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A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate

Clinical genetics, 2007-07, Vol.72 (1), p.19-22

2007

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Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

Journal of medical genetics, 2008-12, Vol.45 (12), p.787-793

2008

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ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

Journal of medical genetics, 2008-02, Vol.45 (2), p.100-105

2008

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A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58

Journal of medical genetics, 2002-06, Vol.39 (6), p.430-433

2002

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Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene

Journal of medical genetics, 2006-06, Vol.43 (6), p.e30-e30

2006

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Molecular Cloning and Characterization of TRPC5 (HTRP5), the Human Homologue of a Mouse Brain Receptor-Activated Capacitative Ca2+ Entry Channel

Genomics (San Diego, Calif.), 1999-09, Vol.60 (3), p.330-340

1999

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Molecular cloning and sequence analysis of yps-3, a yeast-phase-specific gene in the dimorphic fungal pathogen Histoplasma capsulatum

Microbiology (Society for General Microbiology), 1994-04, Vol.140 ( Pt 4), p.759

1994

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Identification and Characterization of a Phase-Specific, Nuclear DNA Binding Protein from the Dimorphic Pathogenic Fungus Histoplasma capsulatum

Infection and Immunity, 1998-08, Vol.66 (8), p.3867-3873

1998

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ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

BMJ case reports, 2009, Vol.2009 (jul02 1), p.bcr0620091999-bcr0620091999

2009

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A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

Human molecular genetics, 2005-04, Vol.14 (8), p.1019-1027

2005

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1.5-Mb YAC Contig in Xq28 Formatted with Sequence-Tagged Sites and Including a Region Unstable in the Clones

Genomics (San Diego, Calif.), 1993-06, Vol.16 (3), p.586-592

1993

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Yeast artificial chromosomes containing human Xq24–Xq28 DNA: Library construction and representation of probe sequences

Genomics (San Diego, Calif.), 1990-07, Vol.7 (3), p.363-376

1990

Volltextzugriff (PDF)

Lectin-binding assay by polyethylene glycol 8000

Analytical biochemistry, 1987-11, Vol.166 (2), p.257-266

1987

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Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome

European journal of human genetics : EJHG, 2005-02, Vol.13 (2), p.176-183

2005

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Short Report: A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate

Clinical genetics, 2007-07, Vol.72 (1), p.19

2007

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Human glucose-6-phosphate dehydrogenase gene carried on a yeast artificial chromosome encodes active enzyme in monkey cells

Genomics (San Diego, Calif.), 1990-08, Vol.7 (4), p.531-534

1990

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Fluorescence anisotropy of IAEDANS-labelled L7/L12 attached to rRNAs and ribosomes

Indian journal of biochemistry & biophysics, 1988-06, Vol.25 (3), p.226

1988

Volltextzugriff (PDF)

Molecular Cloning and Characterization of TRPC5 (HTRP5), the Human Homologue of a Mouse Brain Receptor-Activated Capacitative Ca Entry Channel

Genomics (San Diego, Calif.), 1999-09, Vol.60 (3), p.330-340

1999

Volltextzugriff (PDF)

ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

Journal of medical genetics, 2008, Vol.45 (2), p.100-105

2008

Volltextzugriff (PDF)

Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene

Journal of medical genetics, 2006, Vol.43 (6), p.e30-e30

2006

Volltextzugriff (PDF)

Family MRX9 revisited: Further evidence for locus heterogeneity in MRX

American journal of medical genetics, 2002-09, Vol.112 (1), p.17-22

2002

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Adaptive functional reorganization in amyotrophic lateral sclerosis: coexisting degenerative and compensatory changes

European journal of neurology, 2020-01, Vol.27 (1), p.121-128

2020

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Metformin as a potential disease-modifying drug in osteoarthritis: a systematic review of pre-clinical and human studies

Osteoarthritis and cartilage, 2022-11, Vol.30 (11), p.1434-1442

2022

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Primary and secondary organic aerosol origin by combined gas-particle phase source apportionment

Atmospheric chemistry and physics, 2013-08, Vol.13 (16), p.8411-8426

2013

Volltextzugriff (PDF)

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Nature genetics, 2009-05, Vol.41 (5), p.535-543

2009

Volltextzugriff (PDF)

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A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58

Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene

Molecular Cloning and Characterization of TRPC5 (HTRP5), the Human Homologue of a Mouse Brain Receptor-Activated Capacitative Ca2+ Entry Channel

Molecular cloning and sequence analysis of yps-3, a yeast-phase-specific gene in the dimorphic fungal pathogen Histoplasma capsulatum

Identification and Characterization of a Phase-Specific, Nuclear DNA Binding Protein from the Dimorphic Pathogenic Fungus Histoplasma capsulatum

ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

1.5-Mb YAC Contig in Xq28 Formatted with Sequence-Tagged Sites and Including a Region Unstable in the Clones

Yeast artificial chromosomes containing human Xq24–Xq28 DNA: Library construction and representation of probe sequences

Lectin-binding assay by polyethylene glycol 8000

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome

Short Report: A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate

Human glucose-6-phosphate dehydrogenase gene carried on a yeast artificial chromosome encodes active enzyme in monkey cells

Fluorescence anisotropy of IAEDANS-labelled L7/L12 attached to rRNAs and ribosomes

Molecular Cloning and Characterization of TRPC5 (HTRP5), the Human Homologue of a Mouse Brain Receptor-Activated Capacitative Ca Entry Channel

ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene

Family MRX9 revisited: Further evidence for locus heterogeneity in MRX

Adaptive functional reorganization in amyotrophic lateral sclerosis: coexisting degenerative and compensatory changes

Metformin as a potential disease-modifying drug in osteoarthritis: a systematic review of pre-clinical and human studies

Primary and secondary organic aerosol origin by combined gas-particle phase source apportionment

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

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