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Multiple mantleomas: an unusual clinical presentation of an intriguing tumour

British journal of dermatology (1951), 2014-08, Vol.171 (2), p.417-418

2014

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Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders

Clinical genetics, 2014-04, Vol.85 (4), p.365-370

2014

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Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder

Neuropediatrics, 2018-04, Vol.49 (2), p.150-153

2018

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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

Human genomics, 2016-06, Vol.10 (1), p.24-24, Article 24

2016

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Detection of TPSAB1 copy number variation for the diagnosis of hereditary alpha-tryptasemia by quantitative PCR

Clinical and experimental allergy, 2024-01, Vol.54 (1), p.82-85

2024

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Genetic heterogeneity in schizophrenia : stratification of genome scan data using co-segregating related phenotypes

Molecular psychiatry, 2000-11, Vol.5 (6), p.650-653

2000

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Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: Schizophrenia linkage collaborative group III

American journal of human genetics, 2000-09, Vol.67 (3), p.652-663

2000

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Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

European journal of human genetics : EJHG, 2000-02, Vol.8 (2), p.109-118

2000

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Loss of LKB1 Kinase Activity in Peutz-Jeghers Syndrome, and Evidence for Allelic and Locus Heterogeneity

American journal of human genetics, 1998-12, Vol.63 (6), p.1641-1650

1998

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Schizophrenia: A genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes

American journal of medical genetics, 1995-06, Vol.60 (3), p.252-260

1995

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The Phenotypic Spectrum of GLI3 Morphopathies Includes Autosomal Dominant Preaxial Polydactyly Type-IV and Postaxial Polydactyly Type-A/B; No Phenotype Prediction from the Position of GLI3 Mutations

American journal of human genetics, 1999-09, Vol.65 (3), p.645-655

1999

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Peutz-Jeghers Syndrome: Confirmation of Linkage to Chromosome 19p13.3 and Identification of a Potential Second Locus, on 19q13.4

American journal of human genetics, 1997-12, Vol.61 (6), p.1327-1334

1997

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Pre‐eclampsia and peripartum cardiomyopathy in molar pregnancy: clinical implication for maternally imprinted genes

Ultrasound in obstetrics & gynecology, 2004-04, Vol.23 (4), p.398-401

2004

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Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice

Journal of medical genetics, 2011-08, Vol.48 (8), p.572-576

2011

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An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree

European journal of human genetics : EJHG, 2001-01, Vol.9 (1), p.39-44

2001

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Effect of μ-opioid receptor A118G polymorphism on the ED50 of epidural sufentanil for labor analgesia

International journal of obstetric anesthesia, 2012-01, Vol.21 (1), p.40-44

2012

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The incentives for tax planning

Journal of accounting & economics, 2012-02, Vol.53 (1-2), p.391-411

2012

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Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia

Journal of medical genetics, 2009-04, Vol.46 (4), p.281-286

2009

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Critical Role of the D21S55 Region on Chromosome 21 in the Pathogenesis of Down Syndrome

Proceedings of the National Academy of Sciences - PNAS, 1989-08, Vol.86 (15), p.5958-5962

1989

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A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure

Human reproduction (Oxford), 2003-10, Vol.18 (10), p.2058-2066

2003

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The Locus for Combined Factor V-Factor VIII Deficiency (F5F8D) Maps to 18q21, between D18S849 and D18S1103

American journal of human genetics, 1997-07, Vol.61 (1), p.143-150

1997

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Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis

American journal of human genetics, 1994-03, Vol.54 (3), p.473-481

1994

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Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14

American journal of human genetics, 1993-06, Vol.52 (6), p.1145-1152

1993

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No evidence for linkage between schizophrenia and markers at chromosome 15q13-14

American journal of medical genetics, 1999-04, Vol.88 (2), p.109-112

1999

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Multiple mantleomas: an unusual clinical presentation of an intriguing tumour

Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

Detection of TPSAB1 copy number variation for the diagnosis of hereditary alpha-tryptasemia by quantitative PCR

Genetic heterogeneity in schizophrenia : stratification of genome scan data using co-segregating related phenotypes

Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: Schizophrenia linkage collaborative group III

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

Loss of LKB1 Kinase Activity in Peutz-Jeghers Syndrome, and Evidence for Allelic and Locus Heterogeneity

Schizophrenia: A genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes

The Phenotypic Spectrum of GLI3 Morphopathies Includes Autosomal Dominant Preaxial Polydactyly Type-IV and Postaxial Polydactyly Type-A/B; No Phenotype Prediction from the Position of GLI3 Mutations

Peutz-Jeghers Syndrome: Confirmation of Linkage to Chromosome 19p13.3 and Identification of a Potential Second Locus, on 19q13.4

Pre‐eclampsia and peripartum cardiomyopathy in molar pregnancy: clinical implication for maternally imprinted genes

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice

An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree

Effect of μ-opioid receptor A118G polymorphism on the ED50 of epidural sufentanil for labor analgesia

The incentives for tax planning

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia

Critical Role of the D21S55 Region on Chromosome 21 in the Pathogenesis of Down Syndrome

Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21

A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure

The Locus for Combined Factor V-Factor VIII Deficiency (F5F8D) Maps to 18q21, between D18S849 and D18S1103

Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis

Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14

No evidence for linkage between schizophrenia and markers at chromosome 15q13-14

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