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An analysis of PAX1 in the development of vertebral malformations

Clinical genetics, 2005-11, Vol.68 (5), p.448-453

2005

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Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia

Nature genetics, 1999-09, Vol.23 (1), p.94-98

1999

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A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST

American journal of medical genetics. Part A, 2008-11, Vol.146A (22), p.2920-2924

2008

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Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15

Neurology, 1999-07, Vol.53 (1), p.50-50

1999

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Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

American journal of human genetics, 2004-07, Vol.75 (1), p.27-34

2004

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Somatic Mosaicism in Fanconi Anemia: Molecular Basis and Clinical Significance

European journal of human genetics : EJHG, 1997-05, Vol.5 (3), p.137-148

1997

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Microdissection-based high-resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes

American journal of medical genetics. Part A, 2006-08, Vol.140A (15), p.1637-1643

2006

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Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: Problems in differential diagnosis and genetic counseling

American journal of medical genetics, 2003-03, Vol.117A (3), p.203-206

2003

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Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene

American journal of human genetics, 2000-02, Vol.66 (2), p.368-377

2000

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Prevention of Fixed, Angular Kyphosis in Achondroplasia

Journal of pediatric orthopaedics, 1997-11, Vol.17 (6), p.726-733

1997

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Genetic heterogeneity in families with hereditary multiple exostoses

American journal of human genetics, 1993-07, Vol.53 (1), p.71-79

1993

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Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia

American journal of human genetics, 1995-03, Vol.56 (3), p.732-744

1995

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Obstructive sleep apnea in children with achondroplasia: Surgical and anesthetic considerations

Otolaryngology-head and neck surgery, 1999-02, Vol.120 (2), p.248-254

1999

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Detection of Chromosomal Aberrations by a Whole-Genome Microsatellite Screen

American journal of human genetics, 2000-02, Vol.66 (2), p.419-427

2000

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Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the Warfarin embryopathy: clues to the mechanism of teratogenicity of coumarin derivatives

American journal of human genetics, 1987-10, Vol.41 (4), p.566-583

1987

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Fine mapping of the nail-patella syndrome locus at 9q34

American journal of human genetics, 1997, Vol.60 (1), p.133-142

1997

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Jugular bulb dehiscence in achondroplasia

International journal of pediatric otorhinolaryngology, 1999-05, Vol.48 (2), p.169-174

1999

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Long-term survival in typical thanatophoric dysplasia type 1

American journal of medical genetics, 1997-06, Vol.70 (4), p.427-436

1997

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Surgical intervention in achondroplasia

American journal of human genetics, 1995-06, Vol.56 (6), p.1501-1502

Pauli, R M

1995

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ERRORS IN THE PRENATAL DIAGNOSIS OF CHILDREN WITH ACHONDROPLASIA

Prenatal diagnosis, 1996-06, Vol.16 (6), p.525-530

1996

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Genetic heterogeneity in multiple epiphyseal dysplasia

American journal of human genetics, 1995-03, Vol.56 (3), p.698-704

1995

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Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

American journal of human genetics, 1999-02, Vol.64 (2), p.435-445

1999

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X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male

American journal of medical genetics, 2003-01, Vol.116A (3), p.255-260

2003

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Biophysical bases for delayed and aberrant motor development in young children with achondroplasia

Journal of developmental and behavioral pediatrics, 1997-06, Vol.18 (3), p.143-150

1997

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Accuracy of fetal death reports: comparison with data from an independent stillbirth assessment program

American journal of public health (1971), 1987-09, Vol.77 (9), p.1202-1205

1987

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An analysis of PAX1 in the development of vertebral malformations

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia

A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST

Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15

Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

Somatic Mosaicism in Fanconi Anemia: Molecular Basis and Clinical Significance

Microdissection-based high-resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes

Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: Problems in differential diagnosis and genetic counseling

Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene

Prevention of Fixed, Angular Kyphosis in Achondroplasia

Genetic heterogeneity in families with hereditary multiple exostoses

Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia

Obstructive sleep apnea in children with achondroplasia: Surgical and anesthetic considerations

Detection of Chromosomal Aberrations by a Whole-Genome Microsatellite Screen

Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the Warfarin embryopathy: clues to the mechanism of teratogenicity of coumarin derivatives

Fine mapping of the nail-patella syndrome locus at 9q34

Jugular bulb dehiscence in achondroplasia

Long-term survival in typical thanatophoric dysplasia type 1

Surgical intervention in achondroplasia

ERRORS IN THE PRENATAL DIAGNOSIS OF CHILDREN WITH ACHONDROPLASIA

Genetic heterogeneity in multiple epiphyseal dysplasia

Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male

Biophysical bases for delayed and aberrant motor development in young children with achondroplasia

Accuracy of fetal death reports: comparison with data from an independent stillbirth assessment program

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