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Lipid availability determines fate of skeletal progenitor cells via SOX9

Nature (London), 2020-03, Vol.579 (7797), p.111-117

2020

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The Emerging Role of DNA Methylation in Kidney Transplantation: A Perspective

American journal of transplantation, 2016-04, Vol.16 (4), p.1070-1078

2016

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Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

European heart journal, 2007-11, Vol.28 (22), p.2778-2784

2007

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Journal of medical genetics, 2006-08, Vol.43 (8), p.625-633

2006

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Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects

Cytogenetic and genome research, 2011-01, Vol.135 (3-4), p.251-259

2011

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Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

Journal of medical genetics, 2008-02, Vol.45 (2), p.71-80

2008

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Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects

Molecular syndromology, 2012, Vol.2 (2), p.81-87

2012

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Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

Human mutation, 2009-09, Vol.30 (9), p.E845-E854

2009

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The H3K9 dimethyltransferases EHMT1/2 protect against pathological cardiac hypertrophy

The Journal of clinical investigation, 2017, Vol.127 (1), p.335-348

2017

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Cell type signatures in cell-free DNA fragmentation profiles reveal disease biology

Nature communications, 2024-03, Vol.15 (1), p.2220-2220, Article 2220

2024

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Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation

Cytogenetic and genome research, 2006-11, Vol.115 (3-4), p.225-230

2006

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Single-cell chromosomal imbalances detection by array CGH

Nucleic acids research, 2006-01, Vol.34 (9), p.e68-e68

2006

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Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies

Cytogenetic and genome research, 2006-08, Vol.114 (3-4), p.338-341

2006

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Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Journal of medical genetics, 2010-03, Vol.47 (3), p.155-161

2010

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Lipid availability determines fate of skeletal progenitor cells via SOX9

Yearbook of Paediatric Endocrinology, 2020-10

2020

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25 Mb deletion of 13q13.3→q21.31 in a patient without retinoblastoma

European journal of medical genetics, 2005-07, Vol.48 (3), p.363-366

2005

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Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation

Cytogenetic and genome research, 2006-01, Vol.112 (1-2), p.225

2006

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Facial asymmetry, cardiovascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome: a microdeletion/duplication in 13q

Genetic counseling, 2006, Vol.17 (4), p.477

2006

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and m jitiple congenital anomalies : a new series of 140 patients and review of published reports

Journal of medical genetics, 2006, Vol.43 (8), p.625-633

2006

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Report of the IFCC Working Group for Standardization of Thyroid Function Tests; Part 2: Free Thyroxine and Free Triiodothyronine

Clinical chemistry (Baltimore, Md.), 2010-06, Vol.56 (6), p.912-920

2010

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Report of the IFCC Working Group for Standardization of Thyroid Function Tests; Part 1: Thyroid-Stimulating Hormone

Clinical chemistry (Baltimore, Md.), 2010-06, Vol.56 (6), p.902-911

2010

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Paleo-ecotoxicology: What Can Lake Sediments Tell Us about Ecosystem Responses to Environmental Pollutants?

Environmental science & technology, 2017-09, Vol.51 (17), p.9446-9457

2017

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Determining the effects of past gold mining using a sediment palaeotoxicity model

The Science of the total environment, 2020-05, Vol.718, p.137308-137308, Article 137308

2020

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Vitamin D status as an international issue: National surveys and the problem of standardization

Scandinavian journal of clinical & laboratory investigation. Supplement, 2012-04, Vol.72 (S243), p.32-40

2012

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Lipid availability determines fate of skeletal progenitor cells via SOX9

The Emerging Role of DNA Methylation in Kidney Transplantation: A Perspective

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects

Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

The H3K9 dimethyltransferases EHMT1/2 protect against pathological cardiac hypertrophy

Cell type signatures in cell-free DNA fragmentation profiles reveal disease biology

Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation

Single-cell chromosomal imbalances detection by array CGH

Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies

Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Lipid availability determines fate of skeletal progenitor cells via SOX9

25 Mb deletion of 13q13.3→q21.31 in a patient without retinoblastoma

Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation

Facial asymmetry, cardiovascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome: a microdeletion/duplication in 13q

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and m jitiple congenital anomalies : a new series of 140 patients and review of published reports

Inhibition of the Glycolytic Activator PFKFB3 in Endothelium Induces Tumor Vessel Normalization, Impairs Metastasis, and Improves Chemotherapy

Report of the IFCC Working Group for Standardization of Thyroid Function Tests; Part 2: Free Thyroxine and Free Triiodothyronine

Report of the IFCC Working Group for Standardization of Thyroid Function Tests; Part 1: Thyroid-Stimulating Hormone

Paleo-ecotoxicology: What Can Lake Sediments Tell Us about Ecosystem Responses to Environmental Pollutants?

Determining the effects of past gold mining using a sediment palaeotoxicity model

Vitamin D status as an international issue: National surveys and the problem of standardization

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