X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (121) 121
male (91) 91
female (82) 82
genetics & heredity (50) 50
pedigree (47) 47
adult (35) 35
child (35) 35
mutation (32) 32
child, preschool (29) 29
phenotype (26) 26
adolescent (25) 25
index medicus (23) 23
infant (21) 21
genetic aspects (19) 19
syndrome (19) 19
consanguinity (17) 17
infant, newborn (17) 17
dna mutational analysis (16) 16
genetics (16) 16
genetic linkage (15) 15
chromosome mapping (14) 14
israel (14) 14
pediatrics (14) 14
gene (13) 13
genetic markers (13) 13
middle aged (13) 13
jews - genetics (12) 12
pregnancy (12) 12
research (12) 12
genes, recessive (11) 11
genotype (11) 11
molecular sequence data (11) 11
abnormalities, multiple - genetics (10) 10
animals (10) 10
gene mutations (10) 10
genetic predisposition to disease (10) 10
mental retardation (10) 10
prenatal diagnosis (10) 10
base sequence (9) 9
diagnosis (9) 9
genetic carrier screening (9) 9
mice (9) 9
autosomal recessive inheritance (8) 8
biochemistry & molecular biology (8) 8
deafness (8) 8
genetic disorders (8) 8
haplotypes (8) 8
hearing loss (8) 8
israel - epidemiology (8) 8
jews (8) 8
mutations (8) 8
polymerase chain reaction (8) 8
analysis (7) 7
ataxia telangiectasia - genetics (7) 7
biochemistry (7) 7
chromosome deletion (7) 7
heterozygote (7) 7
risk factors (7) 7
alleles (6) 6
amino acid sequence (6) 6
cells (6) 6
disease (6) 6
dna (6) 6
exons (6) 6
genes (6) 6
genes, dominant (6) 6
hepatolenticular degeneration - genetics (6) 6
in situ hybridization, fluorescence (6) 6
intellectual disability - genetics (6) 6
lod score (6) 6
microcephaly (6) 6
schizophrenia (6) 6
aged (5) 5
cataract - genetics (5) 5
chemistry (5) 5
children (5) 5
diseases (5) 5
gene deletion (5) 5
gene expression (5) 5
genetic testing (5) 5
identification (5) 5
immunology (5) 5
linkage (5) 5
medicine, general & internal (5) 5
microcephaly - genetics (5) 5
missense mutation (5) 5
otorhinolaryngologic diseases (5) 5
physiological aspects (5) 5
protein (5) 5
proteins (5) 5
proteins - genetics (5) 5
research article (5) 5
short stature (5) 5
transcription factors - genetics (5) 5
aircraft (4) 4
arrangements or mounting of power plants or propulsiontransmissions in aircraft (4) 4
article (4) 4
ataxia telangiectasia mutated proteins (4) 4
aviation (4) 4
beer (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 Clinical Investigation, ISSN 0021-9738, 02/2013, Volume 123, Issue 2, pp. 740 - 750
Journal Article
世界胃肠病学杂志:英文版(电子版), ISSN 1007-9327, 2014, Volume 20, Issue 46, pp. 17656 - 17660
Wilson’s disease(WD)is an autosomal recessive inherited disorder of hepatic copper metabolism.WD can be present in different clinical conditions,with the most... 
