X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
science & technology (80) 80
life sciences & biomedicine (77) 77
humans (68) 68
genetics & heredity (55) 55
female (46) 46
male (43) 43
genetic aspects (27) 27
child, preschool (25) 25
child (23) 23
genetics (22) 22
mutation (22) 22
research (21) 21
phenotype (20) 20
infant (19) 19
genetic variation (16) 16
adolescent (15) 15
adult (15) 15
polymorphism, single nucleotide (14) 14
analysis (13) 13
genomics (13) 13
genes (12) 12
infant, newborn (11) 11
physiological aspects (11) 11
risk factors (11) 11
alleles (10) 10
diagnosis (10) 10
health aspects (10) 10
pedigree (10) 10
phenotypes (10) 10
young adult (10) 10
genetic predisposition to disease (9) 9
haplotypes (9) 9
medical research (9) 9
animals (8) 8
exome (8) 8
exome sequencing (8) 8
genomes (8) 8
genotype (8) 8
patients (8) 8
whole exome sequencing (8) 8
base sequence (7) 7
cohort studies (7) 7
genetic disorders (7) 7
genetic research (7) 7
hematology (7) 7
amino acid sequence (6) 6
anemia, sickle cell - genetics (6) 6
care and treatment (6) 6
deoxyribonucleic acid--dna (6) 6
hypotonia (6) 6
medicine, experimental (6) 6
middle aged (6) 6
proteins (6) 6
sequence analysis, dna (6) 6
sickle cell anemia (6) 6
allelomorphism (5) 5
biochemistry & molecular biology (5) 5
child development deviations (5) 5
children (5) 5
developmental disabilities (5) 5
developmental disabilities - genetics (5) 5
dna sequencing (5) 5
gene mutations (5) 5
gene sequencing (5) 5
genetic association studies (5) 5
intellectual disability (5) 5
magnetic resonance imaging (5) 5
pathogenesis (5) 5
research article (5) 5
seizures (5) 5
usage (5) 5
whole-exome sequencing (5) 5
african continental ancestry group - genetics (4) 4
age (4) 4
bioinformatics (4) 4
case-control studies (4) 4
chromosomes (4) 4
congenital defects (4) 4
congenital diseases (4) 4
congenital heart disease (4) 4
correction (4) 4
disease (4) 4
dna methylation (4) 4
drosophila (4) 4
epilepsy (4) 4
exons (4) 4
fetal hemoglobin (4) 4
fibroblasts (4) 4
further section (4) 4
gene expression (4) 4
genetic diversity (4) 4
genetic variation - genetics (4) 4
genome-wide association study (4) 4
hemic and lymphatic diseases (4) 4
homozygote (4) 4
immunology (4) 4
intellectual disability - genetics (4) 4
internal medicine (4) 4
medicine (4) 4
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of medical case reports, ISSN 1752-1947, 01/2019, Volume 13, Issue 1, pp. 10 - 10
...Author(s): Angela E. Rankine-Mullings[sup.2], Graham Serjeant[sup.1], Zachary Ramsay[sup.2], Neil A. Hanchard[sup.3] and Monika Asnani[sup.2] Introduction... 
Blue eyes | Deafness | Waardenburg-Shah syndrome | Sickle cell disease | Constipation | Care and treatment | Usage | Genetic aspects | Sickle cell anemia | Medical screening | Genetic screening | Genetic disorders | Congenital diseases | Baldness | Family medical history | Hearing impairment | Medical diagnosis | Patients | Genotype & phenotype | Pain | Alopecia | Hemoglobin | Leg ulcers | Mutation | Age | Index Medicus
Journal Article
by Shashi, Vandana and Schoch, Kelly and Spillmann, Rebecca and Cope, Heidi and Tan, Queenie K.-G and Walley, Nicole and Pena, Loren and McConkie-Rosell, Allyn and Jiang, Yong-Hui and Stong, Nicholas and Need, Anna C and Goldstein, David B and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Lau, C. Christopher and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Genetics in medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Journal Article
Journal Article
Genetics (Austin), ISSN 1943-2631, 09/2017, Volume 207, Issue 1, pp. 9 - 27
Journal Article
JAMA pediatrics, ISSN 2168-6203, 10/2017, Volume 171, Issue 12, pp. e173438 - e173438
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2011, Volume 48, Issue 5, pp. 299 - 307
Journal Article
by Marcogliese, Paul C and Shashi, Vandana and Spillmann, Rebecca C and Stong, Nicholas and Rosenfeld, Jill A and Koenig, Mary Kay and Martínez-Agosto, Julián A and Herzog, Matthew and Chen, Agnes H and Dickson, Patricia I and Lin, Henry J and Vera, Moin U and Salamon, Noriko and Graham, John M and Ortiz, Damara and Infante, Elena and Steyaert, Wouter and Dermaut, Bart and Poppe, Bruce and Chung, Hyung-Lok and Zuo, Zhongyuan and Lee, Pei-Tseng and Kanca, Oguz and Xia, Fan and Yang, Yaping and Smith, Edward C and Jasien, Joan and Kansagra, Sujay and Spiridigliozzi, Gail and El-Dairi, Mays and Lark, Robert and Riley, Kacie and Koeberl, Dwight D and Golden-Grant, Katie and Callens, Steven and Coucke, Paul and Dermaut, Bart and Hemelsoet, Dimitri and Poppe, Bruce and Steyaert, Wouter and Terryn, Wim and Van Coster, Rudy and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dillon, Ani and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Ferreira, Carlos and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and ... and Program for Undiagnosed Diseases (UD-PrOZA) and Undiagnosed Diseases Network and Undiagnosed Dis Network and Program Undiagnosed Dis UD-PrOZA
American journal of human genetics, ISSN 0002-9297, 08/2018, Volume 103, Issue 2, pp. 245 - 260
Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological... 
CG11138 | ataxia | Drosophila | neurodegeneration | seizures | C3HC4 RING finger | developmental regression | pits | EAP1 | hypotonia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Physiological aspects | Nervous system | Development and progression | Genetic aspects | Degeneration | Research | Binding proteins
Journal Article