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An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas

Clinical genetics, 2005-12, Vol.68 (6), p.542-547

2005

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Idiopathic renal haematuria in a 15-year-old Arabian mare

Veterinary record, 2008-02, Vol.162 (8), p.251-252

2008

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CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1

European journal of human genetics : EJHG, 1995, Vol.3 (5), p.273-284

1995

Volltextzugriff (PDF)

Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)[sub n] repeat variation and selection against extreme expansion in sperm

American journal of human genetics, 1994-04, Vol.54:4

1994

Volltextzugriff (PDF)

Endoscopic determination of exercise-induced pulmonary haemorrhage in Chilean Criollo horses

The veterinary journal (1997), 2005-03, Vol.169 (2), p.311-313

2005

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Grass sickness in horses in southern Chile

Veterinary record, 2002-06, Vol.150 (22), p.695-697

2002

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Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients

Clinical genetics, 2006-10, Vol.70 (4), p.355-359

2006

Volltextzugriff (PDF)

A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)

Human mutation, 1996, Vol.8 (4), p.391-391

1996

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L1-Associated Diseases: Clinical Geneticists Divide, Molecular Geneticists Unite

Human molecular genetics, 1997-01, Vol.6 (10), p.1625-1632

1997

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A point mutation in the FMR-1 gene associated with fragile X mental retardation

Nature genetics, 1993-01, Vol.3 (1), p.31-35

1993

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Localization of a Gene Responsible for Nonspecific Mental Retardation (MRX9) to the Pericentromeric Region of the X Chromosome

Genomics (San Diego, Calif.), 1993-11, Vol.18 (2), p.290-294

1993

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Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses

Human molecular genetics, 1996-10, Vol.5 (10), p.1547-1557

1996

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Genotype-phenotype correlation in L1 associated diseases

Journal of medical genetics, 1998-05, Vol.35 (5), p.399-404

1998

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Short Report: An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas[1]

Clinical genetics, 2005-12, Vol.68 (6), p.542-547

2005

Volltextzugriff (PDF)

BglII RFLP in DXS498 between the pigment gene repeat unit, RCP and GCP

Human genetics, 1992-11, Vol.90 (3)

1992

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

PCR detection of a BclI RFLP in the G6PD gene of Caucasians

Human genetics, 1992-07, Vol.89 (5), p.579-579

1992

Volltextzugriff (PDF)

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM

Nature genetics, 1994-07, Vol.7 (3), p.408-413

1994

Volltextzugriff (PDF)

Gonosomal mosaicism in myotonic dystrophy patients : involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm

American journal of human genetics, 1994-04, Vol.54 (4), p.575-585

1994

Volltextzugriff (PDF)

MspI RFLP in the L1 CAM gene in Xq28

Nucleic acids research, 1991-10, Vol.19 (19), p.5448-5448

1991

Volltextzugriff (PDF)

Mspl RFLP in the L1 CAM gene in Xq28

Nucleic acids research, 1991-10, Vol.19 (19), p.5448-5448

1991

Volltextzugriff (PDF)

A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11

American journal of human genetics, 1999-11, Vol.65 (5), p.1406-1412

1999

Volltextzugriff (PDF)

A case of atresia ani with rectovestibular fistulae in an alpaca (L. pacos)

DTW. Deutsche tierarztliche Wochenschrift, 1993-12, Vol.100 (12), p.495

1993

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A duplication in the L1CAM gene associated with X-linked hydrocephalus

Nature genetics, 1993-08, Vol.4 (4), p.421-425

1993

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DNA Diagnosis of Cystic Fibrosis by Direct Detection of the Af508 Mutation

Acta clinica belgica (English ed. Online), 1991-01, Vol.46 (1), p.13-17

1991

Volltextzugriff (PDF)

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An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas

Idiopathic renal haematuria in a 15-year-old Arabian mare

CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1

Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)[sub n] repeat variation and selection against extreme expansion in sperm

Endoscopic determination of exercise-induced pulmonary haemorrhage in Chilean Criollo horses

Grass sickness in horses in southern Chile

Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients

A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)

L1-Associated Diseases: Clinical Geneticists Divide, Molecular Geneticists Unite

A point mutation in the FMR-1 gene associated with fragile X mental retardation

Localization of a Gene Responsible for Nonspecific Mental Retardation (MRX9) to the Pericentromeric Region of the X Chromosome

Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses

Genotype-phenotype correlation in L1 associated diseases

Short Report: An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas[1]

BglII RFLP in DXS498 between the pigment gene repeat unit, RCP and GCP

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

PCR detection of a BclI RFLP in the G6PD gene of Caucasians

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM

Gonosomal mosaicism in myotonic dystrophy patients : involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm

MspI RFLP in the L1 CAM gene in Xq28

Mspl RFLP in the L1 CAM gene in Xq28

A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11

A case of atresia ani with rectovestibular fistulae in an alpaca (L. pacos)

A duplication in the L1CAM gene associated with X-linked hydrocephalus

DNA Diagnosis of Cystic Fibrosis by Direct Detection of the Af508 Mutation

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