Observations of the Disk/Jet Coupling of MAXI J1820+070 during Its Descent to Quiescence
Shaw, A. W., Plotkin, R. M., Miller-Jones, J. C. A., Homan, J., Gallo, E., Russell, D. M., Tomsick, J. A., Kaaret, P., Corbel, S., Espinasse, M., Bright, J.
Published in The Astrophysical journal (01.01.2021)
Published in The Astrophysical journal (01.01.2021)
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Journal Article
Clues on jet behavior from simultaneous radio-X-ray fits of GX 339-4
Barnier, S., Petrucci, P.-O., Ferreira, J., Marcel, G., Belmont, R., Clavel, M., Corbel, S., Coriat, M., Espinasse, M., Henri, G., Malzac, J., Rodriguez, J.
Published in Astronomy and astrophysics (Berlin) (01.01.2022)
Published in Astronomy and astrophysics (Berlin) (01.01.2022)
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Journal Article
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause
Petit, F., Escande, F., Jourdain, A.S., Porchet, N., Amiel, J., Doray, B., Delrue, M.A., Flori, E., Kim, C.A., Marlin, S., Robertson, S.P., Manouvrier-Hanu, S., Holder-Espinasse, M.
Published in Clinical genetics (01.09.2014)
Published in Clinical genetics (01.09.2014)
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Journal Article
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia
Chassaing, N., Causse, A., Vigouroux, A., Delahaye, A., Alessandri, J.-L., Boespflug-Tanguy, O., Boute-Benejean, O., Dollfus, H., Duban-Bedu, B., Gilbert-Dussardier, B., Giuliano, F., Gonzales, M., Holder-Espinasse, M., Isidor, B., Jacquemont, M.-L., Lacombe, D., Martin-Coignard, D., Mathieu-Dramard, M., Odent, S., Picone, O., Pinson, L., Quelin, C., Sigaudy, S., Toutain, A., Thauvin-Robinet, C., Kaplan, Josseline, Calvas, Patrick
Published in Clinical genetics (01.10.2014)
Published in Clinical genetics (01.10.2014)
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Journal Article
Time-dependent visibility modelling of a relativistic jet in the X-ray binary MAXI J1803−298
Wood, C M, Miller-Jones, J C A, Bahramian, A, Tingay, S J, Russell, T D, Tetarenko, A J, Altamirano, D, Belloni, T, Carotenuto, F, Ceccobello, C, Corbel, S, Espinasse, M, Fender, R P, Körding, E, Migliari, S, Russell, D M, Sarazin, C L, Sivakoff, G R, Soria, R, Tudose, V
Published in Monthly notices of the Royal Astronomical Society (13.04.2023)
Published in Monthly notices of the Royal Astronomical Society (13.04.2023)
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Journal Article
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
Le Meur, N, Holder-Espinasse, M, Jaillard, S, Goldenberg, A, Joriot, S, Amati-Bonneau, P, Guichet, A, Barth, M, Charollais, A, Journel, H, Auvin, S, Boucher, C, Kerckaert, J-P, David, V, Manouvrier-Hanu, S, Saugier-Veber, P, Frébourg, T, Dubourg, C, Andrieux, J, Bonneau, D
Published in Journal of medical genetics (01.01.2010)
Published in Journal of medical genetics (01.01.2010)
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Journal Article
A GPHN point mutation leading to molybdenum cofactor deficiency
Reiss, J, Lenz, U, Aquaviva-Bourdain, C, Joriot-Chekaf, S, Mention-Mulliez, K, Holder-Espinasse, M
Published in Clinical genetics (01.12.2011)
Published in Clinical genetics (01.12.2011)
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Journal Article
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families
Petit, F., Jourdain, A.-S., Andrieux, J., Baujat, G., Baumann, C., Beneteau, C., David, A., Faivre, L., Gaillard, D., Gilbert-Dussardier, B., Jouk, P.-S., Le Caignec, C., Loget, P., Pasquier, L., Porchet, N., Holder-Espinasse, M., Manouvrier-Hanu, S., Escande, F.
