1. Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series. (5th January 2015) Authors: Teixeira, Sara R.; Blondiaux, Eléonore; Cassart, Marie; Couture, Alain; Moutard, Marie‐Laure; Whalen, Sandra; Gelot, Antoinette; Ducou le Pointe, Hubert; Garel, Catherine; GRRIF (Groupe de Recherche Radiopédiatrique en Imagerie Fœtale)‐SFIPP (Société Francophone d'Imagerie Pédiatrique et Prénatale) Journal: Prenatal diagnosis Issue: Volume 35:Number 4(2015:Apr.) Page Start: 337 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. (16th January 2015) Authors: Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel‐Hamid, Mohamed S.; Abdel‐Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Cath... Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 296 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical presentation and outcome of 20 fetuses with parvovirus B19 infection complicated by severe anemia and/or fetal hydrops. (19th June 2014) Authors: Macé, Guillaume; Sauvan, Marine; Castaigne, Vanina; Moutard, Marie‐Laure; Cortey, Anne; Maisonneuve, Emeline; Garel, Catherine; Dhombres, Ferdinand; Boujenah, Jeremy; Mailloux, Agnès; Carbonne, Bruno Journal: Prenatal diagnosis Issue: Volume 34:Number 11(2014:Nov.) Page Start: 1023 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cover Image, Volume 39, Issue 1. Issue 1 (7th December 2017) Authors: Marsh, Ashley P. L.; Edwards, Timothy J.; Galea, Charles; Cooper, Helen M.; Engle, Elizabeth C.; Jamuar, Saumya S.; Méneret, Aurélie; Moutard, Marie‐Laure; Nava, Caroline; Rastetter, Agnès; Robinson, Gail; Rouleau, Guy; Roze, Emmanuel; Spencer‐Smith, Megan; Trouillard, Oriane; Billette de Villeme... Journal: Human mutation Issue: Volume 39:Issue 1(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Issue 1 (11th November 2017) Authors: Marsh, Ashley P. L.; Edwards, Timothy J.; Galea, Charles; Cooper, Helen M.; Engle, Elizabeth C.; Jamuar, Saumya S.; Méneret, Aurélie; Moutard, Marie‐Laure; Nava, Caroline; Rastetter, Agnès; Robinson, Gail; Rouleau, Guy; Roze, Emmanuel; Spencer‐Smith, Megan; Trouillard, Oriane; Billette de Villeme... Journal: Human mutation Issue: Volume 39:Issue 1(2018) Page Start: 23 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. EEG profiles during general anesthesia in children: A comparative study between sevoflurane and propofol. Issue 3 (12th February 2019) Authors: Rigouzzo, Agnes; Khoy‐Ear, Linda; Laude, Dominique; Louvet, Nicolas; Moutard, Marie‐Laure; Sabourdin, Nada; Constant, Isabelle Editors: Kurth, Dean Journal: Paediatric anaesthesia Issue: Volume 29:Issue 3(2019:Mar.) Page Start: 250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Epilepsy in young Tsc1+/− mice exhibits age‐dependent expression that mimics that of human tuberous sclerosis complex. (13th February 2016) Authors: Gataullina, Svetlana; Lemaire, Eric; Wendling, Fabrice; Kaminska, Anna; Watrin, Françoise; Riquet, Audrey; Ville, Dorothée; Moutard, Marie‐Laure; de Saint Martin, Anne; Napuri, Silvia; Pedespan, Jean‐Michel; Eisermann, Monika; Bahi‐Buisson, Nadia; Nabbout, Rima; Chiron, Catherine; Dulac, Olivier;... Journal: Epilepsia Issue: Volume 57:issue 4(2016) Page Start: 648 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum. Issue 3 (15th December 2021) Authors: Vibert, Roseline; Mignot, Cyril; Keren, Boris; Chantot‐Bastaraud, Sandra; Portnoï, Marie‐France; Nouguès, Marie‐Christine; Moutard, Marie‐Laure; Faudet, Anne; Whalen, Sandra; Haye, Damien; Garel, Catherine; Chatron, Nicolas; Rossi, Massimiliano; Vincent‐Delorme, Catherine; Boute, Odile; Delobel, ... Journal: Clinical genetics Issue: Volume 101:Issue 3(2022) Page Start: 307 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