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Superfluid Helium cooling and compact Heat Exchanger for HL-LHC D2 Recombination Dipoles

IOP conference series. Materials Science and Engineering, 2019-01, Vol.502 (1), p.12114

2019

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Assessment of the operation safety margin of the HL-LHC superconducting recombination Dipole D2 in case of helium filling failure

IOP conference series. Materials Science and Engineering, 2022-05, Vol.1240 (1), p.12121

2022

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Cryogenic performances of a heat exchanger prototype suitable for the superconducting HL-LHC recombination dipole D2

IOP conference series. Materials Science and Engineering, 2022-05, Vol.1240 (1), p.12120

2022

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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Nature genetics, 2001-02, Vol.27 (2), p.159-166

2001

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Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations

American journal of human genetics, 2004-02, Vol.74 (2), p.326-337

2004

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Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes

Annals of neurology, 1999-02, Vol.45 (2), p.200-206

1999

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Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13

Nature genetics, 2001-08, Vol.28 (4), p.365-370

2001

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Speciation and supersaturation model in papermaking streams

Process safety and environmental protection, 2011, Vol.89 (1), p.67-73

2011

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Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

Journal of medical genetics, 1999-08, Vol.36 (8), p.599-603

1999

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Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain

American journal of human genetics, 2000-05, Vol.66 (5), p.1496-1503

2000

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Familial thoracic aortic aneurysm dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity

European journal of human genetics : EJHG, 2004-03, Vol.12 (3), p.173-180

2004

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Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a charcot- marie-tooth presentation

Journal of neurology, 2005-06, Vol.252 (6), p.655-662

2005

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Study of final height in Turner's syndrome: ethnic and genetic influences

Acta Paediatrica, 1994-03, Vol.83 (3), p.305-308

1994

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Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations

European journal of human genetics : EJHG, 2002-11, Vol.10 (11), p.733-740

2002

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Unique survival in chrondrodysplasia-hermaphrodism syndrome

American journal of medical genetics, 2005-01, Vol.132A (3), p.335-337

2005

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Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly

Prenatal diagnosis, 2001-06, Vol.21 (6), p.466-470

2001

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Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins

American journal of human genetics, 1997-05, Vol.60 (5), p.1128-1138

1997

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Coffin-Lowry syndrome: a multicenter study

Clinical genetics, 1988-10, Vol.34 (4), p.230-245

1988

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A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23

Human genetics, 1995-08, Vol.96 (2), p.213-215

1995

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Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis

Prenatal diagnosis, 2002-08, Vol.22 (8), p.710-714

2002

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Prenatal diagnosis of a partial trisomy 7q in two fetuses with bilateral ventriculomegaly

Prenatal diagnosis, 2000-11, Vol.20 (11), p.936-938

2000

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Genetic testing in asymptomatic minors: a survey among French geneticists

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2010-07, Vol.17 (7), p.1000-1007

2010

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Myotubular Myopathy in a Girl with a Deletion at Xq27-q28 and Unbalanced X Inactivation Assigns the MTMI Gene to a 600-kb Region

American journal of human genetics, 1995-05, Vol.56 (5), p.1108-1115

1995

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Increased paternal age in CHARGE association

Clinical genetics, 1996-12, Vol.50 (6), p.548-550

1996

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Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus

Human genetics, 1991-02, Vol.86 (4), p.355-358

1991

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Superfluid Helium cooling and compact Heat Exchanger for HL-LHC D2 Recombination Dipoles

Assessment of the operation safety margin of the HL-LHC superconducting recombination Dipole D2 in case of helium filling failure

Cryogenic performances of a heat exchanger prototype suitable for the superconducting HL-LHC recombination dipole D2

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations

Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13

Speciation and supersaturation model in papermaking streams

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain

Familial thoracic aortic aneurysm dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity

Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a charcot- marie-tooth presentation

Study of final height in Turner's syndrome: ethnic and genetic influences

Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations

Unique survival in chrondrodysplasia-hermaphrodism syndrome

Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly

Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins

Coffin-Lowry syndrome: a multicenter study

A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23

Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis

Prenatal diagnosis of a partial trisomy 7q in two fetuses with bilateral ventriculomegaly

Genetic testing in asymptomatic minors: a survey among French geneticists

Myotubular Myopathy in a Girl with a Deletion at Xq27-q28 and Unbalanced X Inactivation Assigns the MTMI Gene to a 600-kb Region

Increased paternal age in CHARGE association

Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus

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