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Multiple sclerosis patients express increased levels of β-nerve growth factor in cerebrospinal fluid

Neuroscience letters, 1992-11, Vol.147 (1), p.9-12

1992

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Phenotype and genotype in Nicolaides-Baraitser syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.302-314

2014

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Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Human mutation, 2008-10, Vol.29 (10), p.1237-1246

2008

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A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features

Journal of human genetics, 2017-11, Vol.62 (11), p.1005-1006

2017

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Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson–Golabi–Behmel syndrome

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1400-1405

2017

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Phenotypes and genotypes in individuals with SMC1A variants

American journal of medical genetics. Part A, 2017-08, Vol.173 (8), p.2108-2125

2017

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Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction

Clinical genetics, 2016-05, Vol.89 (5), p.564-573

2016

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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Human genetics, 2017-03, Vol.136 (3), p.307-320

2017

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Phenotype and 244k array-CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1-qter

American journal of medical genetics. Part A, 2009-05, Vol.149A (5), p.894-905

2009

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Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation

European journal of human genetics : EJHG, 2008-01, Vol.16 (1), p.28-35

2008

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The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders

Epigenetics, 2018-08, Vol.13 (8), p.822-828

2018

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Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region

Epilepsia (Copenhagen), 2010-09, Vol.51 (9), p.1870-1873

2010

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Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

Human mutation, 2015-01, Vol.36 (1), p.26-29

2015

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A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay

Journal of human genetics, 2018-09, Vol.63 (9), p.997-1001

2018

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Identification of mutations in CUL7 in 3-M syndrome

Nature genetics, 2005-10, Vol.37 (10), p.1119-1124

2005

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Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5 -Mutation-Associated Disease: A Report of Two Cases

The Journal of pediatrics, 2017-02, Vol.181, p.306-308.e1

2017

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Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome

Clinical genetics, 2008-01, Vol.73 (1), p.62-70

2008

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Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1-gene

American journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2749-2755

2010

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Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

Human molecular genetics, 2017-03, Vol.26 (6), p.1078-1086

2017

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Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome

Human genetics, 2007-05, Vol.121 (3-4), p.369-376

2007

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Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

American journal of human genetics, 2012-02, Vol.90 (2), p.369-377

2012

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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

European journal of human genetics : EJHG, 2016-05, Vol.24 (5), p.652-659

2016

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Nicolaides-Baraitser syndrome: Delineation of the phenotype

American journal of medical genetics. Part A, 2009-08, Vol.149A (8), p.1628-1640

2009

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Multiple sclerosis patients express increased levels of β-nerve growth factor in cerebrospinal fluid

Phenotype and genotype in Nicolaides-Baraitser syndrome

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

ANKRD11 variants: KBG syndrome and beyond

A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features

Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson–Golabi–Behmel syndrome

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Phenotypes and genotypes in individuals with SMC1A variants

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1-qter

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation

The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay

Identification of mutations in CUL7 in 3-M syndrome

Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5 -Mutation-Associated Disease: A Report of Two Cases

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome

Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1-gene

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Nicolaides-Baraitser syndrome: Delineation of the phenotype

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