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

Brain (London, England : 1878), 2007-08, Vol.130 (8), p.2045-2054

2007

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Marfan syndrome: clinical diagnosis and management

European journal of human genetics : EJHG, 2007-07, Vol.15 (7), p.724-733

Dean, John C S

2007

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Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study

American journal of medical genetics, 2005-02, Vol.132A (4), p.352-360

2005

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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

American journal of human genetics, 2019-02, Vol.104 (2), p.246-259

2019

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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

American journal of human genetics, 2019-04, Vol.104 (4), p.777-777

2019

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Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy

European journal of pediatrics, 2005-11, Vol.164 (11), p.655-659

2005

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Marfan syndrome: clinical diagnosis and management

European journal of human genetics : EJHG, 2007-07, Vol.15 (7), p.724-733

DEAN, John C. S

2007

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Management of Marfan syndrome

Heart (British Cardiac Society), 2002-07, Vol.88 (1), p.97-103

Dean, John C S

2002

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Pfeiffer type cardiocranial syndrome and van Nesselrooij syndrome-variable manifestations of a single disorder?

American journal of medical genetics, 2005-01, Vol.132A (2), p.209-209

2005

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Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

Human genetics, 2002-10, Vol.111 (4-5), p.421-427

2002

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Ophthalmic findings in fetal anticonvulsant syndrome(s)

Ophthalmology (Rochester, Minn.), 2002-05, Vol.109 (5), p.942-947

2002

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COTS-Based Software Systems: First International Conference, ICCBSS 2002, Orlando, FL, USA, February 4-6, 2002, Proceedings

1, 2002

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A True Hermaphrodite Chimera Resulting from Embryo Amalgamation after in Vitro Fertilization

The New England journal of medicine, 1998-01, Vol.338 (3), p.166-169

1998

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Genetic registers in clinical practice: a survey of UK clinical geneticists

Journal of medical genetics, 2000-08, Vol.37 (8), p.636-636

2000

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Marfan Syndrome and Related Disorders

Cardiovascular Genetics and Genomics, 2018, p.589-615

2018

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A Schinzel-Giedion-like syndrome--a milder version or a separate condition?

Clinical dysmorphology, 2002-10, Vol.11 (4), p.271-275

2002

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

American journal of medical genetics, 1995-07, Vol.57 (4), p.581-586

1995

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Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2‐year‐old girl with familial adenomatous polyposis

Cancer, 1996-03, Vol.77 (5), p.972-976

1996

Volltextzugriff (PDF)

Antenatal screening for carriers of cystic fibrosis: randomised trial of stepwise v couple screening

BMJ (Online), 1995-02, Vol.310 (6976), p.353

1995

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Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression

Clinical genetics, 1993-12, Vol.44 (6), p.287-291

1993

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ISOLATED HYPOGONADOTROPHIC HYPOGONADISM: A FAMILY WITH AUTOSOMAL DOMINANT INHERITANCE

Clinical endocrinology (Oxford), 1990-03, Vol.32 (3), p.341-348

1990

Volltextzugriff (PDF)

Pfeiffer type cardiocranial syndrome and van Nesselrooij syndrome--variable manifestations of a single disorder?

American journal of medical genetics. Part A, 2005, Vol.132A (2), p.209-209

2005

Volltextzugriff (PDF)

Screening for carriers of cystic fibrosis

BMJ (Online), 1991-01, Vol.302 (6767), p.53

1991

Volltextzugriff (PDF)

Genetic prediction of adult onset disease

BMJ (Online), 1994-02, Vol.308 (6927), p.535

1994

Volltextzugriff (PDF)

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

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

Marfan syndrome: clinical diagnosis and management

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy

Marfan syndrome: clinical diagnosis and management

Management of Marfan syndrome

Pfeiffer type cardiocranial syndrome and van Nesselrooij syndrome-variable manifestations of a single disorder?

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

Ophthalmic findings in fetal anticonvulsant syndrome(s)

COTS-Based Software Systems: First International Conference, ICCBSS 2002, Orlando, FL, USA, February 4-6, 2002, Proceedings

A True Hermaphrodite Chimera Resulting from Embryo Amalgamation after in Vitro Fertilization

Genetic registers in clinical practice: a survey of UK clinical geneticists

Marfan Syndrome and Related Disorders

A Schinzel-Giedion-like syndrome--a milder version or a separate condition?

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

Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2‐year‐old girl with familial adenomatous polyposis

Antenatal screening for carriers of cystic fibrosis: randomised trial of stepwise v couple screening

Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression

ISOLATED HYPOGONADOTROPHIC HYPOGONADISM: A FAMILY WITH AUTOSOMAL DOMINANT INHERITANCE

Pfeiffer type cardiocranial syndrome and van Nesselrooij syndrome--variable manifestations of a single disorder?

Screening for carriers of cystic fibrosis

Genetic prediction of adult onset disease

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