X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (9) 9
genetics & heredity (7) 7
humans (7) 7
intellectual disability (5) 5
male (5) 5
mutations (5) 5
female (4) 4
genetic aspects (4) 4
mice (4) 4
research (4) 4
animals (3) 3
child, preschool (3) 3
epilepsy (3) 3
genetics (3) 3
phenotype (3) 3
abridged index medicus (2) 2
adolescent (2) 2
adult (2) 2
amino acid sequence (2) 2
angiogenesis (2) 2
article (2) 2
autism (2) 2
child (2) 2
clinical neurology (2) 2
cohort studies (2) 2
developmental delay (2) 2
epilepsy - genetics (2) 2
genetic disorders (2) 2
genetic variation (2) 2
genomes (2) 2
genomics (2) 2
health aspects (2) 2
intellectual disability - genetics (2) 2
life sciences (2) 2
medical genetics (2) 2
medical research (2) 2
medicine, experimental (2) 2
mental retardation (2) 2
mutation (2) 2
mutation, missense (2) 2
mutation, missense - genetics (2) 2
neurology (2) 2
neurons - metabolism (2) 2
pedigree (2) 2
protein (2) 2
research article (2) 2
risk factors (2) 2
skin (2) 2
spectrum (2) 2
161 (1) 1
16p13.11 predispose (1) 1
1q21.1 microdeletion syndrome (1) 1
[ sdv ] life sciences [q-bio] (1) 1
[ sdv.gen ] life sciences [q-bio]/genetics (1) 1
abnormalities, multiple - genetics (1) 1
aec (1) 1
age of onset (1) 1
aged, 80 and over (1) 1
agenesis (1) 1
alleles (1) 1
alpha gene (1) 1
american-college (1) 1
animal genetic engineering (1) 1
animal tissues (1) 1
articles (1) 1
association (1) 1
ataxia (1) 1
autism spectrum disorders (1) 1
autistic disorder - complications (1) 1
autistic disorder - genetics (1) 1
autistic features (1) 1
automobile industry (1) 1
axons - metabolism (1) 1
axons - pathology (1) 1
bartsocas-papas syndrome (1) 1
bartsocas–papas syndrome (1) 1
base sequence (1) 1
behavioral abnormalities (1) 1
bias (1) 1
biochemistry & molecular biology (1) 1
bioinformatics (1) 1
biological activity (1) 1
biological databases (1) 1
biology and life sciences (1) 1
blood (1) 1
blood vessels (1) 1
brain - pathology (1) 1
brain diseases - genetics (1) 1
brain malformation (1) 1
brain research (1) 1
cancer predisposition (1) 1
case report (1) 1
case-control studies (1) 1
catalogs (1) 1
central nervous system (1) 1
cerebellar ataxia (1) 1
cerebellar ataxia - complications (1) 1
cerebellar ataxia - genetics (1) 1
chain fatty-acids (1) 1
child development disorders, pervasive - genetics (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Human Mutation, ISSN 1059-7794, 11/2018, Volume 39, Issue 11, pp. 1505 - 1516
Journal Article
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 03/2018, Volume 19, Issue 1, pp. 41 - 41
Background: Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous... 
1q21.1 microdeletion syndrome | Bartsocas-Papas syndrome | CHUK | Cocoon syndrome | AEC | DEFECTS | RIPK4 | DISORDERS | GENETICS & HEREDITY | MALFORMATION | INTEGRATIVE GENOMICS VIEWER | COHORT | MUTATIONS | SPECTRUM | ASSOCIATION | Cleft Palate - diagnosis | Cleft Lip - diagnosis | Genetic Testing | Immunoglobulin G - blood | Humans | Eyelids - abnormalities | Child, Preschool | Male | Cleft Palate - genetics | Mutation, Missense | Genetic Variation | Microarray Analysis | Tumor Suppressor Proteins - genetics | Chromosomes, Human, Pair 1 - genetics | Immunologic Deficiency Syndromes - diagnosis | Abnormalities, Multiple - genetics | Chromosome Deletion | Megalencephaly - genetics | Amino Acid Sequence | Eye Abnormalities - diagnosis | Gene Frequency | Ectodermal Dysplasia - diagnosis | Protein-Serine-Threonine Kinases - genetics | Interferon Regulatory Factors - genetics | I-kappa B Kinase - genetics | Transcription Factors - genetics | Eye Abnormalities - genetics | Cleft Lip - genetics | Phenotype | Pedigree | Immunologic Deficiency Syndromes - genetics | Heterozygote | Ectodermal Dysplasia - genetics | Genetic disorders | Genetic variation | Immunological deficiency syndromes | Genetic aspects | Research | Ectodermal dysplasia | Infection | Dysplasia | DNA microarrays | Immunodeficiency | Development and progression | Skin | Health aspects | Index Medicus | Bartsocas–Papas syndrome
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
JAMA Neurology, ISSN 2168-6149, 04/2014, Volume 71, Issue 4, pp. 470 - 470
  The autosomal dominant spinocerebellar ataxias (SCAs) are a complex group of neurodegenerative disorders with significant genetic heterogeneity. Despite the... 
Neurology | Genotype & phenotype | Ataxia | Mapping | Genetic disorders | Mutation
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2013, Volume 8, Issue 9, pp. e74603 - e74603
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2019, Volume 105, Issue 3, pp. 631 - 639
Notch signaling is an established developmental pathway for brain morphogenesis. Given that Delta-like 1 (DLL1) is a ligand for the Notch receptor and that a... 
Notch signaling | developmental delay | vertebral segmentation defects | brain malformation | DLL1 | intellectual disability | autism | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2019, Volume 104, Issue 4, pp. 758 - 766
By using exome sequencing and a gene matching approach, we identified and inherited pathogenic variants in in 14 unrelated individuals and three affected... 
leukemia | KDM3B | lymphoma | developmental delay | short stature | cancer predisposition | facial recognition | intellectual disability | DEMETHYLASE KDM3B | INDIVIDUALS | RUBINSTEIN-TAYBI SYNDROME | PROTEIN | GENETICS | GENETICS & HEREDITY | MYELOID-LEUKEMIA | JMJD1C | MUTATIONS | WEAVER SYNDROME | DELETION | Genetic aspects | Research | Genetic variation | Mental retardation | Risk factors | Exome sequencing
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2018, Volume 102, Issue 5, pp. 744 - 759
Journal Article