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Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

European journal of human genetics : EJHG, 2015-05, Vol.23 (5), p.610-615

2015

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Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

Journal of medical genetics, 2014-01, Vol.51 (1), p.61-67

2014

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Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14

Journal of medical genetics, 2010-10, Vol.47 (10), p.717-720

2010

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Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

European journal of human genetics : EJHG, 2005-09, Vol.13 (9), p.1019-1024

2005

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Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

American journal of human genetics, 2007-10, Vol.81 (4), p.713-725

2007

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Medulloblastoma as a first presentation of fanconi anemia

Journal of pediatric hematology/oncology, 2004-01, Vol.26 (1), p.52-55

2004

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Keratoconus associated with a chromosome 7, 11 translocation

Eye (London), 2001-08, Vol.15 (4), p.556-557

2001

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Drugs for epilepsy have teratogenic risks

BMJ, 1999-05, Vol.318 (7193), p.1289-1289

1999

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Geleophysic dysplasia: A report of three affected boys-prenatal ultrasound does not detect recurrence

American journal of medical genetics, 1995-09, Vol.58 (3), p.217-221

1995

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Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

European journal of human genetics : EJHG, 2017-06, Vol.25 (6), p.669-679

2017

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Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation

Journal of medical genetics, 2022-06, Vol.59 (6), p.544-548

2022

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Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

Frontiers in cellular neuroscience, 2018-11, Vol.12, p.429-429

2018

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A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion

Ophthalmic genetics, 2018-06, Vol.39 (3), p.396-398

2018

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Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1

European journal of human genetics : EJHG, 2015-12, Vol.23 (12), p.1640-1645

2015

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Genotypes at the GluR6 Kainate Receptor Locus are Associated with Variation in the Age of Onset of Huntington Disease

Proceedings of the National Academy of Sciences - PNAS, 1997-04, Vol.94 (8), p.3872-3876

1997

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Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome

American journal of human genetics, 2006-04, Vol.78 (4), p.702-707

2006

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Inherited cancer in children: practical/ethical problems and challenges

European journal of cancer (1990), 2004-11, Vol.40 (16), p.2459-2470

2004

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Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

Brain communications, 2021-01, Vol.3 (3), p.fcab162-fcab162

2021

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Challenges for future caring science research: a response to Hallberg (2006)

International journal of nursing studies, 2008-06, Vol.45 (6), p.971-974

2008

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A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion

Ophthalmic Genetics, 2018, Vol.39 (3), p.396-398

2018

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LATE ONSET HUNTINGTON'S DISEASE AS A CAUSE OF DEMENTIA: WHERE SHOULD THE CLINICIAN'S INDEX OF SUSPICION LIE?

International journal of geriatric psychiatry, 1996-08, Vol.11 (8), p.729-733

1996

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(dir.), Les discours de la haine : récits et figures de la passion dans la Cité

Deleplace, Marc

2019

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Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Medulloblastoma as a first presentation of fanconi anemia

Keratoconus associated with a chromosome 7, 11 translocation

Drugs for epilepsy have teratogenic risks

Geleophysic dysplasia: A report of three affected boys-prenatal ultrasound does not detect recurrence

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1

Genotypes at the GluR6 Kainate Receptor Locus are Associated with Variation in the Age of Onset of Huntington Disease

Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome

Inherited cancer in children: practical/ethical problems and challenges

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

Challenges for future caring science research: a response to Hallberg (2006)

A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion

LATE ONSET HUNTINGTON'S DISEASE AS A CAUSE OF DEMENTIA: WHERE SHOULD THE CLINICIAN'S INDEX OF SUSPICION LIE?

(dir.), Les discours de la haine : récits et figures de la passion dans la Cité

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