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Identification and evaluation of mental retardation

American family physician, 2000-02, Vol.61 (4), p.1059

2000

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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

Journal of medical genetics, 2012-07, Vol.49 (7), p.473-479

2012

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Aggressive juvenile polyposis in children with chromosome 10q23 deletion

World journal of gastroenterology : WJG, 2013, Vol.19 (14), p.2286-2292

2013

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Comprehensive ZEB2 gene analysis for Mowat–Wilson syndrome in a North American cohort: A suggested approach to molecular diagnostics

American journal of medical genetics. Part A, 2009-11, Vol.149A (11), p.2527-2531

2009

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Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate

American journal of human genetics, 1989-09, Vol.45 (3), p.348-353

1989

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Family history and clefting as major criteria for CHARGE syndrome

American journal of medical genetics. Part A, 2014-01, Vol.164A (1), p.48-53

2014

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Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

Nature genetics, 2004-10, Vol.36 (10), p.1053-1055

2004

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CDKN1C mutations and genital anomalies

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.265-265

2012

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Expanding the phenotype of oculoectodermal syndrome: Possible relationship to encephalocraniocutaneous lipomatosis

American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.2959-2962

2007

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Classification of cardiovascular malformations associated with neuroblastoma

The Journal of pediatrics, 2005-03, Vol.146 (3), p.439-441

2005

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Clinical presentation of velo-cardio-facial syndrome

Progress in pediatric cardiology, 2002, Vol.15 (2), p.93-97

2002

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Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO)

American journal of human genetics, 1993-10, Vol.53 (4), p.836-843

1993

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Petty syndrome and Fontaine–Farriaux syndrome: Delineation of a single syndrome

American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1718-1723

2010

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Historical perspectives of velo-cardio-facial syndrome

Progress in pediatric cardiology, 2002, Vol.15 (2), p.89-92

2002

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RFLP for the human transforming growth factor beta-1 gene (TGFB) on chromosome 19

Nucleic acids research, 1988-08, Vol.16 (16), p.8202-8202

1988

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Linkage of an autosomal dominant clefting syndrome (Van der Woude) to Loci on chromosome Iq

American journal of human genetics, 1990-03, Vol.46 (3), p.486-491

1990

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Iodixanol pharmacokinetics in children

Pediatric cardiology, 2001-05, Vol.22 (3), p.223-227

2001

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Genetic counseling in congenital heart disease

Pediatric annals, 1997-02, Vol.26 (2), p.99-99

Ardinger, Jr, R H

1997

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The Hunter–MacDonald syndrome with expanded phenotype including risk of meningioma: An update and review

American journal of medical genetics. Part A, 2008-01, Vol.146A (1), p.83-92

2008

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Cardiovascular malformations in Smith-Lemli-Opitz syndrome

American journal of medical genetics, 1997-01, Vol.68 (3), p.270-278

1997

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Maternal serum screening and 22q11.2 deletion syndrome

American journal of medical genetics. Part A, 2007-02, Vol.143A (4), p.410-411

2007

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RFLP for the glucocorticoid receptor (GRL) located at 5q11-5q13

Nucleic acids research, 1987-08, Vol.15 (16), p.6765-6765

1987

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Linkage analysis of autosomal dominant atrioventricular canal defects : exclusion of chromosome 21

Human genetics, 1994-02, Vol.93 (2), p.103-108

1994

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Anterior cervical hypertrichosis versus hairy throat

Clinical dysmorphology, 1993-04, Vol.2 (2), p.186

Ardinger, H H

1993

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Identification and evaluation of mental retardation

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

Aggressive juvenile polyposis in children with chromosome 10q23 deletion

Comprehensive ZEB2 gene analysis for Mowat–Wilson syndrome in a North American cohort: A suggested approach to molecular diagnostics

Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate

Family history and clefting as major criteria for CHARGE syndrome

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

CDKN1C mutations and genital anomalies

Expanding the phenotype of oculoectodermal syndrome: Possible relationship to encephalocraniocutaneous lipomatosis

Classification of cardiovascular malformations associated with neuroblastoma

Clinical presentation of velo-cardio-facial syndrome

Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO)

Petty syndrome and Fontaine–Farriaux syndrome: Delineation of a single syndrome

Historical perspectives of velo-cardio-facial syndrome

RFLP for the human transforming growth factor beta-1 gene (TGFB) on chromosome 19

Linkage of an autosomal dominant clefting syndrome (Van der Woude) to Loci on chromosome Iq

Iodixanol pharmacokinetics in children

Genetic counseling in congenital heart disease

The Hunter–MacDonald syndrome with expanded phenotype including risk of meningioma: An update and review

Cardiovascular malformations in Smith-Lemli-Opitz syndrome

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Maternal serum screening and 22q11.2 deletion syndrome

RFLP for the glucocorticoid receptor (GRL) located at 5q11-5q13

Linkage analysis of autosomal dominant atrioventricular canal defects : exclusion of chromosome 21

Anterior cervical hypertrichosis versus hairy throat

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