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Journal Article
by Coppola, Antonietta and Cellini, Elena and Stamberger, Hannah and Saarentaus, Elmo and Cetica, Valentina and Lal, Dennis and Djémié, Tania and Bartnik‐Glaska, Magdalena and Ceulemans, Berten and Helen Cross, J and Deconinck, Tine and Masi, Salvatore De and Dorn, Thomas and Guerrini, Renzo and Hoffman‐Zacharska, Dorotha and Kooy, Frank and Lagae, Lieven and Lench, Nicholas and Lemke, Johannes R and Lucenteforte, Ersilia and Madia, Francesca and Mefford, Heather C and Morrogh, Deborah and Nuernberg, Peter and Palotie, Aarno and Schoonjans, An‐Sofie and Striano, Pasquale and Szczepanik, Elzbieta and Tostevin, Anna and Vermeesch, Joris R and Van Esch, Hilde and Van Paesschen, Wim and Waters, Jonathan J and Weckhuysen, Sarah and Zara, Federico and De Jonghe, Peter and Sisodiya, Sanjay M and Marini, Carla and Lehesjioki, Anna‐Elina and Craiu, Dana and Talvik, Tiina and Caglayan, Hande and Serratosa, Jose and Sterbova, Katalin and Møller, Rikke S and Hjalgrim, Helle and Lerche, Holger and Weber, Yvonne and Helbig, Ingo and Spiczak, Sarah and Barba, Carmen and Bogaerts, Anneleen and Boni, Antonella and Galizia, Elisabeth Caruana and Chiari, Sara and Gacomo, Gianpiero and Ferrari, Annarita and Guarducci, Silvia and Giglio, Sabrina and Holmgren, Philip and Leu, Costin and Melani, Federico and Novara, Francesca and Pantaleo, Marilena and Peeters, Elke and Pisano, Tiziana and Rosati, Anna and Sander, Josemir and Schoeler, Natasha and Stankiewicz, Pawel and Striano, Salvatore and Suls, Arvid and Traverso, Monica and Vandeweyer, Geert and Dijck, Anke and Zuffardi, Orsetta and EpiCNV Consortium and EuroEPINOMICS-RES Consortium and EuroEPINOMICS‐RES Consortium
Epilepsia, ISSN 0013-9580, 04/2019, Volume 60, Issue 4, pp. 689 - 706
Journal Article
Journal Article
Przegla̧d lekarski, ISSN 0033-2240, 2015, Volume 72, Issue 11, pp. 694 - 696
Journal Article
Przeglad lekarski, ISSN 0033-2240, 2015, Volume 72, Issue 11, p. 694
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 967 - 975
Journal Article
Brain & Development, ISSN 0387-7604, 2009, Volume 32, Issue 7, pp. 574 - 578
Abstract The term 4H was suggested for the rare, novel entity with hypomyelination, hypogonadotropic hypogonadism and hypodontia. A combination of clinical... 
Neurology | Hypogonadotropic hypogonadism | Brain magnetic resonance imaging (MRI) | Ataxia | Hypomyelination | Hypodontia | LEUKOENCEPHALOPATHY | ATROPHY | BASAL GANGLIA | DISEASE | CEREBELLUM | BRAIN | CLINICAL NEUROLOGY | Magnetic Resonance Imaging | Anodontia | Diagnosis, Differential | Myelin Sheath - pathology | Pituitary Gland - physiopathology | Humans | Poland | Adult | Female | Hypogonadism | Syndrome
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2016, Volume 53, Issue 8, pp. 511 - 522
ObjectiveWe aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype–phenotype correlations.MethodsWe... 
NMDA RECEPTOR | AUTISM | SEIZURES | DE-NOVO MUTATIONS | MENTAL-RETARDATION | SPEECH IMPAIRMENT | GENETICS & HEREDITY | SYNGAP1 CAUSE | GTPASE-ACTIVATING PROTEIN | SYNAPTIC PLASTICITY | HAPLOINSUFFICIENCY | Care and treatment | Epilepsy | Genetics | Nervous system | Degeneration | Research | Mental retardation | Patients | Health aspects | Life Sciences | Neurons and Cognition
Journal Article
Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego, ISSN 1426-9686, 04/2017, Volume 42, Issue 250, p. 151
Demographic changes in contemporary society require implementation of proper perioperative care of elderly patients due to an increased risk of perioperative... 
Activities of Daily Living | Perioperative Period | Spirometry | Exercise Test | Risk Assessment | Humans | Aged, 80 and over | Female | Geriatric Assessment - methods | Male | Aged | Nutritional Status
Journal Article
Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego, ISSN 1426-9686, 04/2017, Volume 42, Issue 250, pp. 151 - 157
Journal Article
Journal Article