Vol.2 (8), p.1348-1348

1993

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Interdisciplinary and Social Nature of Engineering Practices: Philosophy, Examples and Approaches

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Industrial Innovation Practices Breakthrough by Process Intensification

Interdisciplinary and Social Nature of Engineering Practices, p.105-118

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Genetic and clinical analysis of a large Dutch Gilles de la Tourette family

Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

Identification of the critical region of 12p over-representation in testicular germ cell tumors of adolescents and adults

Heterogeneous X Inactivation in Trophoblastic Cells of Human Full-Term Female Placentas

Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE

Cntnap2 is disrupted in a family with gilles de la tourette syndrome and obsessive compulsive disorder

Methylation similarities of two CpG sites within exon 5 of human H19 between normal tissues and testicular germ cell tumours of adolescents and adults, without correlation with allelic and total level of expression

Three different rinsing times and inhibition of plaque accumulation with chlorhexidine

Alternative splicing in the fragile X gene FMR1

H19 in normal development and neoplasia

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Mental Status and Fragile X Expression in Relation to FMR-1 Gene Mutation

The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm

Genetic mapping on the mouse X chromosome of human cDNA clones for the Fragile X and Hunter syndromes

Interdisciplinary and Social Nature of Engineering Practices: Philosophy, Examples and Approaches

Unique expression patterns of H19 in human testicular cancers of different etiology

Unique expression patterns of H19 in human testicular cancers of different etiology

Genomic imprinting in testicular germ cell tumours

Characterization of the imprinted IPW gene: allelic expression in normal and tumorigenic human tissues

Alternative splicing in the fragile X gene FMR1

Interdisciplinary and Social Nature of Engineering Practices: Philosophy, Examples and Approaches

Industrial Innovation Practices Breakthrough by Process Intensification

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