Published in Clinical genetics (01.05.2014)
Published in Clinical genetics (01.05.2014)
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Journal Article
Vision screening for children: Recommended practices from AFSOP
Lequeux, L, Thouvenin, D, Couret, C, Audren, F, Costet, C, Dureau, P, Leruez, S, Defoordt-Dhellemmes, S, Daien, V, Espinasse Berrod, M-A, Arsene, S, Lebranchu, P, Denis, D, Bui-Quoc, E, Speeg-Schatz, C
Published in Journal francais d'ophtalmologie (01.02.2021)
Published in Journal francais d'ophtalmologie (01.02.2021)
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Journal Article
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia
Bennouna-Greene, V, Kremer, S, Stoetzel, C, Christmann, D, Schuster, C, Durand, M, Verloes, A, Sigaudy, S, Holder-Espinasse, M, Godet, J, Brandt, C, Marion, V, Danion, A, Dietemann, J-L, Dollfus, H
Published in Clinical genetics (01.12.2011)
Published in Clinical genetics (01.12.2011)
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Journal Article
The ‘tissue press’: a new device to flatten fresh tissue during ex vivo confocal microscopy examination
Cinotti, E., Grivet, D., Labeille, B., Solazzi, M., Bernard, A., Forest, F., Espinasse, M., Cambazard, F., Thuret, G., Gain, P., Perrot, J. L.
Published in Skin research and technology (01.02.2017)
Published in Skin research and technology (01.02.2017)
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Journal Article
Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome
Petit, F, Holder-Espinasse, M, Duban-Bedu, B, Bouquillon, S, Boute-Benejean, O, Bazin, A, Rouland, V, Manouvrier-Hanu, S, Delobel, B
Published in Clinical genetics (01.03.2012)
Published in Clinical genetics (01.03.2012)
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Journal Article
New management of peri‐ocular basal cell carcinoma using in vivo and ex vivo confocal microscopes
Espinasse, M., Grivet, D., Perrot, J.L., Cinotti, E., Labeille, B., Forest, F., Gain, P., Thuret, G.
Published in Acta ophthalmologica (Oxford, England) (01.10.2015)
Published in Acta ophthalmologica (Oxford, England) (01.10.2015)
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Journal Article
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome
Seifert, W, Holder-Espinasse, M, Spranger, S, Hoeltzenbein, M, Rossier, E, Dollfus, H, Lacombe, D, Verloes, A, Chrzanowska, K H, Maegawa, G H B, Chitayat, D, Kotzot, D, Huhle, D, Meinecke, P, Albrecht, B, Mathijssen, I, Leheup, B, Raile, K, Hennies, H C, Horn, D
Published in Journal of medical genetics (01.05.2006)
Published in Journal of medical genetics (01.05.2006)
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Journal Article
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes
Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Mégarbané, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A. F., Boralevi, F., González-Enseñat, M. A., Rio, M., Bodemer, C., Philip, N., Cordier, M.-P., Goldenberg, A., Demeer, B., Wright, M., Blair, E., Puzenat, E., Parent, P., Sznajer, Y., Francannet, C., DiDonato, N., Boute, O., Barlogis, V., Moldovan, O., Bessis, D., Coubes, C., Tardieu, M., Cormier-Daire, V., Sousa, A. B., Franques, J., Toutain, A., Tajir, M., Elalaoui, S. C., Geneviève, D., Thevenon, J., Courcet, J.-B., Rivière, J.-B., Collet, C., Gigot, N., Faivre, L., Thauvin-Robinet, C.
Published in Clinical genetics (01.03.2015)
Published in Clinical genetics (01.03.2015)
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Web Resource
Electrical properties of AsxSe1−x (x≤0.05) Mott-barriers
Bharathan, P., Bandyopadhyay, S., Espinasse, M., Singh, R.K., Newman, N.
Published in Journal of non-crystalline solids (15.09.2011)
Published in Journal of non-crystalline solids (15.09.2011)
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Journal Article
What can we learn from old microdeletion syndromes using array-CGH screening?
Mosca-Boidron, A L, Bouquillon, S, Faivre, L, Callier, P, Andrieux, J, Marle, N, Bonnet, C, Vincent-Delorme, C, Berri, M, Plessis, G, Manouvrier-Hanu, S, Dieux-Coeslier, A, Thauvin-Robinet, C, Pipiras, E, Delahaye, A, Payet, M, Ragon, C, Masurel-Paulet, A, Questiaux, E, Benzacken, B, Jonveaux, P, Mugneret, F, Holder-Espinasse, M
Published in Clinical genetics (01.07.2012)
Published in Clinical genetics (01.07.2012)
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