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Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease. [electronic resource] by
- Valayannopoulos, Vassili
- Verhoeven, Nanda M
- Mention, Karine
- Salomons, Gajja S
- Sommelet, Danièle
- Gonzales, Marie
- Touati, Guy
- de Lonlay, Pascale
- Jakobs, Cornelis
- Saudubray, Jean-Marie
Producer: 20070104
In:
The Journal of pediatrics vol. 149
Availability: No items available.
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14.
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Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI. [electronic resource] by
- Katorza, Eldad
- Nahama-Allouche, Catherine
- Castaigne, Vanina
- Gonzales, Marie
- Galliani, Eva
- Marlin, Sandrine
- Jouannic, Jean-Marie
- Rosenblatt, Jonathan
- le Pointe, Hubert Ducou
- Garel, Catherine
Producer: 20110817
In:
Pediatric radiology vol. 41
Availability: No items available.
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15.
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A practical approach to the examination of the malformed fetal brain: impact on genetic counselling. [electronic resource] by
- Encha-Razavi, Férechté
- Gonzalès, Marie
- Laquerrière, Annie
- Martinovic, Jelena
- Sinico, Martine
- Allias, Fabienne
- Bonnière, Maryse
- Esculpavit, Chantal
- Gerard, Marion
- Attié-Bitach, Tania
- Vekemans, Michel
Producer: 20080430
In:
Pathology vol. 40
Availability: No items available.
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Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis. [electronic resource] by
- Gonzales, Marie
- Verloes, Alain
- Saint Frison, Marie-Hélène
- Perrotez, Chantal
- Bourdet, Odile
- Encha-Razavi, Ferechte
- Joyé, Nicole
- Taillemite, Jean-Louis
- Walbaum, Roland
- Pfeiffer, Rudolf
- Maroteaux, Pierre
Producer: 20050822
In:
American journal of medical genetics. Part A vol. 136A
Availability: No items available.
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New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling. [electronic resource] by
- Schibler, Laurent
- Gibbs, Linda
- Benoist-Lasselin, Catherine
- Decraene, Charles
- Martinovic, Jelena
- Loget, Philippe
- Delezoide, Anne-Lise
- Gonzales, Marie
- Munnich, Arnold
- Jais, Jean-Philippe
- Legeai-Mallet, Laurence
Producer: 20100312
In:
PloS one vol. 4
Availability: No items available.
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18.
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De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. [electronic resource] by
- Laquerriere, Annie
- Gonzales, Marie
- Saillour, Yoann
- Cavallin, Mara
- Joyē, Nicole
- Quēlin, Chloé
- Bidat, Laurent
- Dommergues, Marc
- Plessis, Ghislaine
- Encha-Razavi, Ferechte
- Chelly, Jamel
- Bahi-Buisson, Nadia
- Poirier, Karine
Producer: 20161213
In:
European journal of medical genetics vol. 59
Availability: No items available.
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19.
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Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations. [electronic resource] by
- Van-Gils, Julien
- Naudion, Sophie
- Toutain, Jérôme
- Lancelot, Gwenaelle
- Attié-Bitach, Tania
- Blesson, Sophie
- Demeer, Bénédicte
- Doray, Bérénice
- Gonzales, Marie
- Martinovic, Jelena
- Whalen, Sandra
- Taine, Laurence
- Arveiler, Benoit
- Lacombe, Didier
- Fergelot, Patricia
Producer: 20200803
In:
Clinical genetics vol. 95
Availability: No items available.
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20.
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Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis. [electronic resource] by
- Maluenda, Jérôme
- Manso, Constance
- Quevarec, Loic
- Vivanti, Alexandre
- Marguet, Florent
- Gonzales, Marie
- Guimiot, Fabien
- Petit, Florence
- Toutain, Annick
- Whalen, Sandra
- Grigorescu, Romulus
- Coeslier, Anne Dieux
- Gut, Marta
- Gut, Ivo
- Laquerrière, Annie
- Devaux, Jérôme
- Melki, Judith
Producer: 20170524
In:
American journal of human genetics vol. 99
Availability: No items available.
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