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Intrafamilial Variability in LPIN1-Related Rhabdomyolysis.
Published in:
2020
By:
- Pons, Linda;
- acquaviva-Bourdain, Cécile;
- Teyssedre, Sonia;
- Didier, Capucine;
- Veauville, alice;
- Steffann, Julie;
- Gobin, Stéphanie;
- de Lonlay, Pascale;
- Guffon, Nathalie;
- Fouilhoux, alain
Publication type:
Abstract
Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism.
Published in:
Molecular Syndromology, 2020, v. 11, n. 4, p. 223, doi. 10.1159/000509837
By:
- Perge, Kevin;
- Massoud, Mona;
- Gauthier-Moulinier, Hélène;
- Lascols, Olivier;
- Pangaud, Nicolas;
- Villanueva, Carine;
- Pons, Linda
Publication type:
Article
Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing.
Published in:
Molecular Syndromology, 2019, v. 10, n. 4, p. 209, doi. 10.1159/000500215
By:
- Pons, Linda;
- Bouvagnet, Patrice;
- Bakloul, Mohamed;
- Di Filippo, Sylvie;
- Buisson, adrien;
- Chatron, Nicolas;
- Labalme, audrey;
- Metton, Olivier;
- Mitchell, Julia;
- Diguet, Flavie;
- Rollat-Farnier, Pierre-antoine;
- Sanlaville, Damien;
- Schluth-Bolard, Caroline
Publication type:
Article
ZEB2, a new candidate gene for asplenia.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-2
By:
- Pons, Linda;
- Dupuis-Girod, Sophie;
- Cordier, Marie-Pierre;
- Edery, Patrick;
- Rossi, Massimiliano
Publication type:
Article
ZEB2, a new candidate gene for asplenia.
Published in:
2014
By:
- Pons, Linda;
- Dupuis-Girod, Sophie;
- Cordier, Marie-Pierre;
- Edery, Patrick;
- Rossi, Massimiliano
Publication type:
Case Study
A New Observation of an Atypical and Severe Variant of the Guillain-Barre Syndrome in a Child: Remaining Challenges for Diagnosis, Nosologic Classification, and Therapeutic Course.
Published in:
Child Neurology Open, 2015, v. 2, n. 4, p. 1, doi. 10.1177/2329048X15609053
By:
- Pons, Linda;
- Manel, Véronique;
- Ville, Dorothée;
- Javouhey, Etienne;
- Bordet, Fabienne
Publication type:
Article
A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 164, doi. 10.1002/ajmg.a.36759
By:
- Pons, Linda;
- Cordier, Marie Pierre;
- Labalme, Audrey;
- Till, Marianne;
- Louvrier, Camille;
- Schluth‐Bolard, Caroline;
- Lesca, Gaetan;
- Edery, Patrick;
- Sanlaville, Damien
Publication type:
Article
Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology.
Published in:
Child's Nervous System, 2020, v. 36, n. 5, p. 961, doi. 10.1007/s00381-020-04551-4
By:
- Fohlen, Martine;
- Harzallah, Ines;
- Polivka, Marc;
- Giuliano, Fabienne;
- Pons, Linda;
- Streichenberger, Nathalie;
- Dorfmüller, Georg;
- Touraine, Renaud
Publication type:
Article
B‐cell immune deficiency in twin sisters expands the phenotype of MOPDI.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 476, doi. 10.1111/cge.14571
By:
- Gauthier, Lucas W.;
- Gossez, Morgane;
- Malcus, Christophe;
- Viel, Sébastien;
- Monneret, Guillaume;
- Bordonné, Remy;
- Pons, Linda;
- Cabet, Sara;
- Delous, Marion;
- Mazoyer, Sylvie;
- Putoux, Audrey;
- Edery, Patrick
Publication type:
Article
Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD.
Published in:
Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-020-00410-w
By:
- Osório, Joana Maria Almeida;
- Rodríguez-Herreros, Borja;
- Romascano, David;
- Junod, Vincent;
- Habegger, Aline;
- Pain, Aurélie;
- Richetin, Sonia;
- Yu, Paola;
- Isidor, Bertrand;
- Van Maldergem, Lionel;
- Pons, Linda;
- Manificat, Sabine;
- Chabane, Nadia;
- Jequier Gygax, Marine;
- Maillard, Anne Manuela
Publication type:
Article

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