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Psychomotor development in infants and young children with Down syndrome—A prospective, repeated measure, post‐hoc analysis.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 818, doi. 10.1002/ajmg.a.62587
By:
- Sacco, Silvia;
- Bouis, Charles;
- Gallard, Jennifer;
- Pichot, Aude;
- Blondiaux, Elodie;
- Marey, Isabelle;
- Dorison, Nathalie;
- Sturtz, Franck;
- Cieuta‐Walti, Cecile;
- Ravel, Aimé;
- Mircher, Clotilde
Publication type:
Article
Anthropometric charts and congenital anomalies in newborns with Down syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2166, doi. 10.1002/ajmg.a.38305
By:
- Mircher, Clotilde;
- Toulas, Jeanne;
- Cieuta‐Walti, Cécile;
- Marey, Isabelle;
- Conte, Martine;
- González Briceño, Laura;
- Tanguy, Marie‐Laure;
- Rethore, Marie‐Odile;
- Ravel, Aime
Publication type:
Article
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2277, doi. 10.1002/ajmg.a.35494
By:
- Rambaud, Jérôme;
- Marey, Isabelle;
- Dupont, Céline;
- Perrin-Sabourin, Laurence;
- Capri, Yline;
- Tabet, Anne Claude;
- Benzacken, Brigitte;
- Verloes, Alain;
- Aboura, Azzedine;
- Gérard, Marion
Publication type:
Article
Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Published in:
2019
By:
- Tabet, Anne-Claude;
- Rolland, Thomas;
- Ducloy, Marie;
- Lévy, Jonathan;
- Buratti, Julien;
- Mathieu, Alexandre;
- Haye, Damien;
- Perrin, Laurence;
- Dupont, Céline;
- Passemard, Sandrine;
- Capri, Yline;
- Verloes, Alain;
- Drunat, Séverine;
- Keren, Boris;
- Mignot, Cyril;
- Marey, Isabelle;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Pipiras, Eva;
- Benzacken, Brigitte
Publication type:
Correction Notice
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Published in:
NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
By:
- Tabet, Anne-Claude;
- Rolland, Thomas;
- Ducloy, Marie;
- Lévy, Jonathan;
- Buratti, Julien;
- Mathieu, Alexandre;
- Haye, Damien;
- Perrin, Laurence;
- Dupont, Céline;
- Passemard, Sandrine;
- Capri, Yline;
- Verloes, Alain;
- Drunat, Séverine;
- Keren, Boris;
- Mignot, Cyril;
- Marey, Isabelle;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Pipiras, Eva;
- Benzacken, Brigitte
Publication type:
Article
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Published in:
NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
By:
- Tabet, Anne-Claude;
- Rolland, Thomas;
- Ducloy, Marie;
- Lévy, Jonathan;
- Buratti, Julien;
- Mathieu, Alexandre;
- Haye, Damien;
- Perrin, Laurence;
- Dupont, Céline;
- Passemard, Sandrine;
- Capri, Yline;
- Verloes, Alain;
- Drunat, Séverine;
- Keren, Boris;
- Mignot, Cyril;
- Marey, Isabelle;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Pipiras, Eva;
- Benzacken, Brigitte
Publication type:
Article
Acute Regression in Young People with Down Syndrome.
Published in:
Brain Sciences (2076-3425), 2017, v. 7, n. 6, p. 57, doi. 10.3390/brainsci7060057
By:
- Mircher, Clotilde;
- Cieuta-Walti, Cécile;
- Marey, Isabelle;
- Rebillat, Anne-Sophie;
- Cretu, Laura;
- Milenko, Eliane;
- Conte, Martine;
- Sturtz, Franck;
- Rethore, Marie-Odile;
- Ravel, Aimé
Publication type:
Article
Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome.
Published in:
Hormone Research in Paediatrics, 2016, v. 86, n. 3, p. 206, doi. 10.1159/000446435
By:
- Brioude, Frederic;
- Nicolas, Carole;
- Marey, Isabelle;
- Gaillard, Stephan;
- Bernier, Michèle;
- Das Neves, Cristina;
- Le Bouc, Yves;
- Touraine, Philippe;
- Netchine, Irene
Publication type:
Article
ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Published in:
Human Mutation, 2020, v. 41, n. 5, p. 1042, doi. 10.1002/humu.24001
By:
- Yates, Thabo M.;
- Drucker, Morgan;
- Barnicoat, Angela;
- Low, Karen;
- Gerkes, Erica H.;
- Fry, Andrew E.;
- Parker, Michael J.;
- O'Driscoll, Mary;
- Charles, Perrine;
- Cox, Helen;
- Marey, Isabelle;
- Keren, Boris;
- Rinne, Tuula;
- McEntagart, Meriel;
- Ramachandran, Vijaya;
- Drury, Suzanne;
- Vansenne, Fleur;
- Sival, Deborah A.;
- Herkert, Johanna C.;
- Callewaert, Bert
Publication type:
Article
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 69, doi. 10.1002/humu.23915
By:
- Bar, Claire;
- Barcia, Giulia;
- Jennesson, Mélanie;
- Le Guyader, Gwenaël;
- Schneider, Amy;
- Mignot, Cyril;
- Lesca, Gaetan;
- Breuillard, Delphine;
- Montomoli, Martino;
- Keren, Boris;
- Doummar, Diane;
- Billette de Villemeur, Thierry;
- Afenjar, Alexandra;
- Marey, Isabelle;
- Gerard, Marion;
- Isnard, Hervé;
- Poisson, Alice;
- Dupont, Sophie;
- Berquin, Patrick;
- Meyer, Pierre
Publication type:
Article
Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy.
Published in:
Open Medicine, 2020, v. 15, n. 1, p. 435, doi. 10.1515/med-2020-0150
By:
- Marey, Isabelle;
- Fressart, Véronique;
- Rambaud, Caroline;
- Fornes, Paul;
- Martin, Laurent;
- Grotto, Sarah;
- Alembik, Yves;
- Gorka, Hervé;
- Millat, Gilles;
- Gandjbakhch, Estelle;
- Bordet, Céline;
- Lorin de la Grandmaison, Geoffroy;
- Richard, Pascale;
- Charron, Philippe
Publication type:
Article

Found: 11