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Keloids in Rubinstein-Taybi syndrome: a clinical study

British journal of dermatology (1951), 2014-09, Vol.171 (3), p.615-621

2014

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Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience

Journal of medical genetics, 2006-07, Vol.43 (7), p.568-575

2006

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Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

Journal of medical genetics, 2010-10, Vol.47 (10), p.704-709

2010

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CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

Human molecular genetics, 2015-02, Vol.24 (4), p.987-993

2015

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Natural history of cardiovascular manifestations in Marfan syndrome

Archives of disease in childhood, 2001-02, Vol.84 (2), p.129-137

2001

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Frequent intragenic rearrangements of DPYD in colorectal tumours

The pharmacogenomics journal, 2015-06, Vol.15 (3), p.211-218

2015

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Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism

Journal of intellectual disability research, 2011-10, Vol.55 (10), p.973-987

2011

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Unilateral condylar hyperplasia in hemifacial hyperplasia, is there genetic proof of overgrowth?

International journal of oral and maxillofacial surgery, 2020-11, Vol.49 (11), p.1464-1469

2020

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Survival and complication free survival in Marfan’s syndrome: implications of current guidelines

Heart (British Cardiac Society), 1999-10, Vol.82 (4), p.499-504

1999

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Molecular basis of unilateral condylar hyperplasia?

International journal of oral and maxillofacial surgery, 2020-11, Vol.49 (11), p.1397-1401

2020

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Development and validation of a severity scoring system for Zellweger spectrum disorders

Clinical genetics, 2018-03, Vol.93 (3), p.613-621

2018

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Phenotype and genotype in 17 patients with Goltz–Gorlin syndrome

Journal of medical genetics, 2009-10, Vol.46 (10), p.716-720

2009

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A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies

Human molecular genetics, 1999-09, Vol.8 (9), p.1785-1789

1999

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Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome

Journal of intellectual disability research, 2009-04, Vol.53 (4), p.319-328

2009

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Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

Journal of medical genetics, 2010-01, Vol.47 (1), p.30-37

2010

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Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

Journal of medical genetics, 2004-06, Vol.41 (6), p.433-439

2004

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Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome

Clinical genetics, 2013-01, Vol.83 (1), p.73-77

2013

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Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

British journal of haematology, 1999-11, Vol.107 (2), p.335-339

1999

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Genetic syndromes and prenatally detected renal anomalies

Seminars in fetal & neonatal medicine, 2008-06, Vol.13 (3), p.171-180

2008

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Type III collagen deficiency in saccular intracranial aneurysms: Defect in gene regulation?

Stroke (1970), 1999-08, Vol.30 (8), p.1628-1631

1999

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Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

Journal of medical genetics, 2006-03, Vol.43 (3), p.238-243

2006

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A Microdeletion at 12q24.31 Can Mimic Beckwith-Wiedemann Syndrome Neonatally

Molecular syndromology, 2010-02, Vol.1 (1), p.42-45

2010

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Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes

Journal of medical genetics, 2003-12, Vol.40 (12), p.937-941

2003

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Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients

Human genetics, 2002-06, Vol.110 (6), p.561-567

2002

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Congenital brain anomalies in distal cholesterol biosynthesis defects

Journal of inherited metabolic disease, 2005-01, Vol.28 (3), p.385-392

Hennekam, R. C. M.

2005

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Keloids in Rubinstein-Taybi syndrome: a clinical study

Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome

Natural history of cardiovascular manifestations in Marfan syndrome

Frequent intragenic rearrangements of DPYD in colorectal tumours

Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism

Unilateral condylar hyperplasia in hemifacial hyperplasia, is there genetic proof of overgrowth?

Survival and complication free survival in Marfan’s syndrome: implications of current guidelines

Molecular basis of unilateral condylar hyperplasia?

Development and validation of a severity scoring system for Zellweger spectrum disorders

Phenotype and genotype in 17 patients with Goltz–Gorlin syndrome

A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies

Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

Genetic syndromes and prenatally detected renal anomalies

Type III collagen deficiency in saccular intracranial aneurysms: Defect in gene regulation?

Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

A Microdeletion at 12q24.31 Can Mimic Beckwith-Wiedemann Syndrome Neonatally

Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes

Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients

Congenital brain anomalies in distal cholesterol biosynthesis defects

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