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Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Nature genetics, 2008-06, Vol.40 (6), p.719-721

2008

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Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

European journal of human genetics : EJHG, , Vol.17 (12), p.1527-1539

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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

European journal of human genetics : EJHG, 2012-07, Vol.20 (7), p.754-761

2012

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HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia

European journal of human genetics : EJHG, 2011-05, Vol.19 (5), p.561-566

2011

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Syndactyly: phenotypes, genetics and current classification

European journal of human genetics : EJHG, 2012-02, Vol.20 (8), p.817-824

MALIK, Sajid

2012

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Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities

European journal of human genetics : EJHG, 2011-04, Vol.19 (S1), p.S6-S44

2011

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Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective

European journal of human genetics : EJHG, 2012-03, Vol.20 (11), p.1127-1133

2012

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Genetic testing in asymptomatic minors Background considerations towards ESHG Recommendations

European journal of human genetics : EJHG, 2009-06, Vol.17 (6), p.711-719

2009

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Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes

European journal of human genetics : EJHG, 2010-12, Vol.18 (12), p.1271-1273

2010

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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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Twenty-year trends in prevalence and survival of Down syndrome

European journal of human genetics : EJHG, , Vol.16 (11), p.1336-1340

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A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

European journal of human genetics : EJHG, 2009-12, Vol.17 (12), p.1592-1599

2009

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14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements

European journal of human genetics : EJHG, 2012-06, Vol.20 (12), p.1216-1223

2012

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The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

European journal of human genetics : EJHG, 2011-05, Vol.19 (5), p.534-539

2011

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Meta-analysis of 20 genome-wide linkage studies evidenced new regions linked to asthma and atopy

European journal of human genetics : EJHG, 2010-06, Vol.18 (6), p.700-706

2010

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Nicotinic α5 receptor subunit mRNA expression is associated with distant 5' upstream polymorphisms

European journal of human genetics : EJHG, 2011-01, Vol.19 (1), p.76-83

2011

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Enhancer elements upstream of the SHOX gene are active in the developing limb

European journal of human genetics : EJHG, 2010-05, Vol.18 (5), p.527-532

2010

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A genome-wide scan for naevus count: linkage to CDKN2A and to other chromosome regions

European journal of human genetics : EJHG, 2007-01, Vol.15 (1), p.94-102

2007

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ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome

European journal of human genetics : EJHG, 2012-03, Vol.20 (3), p.291-297

2012

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The USH2A c.2299delG mutation: dating its common origin in a Southern European population

European journal of human genetics : EJHG, 2010-07, Vol.18 (7), p.788-793

2010

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IGF2 H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia

European journal of human genetics : EJHG, 2008-03, Vol.16 (3), p.328-334

2008

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Neonatal I progeria: increased ratio of progerin to lamin A leads to progeria of the newborn

European journal of human genetics : EJHG, 2012, Vol.20 (9), p.933-937

2012

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Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 20

European journal of human genetics : EJHG, 2012, Vol.20 (9), p.945-952

2012

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Spontaneous disclosure of BRCA112 genetic test results to employers: a French prospective study

European journal of human genetics : EJHG, 2012, Vol.20 (9), p.981-983

2012

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Low prevalence of lactase persistence in Neolithic South-West Europe: This article has been corrected since Advance Online Publication and a corrigendum is also printed in this issue

European journal of human genetics : EJHG, 2012, Vol.20 (7), p.778-782

2012

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Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia

Syndactyly: phenotypes, genetics and current classification

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities

Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective

Genetic testing in asymptomatic minors Background considerations towards ESHG Recommendations

Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes

Marfan syndrome: clinical diagnosis and management

Twenty-year trends in prevalence and survival of Down syndrome

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

Meta-analysis of 20 genome-wide linkage studies evidenced new regions linked to asthma and atopy

Nicotinic α5 receptor subunit mRNA expression is associated with distant 5' upstream polymorphisms

Enhancer elements upstream of the SHOX gene are active in the developing limb

A genome-wide scan for naevus count: linkage to CDKN2A and to other chromosome regions

ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome

The USH2A c.2299delG mutation: dating its common origin in a Southern European population

IGF2 H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia

Neonatal I progeria: increased ratio of progerin to lamin A leads to progeria of the newborn

Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 20

Spontaneous disclosure of BRCA112 genetic test results to employers: a French prospective study

Low prevalence of lactase persistence in Neolithic South-West Europe: This article has been corrected since Advance Online Publication and a corrigendum is also printed in this issue

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