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Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation

Annals of neurology, 2002-02, Vol.51 (2), p.190-201

2002

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A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population

BMC medical genetics, 2011-07, Vol.12 (1), p.91-91, Article 91

2011

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The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario

BMC pediatrics, 2010-11, Vol.10 (1), p.82-82, Article 82

2010

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A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type

American journal of medical genetics. Part A, 2004-07, Vol.128A (1), p.39-45

2004

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Renal Failure Associated with APECED and Terminal 4q Deletion : Evidence of Autoimmune Nephropathy

Clinical & developmental immunology, 2010-01, Vol.2010 (2010), p.1-7

2010

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Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome

American journal of medical genetics. Part A, 2004-08, Vol.129A (1), p.73-76

2004

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Clinical and genetic aspects of trigonocephaly: A study of 25 cases

American journal of medical genetics. Part A, 2003-03, Vol.117A (2), p.127-135

2003

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Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia

American journal of medical genetics. Part A, 2005-08, Vol.137A (2), p.153-160

2005

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Cornelia de Lange syndrome: Parental preferences regarding the provision of medical information

American journal of medical genetics. Part A, 2006-10, Vol.140A (20), p.2170-2179

2006

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Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: New syndromic spectrum?

American journal of medical genetics, 2004-12, Vol.131A (3), p.318-319

2004

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Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype

Journal of medical genetics, 1999-11, Vol.36 (11), p.854-855

1999

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USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis

Molecular vision, 2012, Vol.18, p.1885-1894

2012

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The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency

BMC pediatrics, 2010-11, Vol.10, p.82

2010

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Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

Journal of immunology research, 2010, Vol.2010 (2010), p.1-7

2010

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Mobile Pre-School Units in New Zealand. Volume II: A Series of Case Studies

Kennedy, Shelley

1991

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Mobile Pre-School Units in New Zealand. Volume I

Kennedy, Shelley

1990

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Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome

American journal of medical genetics, 2004, Vol.129A (1), p.73-76

2004

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Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome

American Journal of Medical Genetics Part A, 2004, Vol.129A (1), p.73-76

2004

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The effect of improving preschool teacher/child ratios: an "experiment in nature"

Early child development and care, 1988-01, Vol.41 (1), p.123-138

1988

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Genetic analysis of patients with the Saethre-Chotzen phenotype

American journal of medical genetics, 2002-06, Vol.110 (2), p.136-143

2002

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Detecting rearrangements in children using subtelomeric FISH and SKY

American journal of medical genetics, 2002-02, Vol.107 (4), p.267-274

2002

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Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia

American journal of medical genetics, 2005, Vol.137A (2), p.153-160

2005

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Early childhood teachers: Roles and relationships

Early child development and care, 1992-01, Vol.83 (1), p.33-44

1992

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Inherited duplication, dup (8) (p23.1p23.1) pat, in a father and daughter with congenital heart defects

American journal of medical genetics, 2001-11, Vol.104 (1), p.79-80

2001

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Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2

American journal of medical genetics, 2002-01, Vol.107 (1), p.43-47

2002

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Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation

A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population

The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario

A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type

Renal Failure Associated with APECED and Terminal 4q Deletion : Evidence of Autoimmune Nephropathy

Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome

Clinical and genetic aspects of trigonocephaly: A study of 25 cases

Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia

Cornelia de Lange syndrome: Parental preferences regarding the provision of medical information

Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: New syndromic spectrum?

Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis

The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency

Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

Mobile Pre-School Units in New Zealand. Volume II: A Series of Case Studies

Mobile Pre-School Units in New Zealand. Volume I

Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome

Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome

The effect of improving preschool teacher/child ratios: an "experiment in nature"

Genetic analysis of patients with the Saethre-Chotzen phenotype

Detecting rearrangements in children using subtelomeric FISH and SKY

Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia

Early childhood teachers: Roles and relationships

Inherited duplication, dup (8) (p23.1p23.1) pat, in a father and daughter with congenital heart defects

Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2

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