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Natural roller bearing fault detection by angular measurement of true instantaneous angular speed

Mechanical systems and signal processing, 2010-10, Vol.24 (7), p.1998-2011

2010

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On the origin and development of glioblastoma: multifaceted role of perivascular mesenchymal stromal cells

Acta neuropathologica communications, 2023-06, Vol.11 (1), p.104-104, Article 104

2023

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Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause

Clinical genetics, 2014-09, Vol.86 (3), p.246-251

2014

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Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

Clinical genetics, 2009-10, Vol.76 (4), p.357-371

2009

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Binding of GGA2 to the Lysosomal Enzyme Sorting Motif of the Mannose 6-Phosphate Receptor

Science (American Association for the Advancement of Science), 2001-06, Vol.292 (5522), p.1716-1718

2001

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Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy

Clinical genetics, 2016-01, Vol.89 (1), p.68-73

2016

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Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

Clinical genetics, 2011-08, Vol.80 (2), p.177-183

2011

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Circulating cell‐free fetal DNA in maternal serum appears to originate from cyto‐ and syncytio‐trophoblastic cells. Case report

Human reproduction (Oxford), 2004-03, Vol.19 (3), p.723-724

2004

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Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases

Prenatal diagnosis, 2013-03, Vol.33 (3), p.238-241

2013

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Gamma subunit of the AP-1 adaptor complex binds clathrin: implications for cooperative binding in coated vesicle assembly

Molecular biology of the cell, 2001-07, Vol.12 (7), p.1925-1935

2001

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Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder

Dermatology (Basel), 2013-09, Vol.226 (4), p.353-357

2013

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Valproic Acid Monotherapy in Pregnancy and Major Congenital Malformations

The New England journal of medicine, 2010-06, Vol.362 (23), p.2185-2193

2010

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Revue systématique des thérapeutiques psychomotrices validées pour les enfants présentant un trouble du spectre de l’alcoolisation fœtale

Neuropsychiatrie de l'enfance et de l'adolescence, 2024-05, Vol.72 (3), p.135-143

2024

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Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease

Human molecular genetics, 1998-09, Vol.7 (9), p.1449-1452

1998

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Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2012-10, Vol.19 (10), p.1021-1029

2012

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A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly

Ophthalmic genetics, 2010-12, Vol.31 (4), p.205-208

2010

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Cooperation of GGAs and AP-1 in Packaging MPRs at the Trans-Golgi Network

Science (American Association for the Advancement of Science), 2002-09, Vol.297 (5587), p.1700-1703

2002

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Épidémiologie des fentes labio-palatines : expérience du Registre de malformations congénitales d’Alsace entre 1995 et 2006

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2012-10, Vol.19 (10), p.1021-1029

2012

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Oncogénétique : un levier dans la prise en charge des cancers du sein à La Réunion

Gynécologie, obstétrique, fertilité & sénologie, 2024-05, Vol.52 (5), p.356-357

2024

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Comparison of polymerase chain reaction assay with culture for detection of genital mycoplasmas in perinatal infections

European journal of clinical microbiology & infectious diseases, 1998-04, Vol.17 (4), p.255-263

1998

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Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations

European journal of human genetics : EJHG, 2020, Vol.28 (SUPPL 1, 1)

2020

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Delineation of 15q13.3 microdeletions

Clinical genetics, 2010-08, Vol.78 (2), p.149-161

2010

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Faisabilité de la surveillance du syndrome d’alcoolisation fœtale (SAF)

Archives de pédiatrie (Paris), 2008-06, Vol.15 (5), p.507-509

2008

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P.286 - Further insights in nemaline myopathy (NM) with hyaline masses

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S183-S184

2017

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Natural roller bearing fault detection by angular measurement of true instantaneous angular speed

On the origin and development of glioblastoma: multifaceted role of perivascular mesenchymal stromal cells

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

Binding of GGA2 to the Lysosomal Enzyme Sorting Motif of the Mannose 6-Phosphate Receptor

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

Circulating cell‐free fetal DNA in maternal serum appears to originate from cyto‐ and syncytio‐trophoblastic cells. Case report

Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases

Gamma subunit of the AP-1 adaptor complex binds clathrin: implications for cooperative binding in coated vesicle assembly

Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder

Valproic Acid Monotherapy in Pregnancy and Major Congenital Malformations

Revue systématique des thérapeutiques psychomotrices validées pour les enfants présentant un trouble du spectre de l’alcoolisation fœtale

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease

Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients

A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly

Cooperation of GGAs and AP-1 in Packaging MPRs at the Trans-Golgi Network

Épidémiologie des fentes labio-palatines : expérience du Registre de malformations congénitales d’Alsace entre 1995 et 2006

Oncogénétique : un levier dans la prise en charge des cancers du sein à La Réunion

Comparison of polymerase chain reaction assay with culture for detection of genital mycoplasmas in perinatal infections

Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations

Delineation of 15q13.3 microdeletions

Faisabilité de la surveillance du syndrome d’alcoolisation fœtale (SAF)

P.286 - Further insights in nemaline myopathy (NM) with hyaline masses

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