List of works - John Dean

A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing

scientific article published on 14 October 2015

Characteristics of fetal anticonvulsant syndrome associated autistic disorder.

scientific article

Chromosome 22q11 microdeletion and congenital heart disease--a survey in a paediatric population

scientific article published on 01 July 1999

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Deletion of Exon 1 in <i>AMER1</i> in Osteopathia Striata with Cranial Sclerosis

scientific article published on 30 November 2020

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

scientific article published on 21 March 2013

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

scientific article

Elastin: mutational spectrum in supravalvular aortic stenosis.

scientific article

Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene

scientific article

Genetic prediction of adult onset disease.

scientific article published on February 1994

Haemochromatosis mutations in North-East Scotland

scientific article published on 01 August 1999

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

scientific article published on 19 February 2007

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

scientific article published on 02 December 2020

Isolated hypogonadotrophic hypogonadism: a family with autosomal dominant inheritance

scientific article published on 01 March 1990

Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland.

scientific article published on 11 October 2007

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

scientific article

No association between polymorphisms of methylenetetrahydrofolate reductase gene and schizophrenia in both Chinese and Scottish populations.

scientific article

Nuchal thickening in Jacobsen syndrome

scientific article published on 01 October 1998

Ophthalmic findings in fetal anticonvulsant syndrome(s).

scientific article published in May 2002

Partial lipodystrophy presenting with myopathy.

scientific article published in February 1999

Preliminary phenotypic map of chromosome 4p16 based on 4p deletions.

scientific article published in July 1995

Prenatal diagnosis for the cystic fibrosis mutation 1717-1, G-->A using arms

scientific article published on 01 October 1992

Protrusio acetabuli in Marfan's syndrome

scientific article published on 01 February 1999

Quantifying the contribution of recessive coding variation to developmental disorders

scientific article published in Science

Structural and electrical cardiac abnormalities are prevalent in asymptomatic adults with myotonic dystrophy.

scientific article

Turner's syndrome with sex chromosome mosaicism

scientific article published on 01 March 1995

List of works by John Dean

A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing

Characteristics of fetal anticonvulsant syndrome associated autistic disorder.

Chromosome 22q11 microdeletion and congenital heart disease--a survey in a paediatric population

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Deletion of Exon 1 in <i>AMER1</i> in Osteopathia Striata with Cranial Sclerosis

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Elastin: mutational spectrum in supravalvular aortic stenosis.

Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene

Genetic prediction of adult onset disease.

Haemochromatosis mutations in North-East Scotland

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

Isolated hypogonadotrophic hypogonadism: a family with autosomal dominant inheritance

Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland.

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

No association between polymorphisms of methylenetetrahydrofolate reductase gene and schizophrenia in both Chinese and Scottish populations.

Nuchal thickening in Jacobsen syndrome

Ophthalmic findings in fetal anticonvulsant syndrome(s).

Partial lipodystrophy presenting with myopathy.

Preliminary phenotypic map of chromosome 4p16 based on 4p deletions.

Prenatal diagnosis for the cystic fibrosis mutation 1717-1, G-->A using arms

Protrusio acetabuli in Marfan's syndrome

Quantifying the contribution of recessive coding variation to developmental disorders

Structural and electrical cardiac abnormalities are prevalent in asymptomatic adults with myotonic dystrophy.

Turner's syndrome with sex chromosome mosaicism