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Search Results - Le Gac, Marie-Pascale
Search Results - Le Gac, Marie-Pascale
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A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis
by
Mousty, Eve
,
Issa, Sarah
,
Grosjean, Frédéric
,
Col, Jean-Yves
,
Khau Van Kien, Philippe
,
Perez, Marie-Josée
,
Petrov, Yuliya
,
Reboul, Dorothée
,
Faubert, Emmanuelle
,
Le Gac, Marie-Pascale
,
Bondurand, Nadège
,
Chiesa, Jean
,
Pingault, Véronique
Published in
Prenatal diagnosis
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B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation
by
Yauy, Kevin
,
Tran Mau-Them, Frederic
,
Willems, Marjolaine
,
Coubes, Christine
,
Blanchet, Patricia
,
Herlin, Christian
,
Taleb Arrada, Ikram
,
Sanchez, Elodie
,
Faure, Jean-Michel
,
Le Gac, Marie-Pascale
,
Prodhomme, Olivier
,
Boland, Anne
,
Meyer, Vincent
,
Rivière, Jean-Baptiste
,
Duffourd, Yannis
,
Deleuze, Jean-François
,
Guignard, Thomas
,
Captier, Guillaume
,
Barat-Houari, Mouna
,
Genevieve, David
Published in
Genetics in medicine
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Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway
by
Bourgon, N.
,
Carmignac, V.
,
Sorlin, A.
,
Duffourd, Y.
,
Philippe, C.
,
Thauvin‐Robinet, C.
,
Guibaud, L.
,
Faivre, L.
,
Vabres, P.
,
Kuentz, P.
,
Tisserand, Emilie
,
Chevarin, Martin
,
Delanne, Julian
,
Jouan, Thibaud
,
Pöe, Charlotte
,
Abel, Carine
,
Allory, Patrick
,
Amram, Daniel
,
Attie‐Bitach, Tania
,
Aziza, Jacqueline
,
Benevent, Jean‐Baptiste
,
Bidat, Laurent
,
Bessières, Bettina
,
Boussion, Françoise
,
Cabaret‐Dufour, Anne‐Sophie
,
Chanoz‐Poulard, Geneviève
,
Chassaing, Nicolas
,
Ciorna‐Monferrato, Viorica
,
Cordier, Anne‐Gaëlle
,
Cordier, Marie‐Pierre
,
Cuillier, Fabrice
,
Doray, Berenice
,
Encha‐Razavi, Ferechte
,
Eszto, Marie‐Laure
,
Bianco, Catherine Fallet
,
Fernandez, Carla
,
Ferry, Mathilde
,
Fichez, Axel
,
Vequeau, Valérie Goua
,
Grevent, David
,
Guichet, Agnès
,
Laurent, Nicole
,
Le Gac, Marie‐Pascale
,
Lefebvre, Mathilde
,
Letard, Pascaline
,
Loget, Philippe
,
Loisel, Didier
,
Martinovich, Jelena
,
Masutti, Jean‐Paul
,
Millischer, Anne‐Elodie
,
Musizzano, Yuri
,
Nord, Jean‐François
,
Perez, Marie‐Josée
,
Prieur, Fabienne
,
Proisy, Maia
,
Quelin, Chloé
,
Roth, Philippe
,
Rousseau, Thierry
,
Salomon, Laurent
,
Sonigo, Pascale
,
Spaggiari, Emmanuel
,
Stempfle, Noëlle
,
Stirnemann, Julien
,
Tanteau, Julia
,
Triau, Stéphane
,
Vasiljevic, Alexandre
,
Ville, Yves
,
Zidane‐Marinnes, Merzouka
,
Kaltenbach, Sophie
,
Rivière, Jean‐Baptiste
Published in
Ultrasound in obstetrics & gynecology
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A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis: Waardenburg syndrome with fetal presentation
by
Mousty, Eve
,
Issa, Sarah
,
Grosjean, Frédéric
,
Col, Jean-Yves
,
Khau Van Kien, Philippe
,
Perez, Marie-Josée
,
Petrov, Yuliya
,
Reboul, Dorothée
,
Faubert, Emmanuelle
,
Le Gac, Marie-Pascale
,
Bondurand, Nadège
,
Chiesa, Jean
,
Pingault, Véronique
Published in
Prenatal diagnosis
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A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis
by
Mousty, Eve
,
Issa, Sarah
,
Grosjean, Frédéric
,
Col, Jean-Yves
,
Khau Van Kien, Philippe
,
Perez, Marie-Josée
,
Petrov, Yuliya
,
Reboul, Dorothée
,
Faubert, Emmanuelle
,
Le Gac, Marie-Pascale
,
Bondurand, Nadège
,
Chiesa, Jean
,
Pingault, Véronique
Published in
Prenatal diagnosis
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Prenatal Diagnosis
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Genetics In Medicine
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Amniotic Fluid
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Antley-Bixler Syndrome
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B3Gat3
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