X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (556) 556
Publication (49) 49
Paper (26) 26
Book Review (21) 21
Book Chapter (8) 8
Dissertation (7) 7
Book / eBook (3) 3
Conference Proceeding (3) 3
Magazine Article (1) 1
Newspaper Article (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (209) 209
humans (162) 162
male (109) 109
female (96) 96
adult (73) 73
animals (58) 58
clinical neurology (54) 54
middle aged (51) 51
analysis (47) 47
epilepsy (44) 44
neurosciences (34) 34
young adult (34) 34
adolescent (31) 31
seizures (29) 29
aged (28) 28
physics (28) 28
experiment (25) 25
high energy physics - experiment (25) 25
microbiology (25) 25
particle physics (25) 25
research (25) 25
treatment outcome (25) 25
adults (24) 24
genetic aspects (24) 24
article (23) 23
neurology (23) 23
psychiatry (23) 23
children (22) 22
mice (22) 22
physics - high energy physics - experiment (22) 22
proteins (22) 22
risk factors (22) 22
medicine (21) 21
child (20) 20
genetics & heredity (20) 20
genetics (19) 19
multidisciplinary sciences (19) 19
health aspects (18) 18
high energy physics (18) 18
brazil (17) 17
mutation (17) 17
research article (17) 17
studies (17) 17
cell biology (16) 16
immunology (16) 16
pediatrics (16) 16
brain (15) 15
diagnosis (15) 15
electroencephalography (15) 15
expression (15) 15
infections (15) 15
phenotype (15) 15
prevalence (15) 15
retrospective studies (15) 15
schizophrenia (15) 15
science (15) 15
particle physics - experiment (14) 14
surgery (14) 14
behavioral sciences (13) 13
biology (13) 13
cohort studies (13) 13
cross-sectional studies (13) 13
disease (13) 13
epidemiology (13) 13
genomes (13) 13
medical research (13) 13
nuclear experiment (13) 13
obesity (13) 13
physiological aspects (13) 13
public, environmental & occupational health (13) 13
time factors (13) 13
aged, 80 and over (12) 12
anticonvulsants - therapeutic use (12) 12
brazil - epidemiology (12) 12
child, preschool (12) 12
genes (12) 12
genetic research (12) 12
pharmacology & pharmacy (12) 12
rats (12) 12
usage (12) 12
body mass index (11) 11
disease models, animal (11) 11
gene expression (11) 11
genotype (11) 11
inflammation (11) 11
metabolism (11) 11
phenomenology (11) 11
rehabilitation (11) 11
age (10) 10
biochemistry & molecular biology (10) 10
cytokines (10) 10
infectious diseases (10) 10
medicine and health sciences (10) 10
medicine, experimental (10) 10
patients (10) 10
physiology (10) 10
public health (10) 10
resistance (10) 10
risk (10) 10
virology (10) 10
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Clinical Neuroradiology, ISSN 1869-1439, 08/2019, pp. 1 - 6
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 01/2014, Volume 56, Issue 1, pp. 10 - 11
Journal Article
Journal Article
Clinical Neurophysiology, ISSN 1388-2457, 05/2014, Volume 125, Issue 5, p. e12
We review the discovery of two genes disrupted in Mabry syndrome (hyperphosphatasia with developmental disability; OMIM#239300): a syndrome notable for... 
Genetic research | Genetic aspects
Journal Article
Clinical Neurophysiology, ISSN 1388-2457, 2013, Volume 125, Issue 5, pp. e12 - e12
We review the discovery of two genes disrupted in Mabry syndrome (hyperphosphatasia with developmental disability; OMIM#239300): a syndrome notable for... 
Neurology
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2016
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 02/2015, Volume 57, Issue 2, pp. 118 - 119
This commentary is on the case report by Dalic et al. on pages 200–202 of this issue. 
PEDIATRICS | CLINICAL NEUROLOGY | Anticonvulsants - therapeutic use | Male | Epilepsies, Myoclonic - drug therapy | Triazines - therapeutic use | Humans | Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2013, Volume 45, Issue 7, pp. 825 - 830
Journal Article
Clinical Endocrinology, ISSN 0300-0664, 08/2014, Volume 81, Issue 2, p. 190
22q11ae2 deletion syndrome (22q11ae2DS) is a relatively common yet under-recognized genetic syndrome that may present with endocrine features. We aimed to... 
