1. Adrenal insufficiency due to high doses of maternal corticosteroid treatment in a premature baby. Issue 8 (3rd August 2022) Authors: Blondel, Florence; Pierron, Charlotte; Scalais, Emmanuel; Becker, Marianne Journal: BMJ case reports Issue: Volume 15:Issue 8(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autosomal‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function. Issue 8 (4th June 2018) Authors: Ruaud, Lyse; Rice, Gillian I.; Cabrol, Christelle; Piard, Juliette; Rodero, Mathieu; van Eyk, Lien; Boucher‐Brischoux, Elise; de Noordhout, Alain Maertens; Maré, Ricardo; Scalais, Emmanuel; Pauly, Fernand; Debray, François‐Guillaume; Dobyns, William; Uggenti, Carolina; Park, Ji Woo; Hur, Sun; Liv... Journal: Human mutation Issue: Volume 39:Issue 8(2018) Page Start: 1076 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway. Issue 1 (17th November 2016) Authors: Ziosi, Marcello; Di Meo, Ivano; Kleiner, Giulio; Gao, Xing‐Huang; Barca, Emanuele; Sanchez‐Quintero, Maria J; Tadesse, Saba; Jiang, Hongfeng; Qiao, Changhong; Rodenburg, Richard J; Scalais, Emmanuel; Schuelke, Markus; Willard, Belinda; Hatzoglou, Maria; Tiranti, Valeria; Quinzii, Catarina M Journal: EMBO molecular medicine Issue: Volume 9:Issue 1(2017) Page Start: 96 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features. Issue 10 (20th August 2020) Authors: Malhotra, Alka; Ziegler, Alban; Shu, Li; Perrier, Renee; Amlie-Wolf, Louise; Wohler, Elizabeth; Lygia de Macena Sobreira, Nara; Colin, Estelle; Vanderver, Adeline; Sherbini, Omar; Stouffs, Katrien; Scalais, Emmanuel; Serretti, Alessandro; Barth, Magalie; Navet, Benjamin; Rollier, Paul; Xi, Hui; W... Journal: Journal of medical genetics Issue: Volume 58:Issue 10(2021) Page Start: 712 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome. (21st September 2020) Authors: Bar, Claire; Kuchenbuch, Mathieu; Barcia, Giulia; Schneider, Amy; Jennesson, Mélanie; Le Guyader, Gwenaël; Lesca, Gaetan; Mignot, Cyril; Montomoli, Martino; Parrini, Elena; Isnard, Hervé; Rolland, Anne; Keren, Boris; Afenjar, Alexandra; Dorison, Nathalie; Sadleir, Lynette G.; Breuillard, Delphine... Journal: Epilepsia Issue: Volume 61:issue 11(2020) Page Start: 2461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. Issue 3 (14th October 2009) Authors: Thienpont, Bernard; Béna, Frédérique; Breckpot, Jeroen; Philip, Nicole; Menten, Björn; Van Esch, Hilde; Scalais, Emmanuel; Salamone, Jessica M; Fong, Chin-To; Kussmann, Jennifer L; Grange, Dorothy K; Gorski, Jerome L; Zahir, Farah; Yong, Siu Li; Morris, Michael M; Gimelli, Stefania; Fryns, Jean-P... Journal: Journal of medical genetics Issue: Volume 47:Issue 3(2010) Page Start: 155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Issue 1 (4th October 2019) Authors: 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, ... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 69 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Familial very long chain acyl‐CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis. (22nd October 2014) Authors: Scalais, Emmanuel; Bottu, Jean; Wanders, Ronald J. A.; Ferdinandusse, Sacha; Waterham, Hans R.; De Meirleir, Linda Journal: American journal of medical genetics Issue: Volume 167:Number 1(2015:Jan.) Page Start: 211 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses. Issue 1 (1st July 2019) Authors: Scalais, Emmanuel; Osterheld, Elise; Geron, Christine; Pierron, Charlotte; Chafai, Ronit; Schlesser, Vincent; Borde, Patricia; Regal, Luc; Laeremans, Hilde; van Gassen, Koen L. I.; van den Heuvel, L. Bert; De Meirleir, Linda Journal: JIMD reports Issue: Volume 49:Issue 1(2019) Page Start: 70 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure. Issue 6 (1st November 2016) Authors: Zeevaert, Renate; Scalais, Emmanuel; Muino Mosquera, Laura; De Meirleir, Linda; De Beaufort, Carine; Witsch, Michael; Jaeken, Jaak; De Schepper, Jean Journal: Acta clinica belgica Issue: Volume 71:Issue 6(2016) Page Start: 435 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