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Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia

American journal of human genetics, 2015-10, Vol.97 (4), p.521-534

2015

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Compound heterozygous mutations of the TNXB gene cause primary myopathy. Response

Neuromuscular disorders : NMD, 2014-01, Vol.24 (1), p.89-89

2014

Volltextzugriff (PDF)

Musculo-contractural Ehlers-Danlos syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

Human mutation, 2010-10, Vol.31 (11)

2010

Volltextzugriff (PDF)

Massive parallel amplicon sequencing of the breast cancer genes BRCA1&2 : opportunities, challenges and limitations

Human mutation, 2011-02, Vol.32 (3)

2011

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Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome

Human molecular genetics, 1995-04, Vol.4 (4), p.607-613

1995

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Acrogeria of the gottron type in a mother and son

EJD. European journal of dermatology, 2000, Vol.10 (1), p.36-40

2000

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Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent

Human mutation, 1997, Vol.9 (2), p.148-156

1997

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Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome

The American journal of pathology, 1995-06, Vol.146 (6), p.1414-1421

1995

Volltextzugriff (PDF)

Two new recurrent nucleotide mutations in theCOL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent

Human mutation, 1997, Vol.9 (2), p.148-156

1997

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Fibrillin immunofluorescence in pseudoxanthoma elasticum

Journal of the American Academy of Dermatology, 1995-04, Vol.32 (4), p.589-594

1995

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Éditorial [Nouveaux champs de la recherche archéologique]

Archeopages, 2012-01 (Hors-série 3), p.3

2012

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Editorial [New fields of archaeological research]

Archeopages, 2012-01 (Hors-série 3), p.3

2012

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Editorial [New fields of archaeological research]

INRAP - Institut national de recherches archéologiques préventives, 2012, p.3

2012

Volltextzugriff (PDF)

Editorial [Nuevos campos de la investigación arqueológica]

INRAP - Institut national de recherches archéologiques préventives, 2012, p.3

2012

Volltextzugriff (PDF)

Éditorial [Nouveaux champs de la recherche archéologique]

INRAP - Institut national de recherches archéologiques préventives, 2012, p.3

2012

Volltextzugriff (PDF)

Editorial [Nuevos campos de la investigación arqueológica]

Archeopages, 2012-01 (Hors-série 3), p.3

2012

Volltextzugriff (PDF)

Is there a difference in childhood T-cell acute lymphoblastic leukaemia and T-cell lymphoblastic lymphoma?

Leukemia & lymphoma, 2007-09, Vol.48 (9), p.1745-1754

2007

Volltextzugriff (PDF)

Histological features and treatment approach of trichoblastic carcinomas: from a case report to a review of the literature

Tumori, 2012-03, Vol.98 (2), p.46e-49e

2012

Volltextzugriff (PDF)

Histological Features and Treatment Approach of Trichoblastic Carcinomas: From a Case Report to a Review of the Literature

Tumori, 2012-03, Vol.98 (2), p.46-49

2012

Volltextzugriff (PDF)

Paléoenvironnements pléistocènes et peuplements paléolithiques dans le bassin de la Somme (nord de la France)

Bulletin de la Société préhistorique française, 2003-01, Vol.100 (1), p.5-28

2003

Volltextzugriff (PDF)

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II

American journal of human genetics, 1997-03, Vol.60 (3), p.547-554

1997

Volltextzugriff (PDF)

Violences juvéniles sous expertise(s) / Expertise and Juvenile Violence

Aurore François, Veerle Massin, David Niget (dir.)

2011

Volltextzugriff (PDF)

The Ehlers-Danlos syndrome: a heritable collagen disorder as cause of bleeding

Thrombosis and haemostasis, 1996-03, Vol.75 (3), p.379

de Paepe, A

1996

Volltextzugriff (PDF)

Classification of pseudoxanthoma elasticum: Report of a consensus conference

Journal of the American Academy of Dermatology, 1994, Vol.30 (1), p.103-107

1994

Volltextzugriff (PDF)

Occupations du Paléolithique supérieur dans le sud-est du Bassin parisien

1999

Volltextzugriff (PDF)

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Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia

Compound heterozygous mutations of the TNXB gene cause primary myopathy. Response

Musculo-contractural Ehlers-Danlos syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

Massive parallel amplicon sequencing of the breast cancer genes BRCA1&2 : opportunities, challenges and limitations

Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome

Acrogeria of the gottron type in a mother and son

Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent

Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome

Two new recurrent nucleotide mutations in theCOL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent

Fibrillin immunofluorescence in pseudoxanthoma elasticum

Éditorial [Nouveaux champs de la recherche archéologique]

Editorial [New fields of archaeological research]

Editorial [New fields of archaeological research]

Editorial [Nuevos campos de la investigación arqueológica]

Éditorial [Nouveaux champs de la recherche archéologique]

Editorial [Nuevos campos de la investigación arqueológica]

Is there a difference in childhood T-cell acute lymphoblastic leukaemia and T-cell lymphoblastic lymphoma?

Histological features and treatment approach of trichoblastic carcinomas: from a case report to a review of the literature

Histological Features and Treatment Approach of Trichoblastic Carcinomas: From a Case Report to a Review of the Literature

Paléoenvironnements pléistocènes et peuplements paléolithiques dans le bassin de la Somme (nord de la France)

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II

Violences juvéniles sous expertise(s) / Expertise and Juvenile Violence

The Ehlers-Danlos syndrome: a heritable collagen disorder as cause of bleeding

Classification of pseudoxanthoma elasticum: Report of a consensus conference

Occupations du Paléolithique supérieur dans le sud-est du Bassin parisien

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