Late | disease | ATP7B | gene | onset | m | Wilson’s | Fulminant | Wilson’s disease | Copper | ATP7B gene mutations | Late onset | Case Report
Journal Article
by Rojnueangnit, Kitiwan and Xie, Jing and Gomes, Alicia and Sharp, Angela and Callens, Tom and Chen, Yunjia and Liu, Ying and Cochran, Meagan and Abbott, Mary‐Alice and Atkin, Joan and Babovic‐Vuksanovic, Dusica and Barnett, Christopher P and Crenshaw, Melissa and Bartholomew, Dennis W and Basel, Lina and Bellus, Gary and Ben‐Shachar, Shay and Bialer, Martin G and Bick, David and Blumberg, Bruce and Cortes, Fanny and David, Karen L and Destree, Anne and Duat‐Rodriguez, Anna and Earl, Dawn and Escobar, Luis and Eswara, Marthanda and Ezquieta, Begona and Frayling, Ian M and Frydman, Moshe and Gardner, Kathy and Gripp, Karen W and Hernández‐Chico, Concepcion and Heyrman, Kurt and Ibrahim, Jennifer and Janssens, Sandra and Keena, Beth A and Llano‐Rivas, Isabel and Leppig, Kathy and McDonald, Marie and Misra, Vinod K and Mulbury, Jennifer and Narayanan, Vinodh and Orenstein, Naama and Galvin‐Parton, Patricia and Pedro, Helio and Pivnick, Eniko K and Powell, Cynthia M and Randolph, Linda and Raskin, Salmo and Rosell, Jordi and Rubin, Karol and Seashore, Margretta and Schaaf, Christian P and Scheuerle, Angela and Schultz, Meredith and Schorry, Elizabeth and Schnur, Rhonda and Siqveland, Elizabeth and Tkachuk, Amanda and Tonsgard, James and Upadhyaya, Meena and Verma, Ishwar C and Wallace, Stephanie and Williams, Charles and Zackai, Elaine and Zonana, Jonathan and Lazaro, Conxi and Claes, Kathleen and Korf, Bruce and Martin, Yolanda and Legius, Eric and Messiaen, Ludwine
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1052 - 1063
Journal Article
Human mutation, ISSN 1059-7794, 2014, Volume 35, Issue 7, pp. 779 - 790
Journal Article
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 4/2016, Volume 36, Issue 3, pp. 220 - 234
Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological... 
type I interferon | Medical Microbiology | Biomedicine | Immunology | tartrate-resistant acid phosphatase (TRAP) | Infectious Diseases | Internal Medicine | ACP5 | interferon signature | SPENCD/SPENCDI | Spondyloenchondrodysplasia | RNASEH2A | CEREBRAL CALCIFICATIONS | PHENOTYPES | IMMUNOLOGY | DEFICIENCY | IMMUNE DYSREGULATION | ENCHONDROMATOSIS | SPONDYLOMETAPHYSEAL DYSPLASIA | AUTOIMMUNITY | EXPRESSION SIGNATURE | IMMUNODEFICIENCY | Bone and Bones - pathology | Osteochondrodysplasias - pathology | Purpura, Thrombocytopenic, Idiopathic - genetics | Intellectual Disability - immunology | Humans | Child, Preschool | Male | Autoantibodies - biosynthesis | Interferon Type I - immunology | Intellectual Disability - genetics | Autoimmune Diseases - genetics | Osteochondrodysplasias - genetics | Purpura, Thrombocytopenic, Idiopathic - immunology | Purpura, Thrombocytopenic, Idiopathic - pathology | Lupus Erythematosus, Systemic - immunology | Adult | Female | Tartrate-Resistant Acid Phosphatase - immunology | Autoimmune Diseases - pathology | Child | Gene Expression | Osteochondrodysplasias - immunology | Autoimmune Diseases - immunology | Intellectual Disability - pathology | Genotype | Phenotype | Pedigree | Lupus Erythematosus, Systemic - genetics | Adolescent | Alleles | Brain - pathology | Interferon Type I - genetics | Bone and Bones - immunology | Mutation | Tartrate-Resistant Acid Phosphatase - deficiency | Tartrate-Resistant Acid Phosphatase - genetics | Brain - immunology | Lupus Erythematosus, Systemic - pathology | Autoimmunity | SPENCDI | Original | SPENCD
Journal Article
Journal Article
Journal of Basic and Clinical Physiology and Pharmacology, ISSN 0792-6855, 09/2014, Volume 25, Issue 3, pp. 289 - 292
Connexin 26 (GJB2) mutations are associated with various types of hearing loss, either without associated symptoms or with skin disease, constituting a form of... 
Cochlea | Cx26 | GJB2 | Hearing impairment | Hearing loss | Connexin 26 | Genetic Predisposition to Disease | Phenotype | Deafness - genetics | Genetic Association Studies | Pedigree | Humans | Connexins - genetics | Female | Male | Mutation | hearing impairment | cochlea | hearing loss
Journal Article
Journal Article
Journal Article