Lista de obras - John Dean - Dominio Público Uruguay

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

artículo científico publicado en 2015

Characteristics of fetal anticonvulsant syndrome associated autistic disorder.

artículo científico publicado en 2005

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

artículo científico publicado en 1999

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

artículo científico publicado en 2007

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

artículo científico publicado en 2020

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

artículo científico publicado en 2013

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

artículo científico publicado en 2007

Elastin: mutational spectrum in supravalvular aortic stenosis.

artículo científico publicado en 2000

Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene

artículo científico publicado en 1999

Genetic prediction of adult onset disease.

artículo científico publicado en 1994

Haemochromatosis mutations in North-East Scotland

artículo científico publicado en 1999

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

artículo científico publicado en 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

artículo científico publicado en 1990

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

artículo científico publicado en 2007

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

artículo científico publicado en 2011

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

artículo científico publicado en 2004

Nuchal thickening in Jacobsen syndrome

artículo científico publicado en 1998

Ophthalmic findings in fetal anticonvulsant syndrome(s).

artículo científico publicado en 2002

Partial lipodystrophy presenting with myopathy.

artículo científico publicado en 1999

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

artículo científico publicado en 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

artículo científico publicado en 1999

Quantifying the contribution of recessive coding variation to developmental disorders

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Turner's syndrome with sex chromosome mosaicism

artículo científico publicado en 1995

Lista de obras de 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