X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (8) 8
index medicus (8) 8
mutation (7) 7
female (6) 6
genetics & heredity (6) 6
male (6) 6
child, preschool (4) 4
phenotype (4) 4
sequence analysis, dna (4) 4
article (3) 3
boycotts (3) 3
child (3) 3
gene expression (3) 3
genomics (3) 3
pedigree (3) 3
adult (2) 2
ataxia (2) 2
cerebellar ataxia (2) 2
cerebellar ataxia - genetics (2) 2
diagnosis (2) 2
disease (2) 2
genetic aspects (2) 2
genetic disorders (2) 2
genetics (2) 2
homozygote (2) 2
intellectual disability - genetics (2) 2
microcephaly - genetics (2) 2
molecular sequence data (2) 2
mutation - genetics (2) 2
mutations (2) 2
next-generation sequencing (2) 2
research (2) 2
abnormalities, multiple - diagnosis (1) 1
abnormalities, multiple - genetics (1) 1
abnormalities, multiple - pathology (1) 1
acid (1) 1
acid ceramidase - blood (1) 1
acid ceramidase - genetics (1) 1
adolescent (1) 1
age (1) 1
algorithms (1) 1
alleles (1) 1
amino acid motifs (1) 1
amino acid sequence (1) 1
amino acid substitution (1) 1
analysis (1) 1
animals (1) 1
articles (1) 1
asah1 (1) 1
atrophy (1) 1
axoneme - genetics (1) 1
axons - pathology (1) 1
beat pattern (1) 1
binding sites (1) 1
biochemistry & molecular biology (1) 1
biological transport - genetics (1) 1
blindness - genetics (1) 1
blood (1) 1
blood-stream forms (1) 1
body height - genetics (1) 1
cell cycle proteins - genetics (1) 1
cell line (1) 1
cellular biology (1) 1
cerebellar atrophy (1) 1
cerebellar-ataxia (1) 1
cerebellum (1) 1
charcot-marie tooth disease (1) 1
charcot-marie-tooth disease (1) 1
charcot-marie-tooth disease - genetics (1) 1
charcot-marie-tooth disease - physiopathology (1) 1
charcot–marie–tooth disease (1) 1
chlamydomonas - genetics (1) 1
choanal atresia (1) 1
cilia (1) 1
cilia - genetics (1) 1
ciliopathies (1) 1
clinical management (1) 1
clinical neurology (1) 1
clonal deletion (1) 1
cognitive ability (1) 1
complex (1) 1
congenital non-progressive spinocerebellar ataxia (1) 1
consanguinity (1) 1
cpg islands (1) 1
cpg methylation array (1) 1
databases (1) 1
databases, genetic (1) 1
deafness (1) 1
dementia (1) 1
dephosphorylation (1) 1
diamond-blackfan anemia (1) 1
disease-gene association (1) 1
disease-gene discovery (1) 1
disease‐gene association (1) 1
disease‐gene discovery (1) 1
disruption (1) 1
dna methylation (1) 1
dna sequencing (1) 1
dna-binding proteins - genetics (1) 1
dna-methyltransferase 1 (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Human Molecular Genetics, ISSN 0964-6906, 2015, Volume 24, Issue 22, pp. 6293 - 6300
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2018, Volume 178, Issue 4, pp. 458 - 463
For years, the genetics community has estimated the number of individual rare genetic diseases to be approximately 6,000–8,000. A commonly quoted derivation of... 
disease‐gene discovery | rare disease | Mendelian disease | unsolved | disease‐gene association | OMIM | disease-gene association | disease-gene discovery | GENETICS & HEREDITY | Genetics | Heredity | Etiology | Genetic analysis | Textbooks
Journal Article
Human Mutation, ISSN 1059-7794, 06/2017, Volume 38, Issue 6, pp. 611 - 614
Journal Article
Nature Communications, ISSN 2041-1723, 01/2015, Volume 6, Issue 1, pp. 5614 - 5614
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2018, Volume 103, Issue 5, pp. 727 - 739
Journal Article
Human Mutation, ISSN 1059-7794, 02/2016, Volume 37, Issue 2, pp. 148 - 154
Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss,... 
EFTUD2 | microcephaly | mandibulofacial dysostosis Guion‐Almeida type | mandibulofacial dysostosis | MFDM | mandibulofacial dysostosis with microcephaly | Mandibulofacial dysostosis with microcephaly | Microcephaly | Mandibulofacial dysostosis Guion-Almeida type | Mandibulofacial dysostosis | mandibulofacial dysostosis Guion-Almeida type | ESOPHAGEAL ATRESIA | COMPLEX | PROTEIN | MENTAL-RETARDATION | TREACHER-COLLINS-SYNDROME | PHENOTYPES | EFTUD2 MUTATIONS | HAPLOINSUFFICIENCY | SNRNP | CHOANAL ATRESIA | GENETICS & HEREDITY | Abnormalities, Multiple - pathology | Hearing Loss - diagnosis | Microcephaly - genetics | Spliceosomes - genetics | Humans | Mandibulofacial Dysostosis - pathology | Databases, Genetic | Molecular Sequence Data | Ribonucleoprotein, U5 Small Nuclear - genetics | Intellectual Disability - genetics | Mandibulofacial Dysostosis - genetics | RNA Splicing | Mandibulofacial Dysostosis - diagnosis | Microcephaly - pathology | Peptide Elongation Factors - genetics | Abnormalities, Multiple - genetics | Protein Structure, Tertiary | Gene Expression | Protein Structure, Secondary | Intellectual Disability - pathology | Microcephaly - diagnosis | Models, Molecular | Penetrance | Hearing Loss - pathology | Amino Acid Motifs | Haploinsufficiency | Hearing Loss - genetics | Phenotype | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Mutation | Boycotts | Databases | Lubrication and lubricants | Genomics | Genetic disorders | Index Medicus
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 06/2017, Volume 12, Issue 1, pp. 121 - 121
Journal Article
No results were found for your search.

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