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End‐to‐end image analysis pipeline for liquid‐phase electron microscopy

Journal of microscopy (Oxford), 2020-09, Vol.279 (3), p.242-248

2020

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A six-attribute classification of genetic mosaicism

Genetics in medicine, 2020-11, Vol.22 (11), p.1743-1757

2020

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Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia

American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.601-610

2017

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The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders

American journal of medical genetics. Part C, Seminars in medical genetics, 2021-06, Vol.187 (2), p.186-191

2021

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A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.100-107

2023

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MRX93 syndrome (BRWD3 gene): five new patients with novel mutations

Clinical genetics, 2019-06, Vol.95 (6), p.726-731

2019

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Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults

European journal of internal medicine, 2016-04, Vol.29, p.40-45

2016

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A six-attribute classification of geneticmosaicism

Genetics in medicine, 2020-11, Vol.22 (11), p.1743-1757

2020

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Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Human mutation, 2012-02, Vol.33 (2), p.343-350

2012

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mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review

Clinical genetics, 2018-04, Vol.93 (4), p.762-775

2018

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A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

Nature genetics, 2003-04, Vol.33 (4), p.497-501

2003

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Non‐immune hydrops fetalis is associated with bi‐allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene

Clinical genetics, 2024-12, Vol.106 (6), p.713-720

2024

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High-throughput screening platform for natural product-based drug discovery against 3 neglected tropical diseases: human African trypanosomiasis, leishmaniasis, and Chagas disease

Journal of biomolecular screening, 2015-01, Vol.20 (1), p.82-91

2015

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Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

American journal of medical genetics. Part C, Seminars in medical genetics, 2009-11, Vol.151C (4), p.341-351

2009

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Volumetric measurement of the hippocampus in a series of patients with Alzheimer disease

Neurology perspectives, 2021-07, Vol.1 (3), p.149-159

2021

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Climate change in forest ecosystems: A field experiment addressing the effects of raising temperature and reduced rainfall on early life cycle stages of oaks

Acta oecologica (Montrouge), 2018-10, Vol.92, p.35-43

2018

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Isthmectomy: A Conservative Operation for Solitary Nodule of the Thyroid Isthmus

Acta chirurgica belgica, 2008-11, Vol.108 (6), p.699-701

2008

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Characterization of uracil-DNA glycosylase activity from Trypanosoma cruzi and its stimulation by AP endonuclease

Nucleic acids research, 2001-04, Vol.29 (7), p.1549-1555

2001

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EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO

Frontiers in cell and developmental biology, 2023-07, Vol.11, p.1190258-1190258

2023

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3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease

Bone Research, 2021-08, Vol.9 (1), p.39-39, Article 39

2021

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Mechanical Actuation by Responsive Polyelectrolyte Brushes and Triblock Gels

Journal of macromolecular science. Physics, 2005-11, Vol.44 (6), p.1103-1121

2005

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End‐to‐end image analysis pipeline for liquid‐phase electron microscopy

A six-attribute classification of genetic mosaicism

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia

The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders

A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations

A New Overgrowth Syndrome is due to Mutations in RNF125

Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults

A six-attribute classification of geneticmosaicism

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

Non‐immune hydrops fetalis is associated with bi‐allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene

High-throughput screening platform for natural product-based drug discovery against 3 neglected tropical diseases: human African trypanosomiasis, leishmaniasis, and Chagas disease

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

Volumetric measurement of the hippocampus in a series of patients with Alzheimer disease

Climate change in forest ecosystems: A field experiment addressing the effects of raising temperature and reduced rainfall on early life cycle stages of oaks

Isthmectomy: A Conservative Operation for Solitary Nodule of the Thyroid Isthmus

Characterization of uracil-DNA glycosylase activity from Trypanosoma cruzi and its stimulation by AP endonuclease

EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO

3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease

Mechanical Actuation by Responsive Polyelectrolyte Brushes and Triblock Gels

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