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Onboard catalogue of known X-ray sources for SVOM/ECLAIRs

Astronomy and astrophysics (Berlin), 2021-01, Vol.645, p.A18

2021

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The SVOM/ECLAIRs image trigger with wavelet-based background correction optimised with a one-year simulation of observations

Astronomy and astrophysics (Berlin), 2022-09, Vol.665, p.A40

2022

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Detection of short high-energy transients in the local universe with SVOM/ECLAIRs

Astrophysics and space science, 2020-12, Vol.365 (12), Article 185

2020

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In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

Journal of medical genetics, 2003-01, Vol.40 (1), p.34-36

2003

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Mutations in Cytokine Receptor-Like Factor 1 ( CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes

American journal of human genetics, 2007-05, Vol.80 (5), p.966-970

2007

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Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity

Clinical genetics, 2010-03, Vol.77 (3), p.266-272

2010

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Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD

Journal of medical genetics, 2004-05, Vol.41 (5), p.366-372

2004

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ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

American journal of human genetics, 2004-11, Vol.75 (5), p.801-806

2004

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A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34

Human genetics, 2007-04, Vol.121 (2), p.269-273

2007

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SHOX point mutations in dyschondrosteosis

Journal of medical genetics, 2001-05, Vol.38 (5), p.323-323

2001

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Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

Journal of medical genetics, 2011-02, Vol.48 (2), p.88-92

2011

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Null Leukemia Inhibitory Factor Receptor ( LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

American journal of human genetics, 2004-02, Vol.74 (2), p.298-305

2004

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Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

Journal of medical genetics, 2002-10, Vol.39 (10), p.714-717

2002

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LIFR (leukemia inhibitory factor receptor alpha)

Atlas of genetics and cytogenetics in oncology and haematology, 2011-11 (10)

2011

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Genetic homogeneity of the Camurati-Engelmann disease

Clinical genetics, 2000-08, Vol.58 (2), p.150-152

2000

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A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31

American journal of human genetics, 2000-10, Vol.67 (4), p.991-993

2000

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Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve–Melchior–Clausen syndrome

Human molecular genetics, 2003-02, Vol.12 (3), p.357-364

2003

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Stueve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity

Clinical genetics, 2010-03, Vol.77 (3), p.266-272

2010

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Clinical and genetic heterogeneity of Seckel syndrome

American journal of medical genetics, 2002-11, Vol.112 (4), p.379-383

2002

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Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stueve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

American journal of human genetics, 2004-02, Vol.74 (2), p.298-305

2004

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Role of residues 104, 164, 166, 238 and 240 in the substrate profile of PER-1 beta-lactamase hydrolysing third-generation cephalosporins

Biochemical journal, 1998-03, Vol.330 ( Pt 3) (3), p.1443-1449

1998

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Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome

American journal of medical genetics, 2000-11, Vol.95 (3), p.233-236

2000

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A Short Synthesis of γ-Amino Acids from Nitrones; Synthesis of Vigabatrin

Synthesis (Stuttgart), 2001, Vol.2001 (1), p.0150-0154

2001

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Synthesis of Z-α,β-Ethylenic N-Boc-γ-Amino Esters from Nitrones

Synlett, 1999-05, Vol.1999 (5), p.602-604

1999

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(2S R ,3S R ,4 RS )- tert -Butyl 2,3-dihydroxy 4-( tert -butoxycarbonyl)aminohexanoate

Acta crystallographica. Section E, Structure reports online, 2004-04, Vol.60 (4), p.o510-o512

2004

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Onboard catalogue of known X-ray sources for SVOM/ECLAIRs

The SVOM/ECLAIRs image trigger with wavelet-based background correction optimised with a one-year simulation of observations

Detection of short high-energy transients in the local universe with SVOM/ECLAIRs

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

Mutations in Cytokine Receptor-Like Factor 1 ( CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes

Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity

Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD

ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34

SHOX point mutations in dyschondrosteosis

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

Null Leukemia Inhibitory Factor Receptor ( LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

LIFR (leukemia inhibitory factor receptor alpha)

Genetic homogeneity of the Camurati-Engelmann disease

A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve–Melchior–Clausen syndrome

Stueve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity

Clinical and genetic heterogeneity of Seckel syndrome

Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stueve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

Role of residues 104, 164, 166, 238 and 240 in the substrate profile of PER-1 beta-lactamase hydrolysing third-generation cephalosporins

Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome

A Short Synthesis of γ-Amino Acids from Nitrones; Synthesis of Vigabatrin

Synthesis of Z-α,β-Ethylenic N-Boc-γ-Amino Esters from Nitrones

(2S R ,3S R ,4 RS )- tert -Butyl 2,3-dihydroxy 4-( tert -butoxycarbonyl)aminohexanoate

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