Parathyroid hormone | Analysis | Hypothyroidism | Prevalence studies (Epidemiology)
Journal Article
Clinical Neurophysiology, ISSN 1388-2457, 2012, Volume 124, Issue 6, pp. e4 - e4
Hyperphosphatasia with neurologic deficit (Mabry syndrome) was first described in a single family (OMIM#239300) by Mabry et al. (1970) . Although considered... 
Neurology
Journal Article
Canadian Journal of Neurological Sciences, ISSN 0317-1671, 03/2013, Volume 40, Issue 2, pp. 137 - 138
Journal Article
by Hamdan, Fadi F and Myers, Candace T and Cossette, Patrick and Lemay, Philippe and Spiegelman, Dan and Laporte, Alexandre Dionne and Nassif, Christina and Diallo, Ousmane and Monlong, Jean and Cadieux-Dion, Maxime and Dobrzeniecka, Sylvia and Meloche, Caroline and Retterer, Kyle and Cho, Megan T and Rosenfeld, Jill A and Bi, Weimin and Massicotte, Christine and Miguet, Marguerite and Brunga, Ledia and Regan, Brigid M and Mo, Kelly and Tam, Cory and Schneider, Amy and Hollingsworth, Georgie and FitzPatrick, David R and Donaldson, Alan and Canham, Natalie and Blair, Edward and Kerr, Bronwyn and Fry, Andrew E and Thomas, Rhys H and Shelagh, Joss and Hurst, Jane A and Brittain, Helen and Blyth, Moira and Lebel, Robert Roger and Gerkes, Erica H and Davis-Keppen, Laura and Stein, Quinn and Chung, Wendy K and Dorison, Sara J and Benke, Paul J and Fassi, Emily and Corsten-Janssen, Nicole and Kamsteeg, Erik-Jan and Mau-Them, Frederic T and Bruel, Ange-Line and Verloes, Alain and Õunap, Katrin and Wojcik, Monica H and Albert, Dara V.F and Venkateswaran, Sunita and Ware, Tyson and Jones, Dean and Liu, Yu-Chi and Mohammad, Shekeeb S and Bizargity, Peyman and Bacino, Carlos A and Leuzzi, Vincenzo and Martinelli, Simone and Dallapiccola, Bruno and Tartaglia, Marco and Blumkin, Lubov and Wierenga, Klaas J and Purcarin, Gabriela and O’Byrne, James J and Stockler, Sylvia and Lehman, Anna and Keren, Boris and Nougues, Marie-Christine and Mignot, Cyril and Auvin, Stéphane and Nava, Caroline and Hiatt, Susan M and Bebin, Martina and Shao, Yunru and Scaglia, Fernando and Lalani, Seema R and Frye, Richard E and Jarjour, Imad T and Jacques, Stéphanie and Boucher, Renee-Myriam and Riou, Emilie and Srour, Myriam and Carmant, Lionel and Lortie, Anne and Major, Philippe and Diadori, Paola and Dubeau, François and D’Anjou, Guy and Bourque, Guillaume and Berkovic, Samuel F and Sadleir, Lynette G and Campeau, Philippe M and Kibar, Zoha and Lafrenière, Ronald G and Girard, Simon L and Mercimek-Mahmutoglu, Saadet and Boelman, Cyrus and Rouleau, Guy A and ... and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 664 - 685
Journal Article
Epilepsia, ISSN 0013-9580, 08/2012, Volume 53, Issue 8, pp. 1421 - 1428
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2015, Volume 47, Issue 1, pp. 39 - 46
Journal Article
Human Pathology: Case Reports, ISSN 2214-3300, 2016, Volume 9, pp. 55 - 57
Abstract22q11.2 deletion syndrome (22q11DS) is the most common pathogenic copy number variant in humans. Neuropsychiatric phenotypes, including schizophrenia,... 
Pathology | xanthogranuloma | neuronal migration | periventricular nodular heterotopia | 22q11.2 Deletion Syndrome
Journal Article
JAMA Neurology, ISSN 2168-6149, 11/2017, Volume 74, Issue 11, p. 1301
Importance Copy number variation (CNV) is an important cause of neuropsychiatric disorders. Little is known about the role of CNV in adults with epilepsy and... 
Pathogens | Intellectual disabilities | Genes | Epilepsy | Neuropsychology
Journal Article
NeuroReport, ISSN 0959-4965, 01/2012, Volume 23, Issue 1, pp. 45 - 48
Migraine with aura (MA) may share some but not all risk factors with other forms of migraine. As common migraine without aura (MO) has been associated with the... 
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.