X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (5388) 5388
Publication (486) 486
Book Review (303) 303
Book Chapter (23) 23
Conference Proceeding (7) 7
Dissertation (3) 3
Data Set (1) 1
Magazine Article (1) 1
Web Resource (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (4950) 4950
frameshift mutation (4080) 4080
humans (3854) 3854
mutation (2192) 2192
female (2181) 2181
male (2147) 2147
genetics & heredity (1592) 1592
base sequence (1584) 1584
molecular sequence data (1424) 1424
genetic aspects (1253) 1253
adult (1150) 1150
pedigree (1015) 1015
dna mutational analysis (965) 965
phenotype (908) 908
animals (892) 892
genes (883) 883
sequence deletion (870) 870
amino acid sequence (829) 829
biochemistry & molecular biology (818) 818
gene (808) 808
frameshift mutation - genetics (719) 719
child (709) 709
middle aged (708) 708
research (682) 682
polymerase chain reaction (662) 662
genetics (656) 656
exons (650) 650
gene mutations (630) 630
gene deletion (609) 609
dna (570) 570
adolescent (566) 566
proteins (557) 557
expression (526) 526
analysis (516) 516
point mutation (509) 509
child, preschool (494) 494
mutations (483) 483
oncology (474) 474
mutation, missense (462) 462
identification (453) 453
sequence analysis, dna (444) 444
alleles (439) 439
mice (413) 413
genotype (406) 406
heterozygote (394) 394
aged (390) 390
genetic research (376) 376
infant (376) 376
multidisciplinary sciences (360) 360
cell biology (359) 359
codon, nonsense (350) 350
cancer (348) 348
research article (345) 345
protein (340) 340
exons - genetics (324) 324
abridged index medicus (317) 317
mutagenesis (317) 317
deletion (315) 315
gene expression (314) 314
microsatellite instability (307) 307
frameshift mutations (298) 298
escherichia-coli (294) 294
family (293) 293
genomics (289) 289
article (286) 286
homozygote (281) 281
genomes (280) 280
hematology (276) 276
deoxyribonucleic acid--dna (266) 266
disease (265) 265
polymorphism, single-stranded conformational (252) 252
escherichia coli - genetics (248) 248
transcription factors - genetics (246) 246
health aspects (245) 245
physiological aspects (243) 243
dna repair (242) 242
dna-binding proteins - genetics (237) 237
endocrinology & metabolism (236) 236
codon (231) 231
diagnosis (231) 231
frameshift (230) 230
medicine (230) 230
tumors (229) 229
dna - genetics (220) 220
risk factors (216) 216
cells (212) 212
neurosciences (211) 211
mutation - genetics (207) 207
biotechnology & applied microbiology (206) 206
membrane proteins - genetics (204) 204
nonsense mutation (204) 204
rna, messenger - genetics (202) 202
sequence (200) 200
microbiology (196) 196
cell line (194) 194
young adult (192) 192
molecular biology (191) 191
genetic predisposition to disease (190) 190
polymorphism, genetic (189) 189
dna sequencing (186) 186
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (5358) 5358
Chinese (25) 25
Japanese (5) 5
French (3) 3
Dutch (2) 2
German (2) 2
Spanish (2) 2
Hebrew (1) 1
Hungarian (1) 1
Korean (1) 1
Polish (1) 1
Russian (1) 1
Slovak (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Journal Article
Journal Article
Medicine, ISSN 0025-7974, 09/2018, Volume 97, Issue 37, pp. e12295 - e12295
Rationale: Acute intermittent porphyria (AIP) is caused by hydroxymethylbilane synthase (HMBS) gene mutation. Patient concerns: A Chinese female patient with... 
DIAGNOSIS | MEDICINE, GENERAL & INTERNAL | acute intermittent porphyria | HMBS gene | hyponatremia | PORPHOBILINOGEN DEAMINASE GENE | GUIDELINES | STANDARDS | MUTATIONS | SIADH | frameshift mutation | Porphyria | Treatment outcome | Care and treatment | Usage | Gene mutations | Analysis | Pyrrole | Research | Diagnosis | Nucleotide sequencing | DNA sequencing | Index Medicus | Abridged Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 67 - 77
Journal Article
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 05/2017, Volume 64, Issue 5, pp. e26320 - n/a
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by oculocutaneous albinism and platelet dysfunction. We report on a novel... 
platelet disorder | mutation | Hermansky–Pudlak syndrome | bleeding | oculocutaneous albinism | Genetic Association Studies | Humans | Adenosine Triphosphate - secretion | Male | Microscopy, Electron | Sequence Analysis, DNA | Blood Platelets - secretion | Antineoplastic Agents - metabolism | Hermanski-Pudlak Syndrome - genetics | Flow Cytometry | Blood Platelets - cytology | Base Sequence | Quinacrine - metabolism | Adolescent | Female | Biological Transport - genetics | High-Throughput Nucleotide Sequencing | Child | Intracellular Signaling Peptides and Proteins - genetics | Frameshift Mutation - genetics | Tetraspanin 30 - secretion | Sequence Deletion - genetics | Thrombin | Quinacrine | Nucleotides | Nucleotide sequencing | DNA sequencing | Albinism | Microscopy | Rodents | Adolescence | Flow cytometry | Correlation | Impairment | Parents | Immunoblotting | Risk | Activation | Gene deletion | Birth | Hermansky-Pudlak syndrome | Blood | Bleeding | Gene sequencing | Clonal deletion | Surgery | Genetic analysis | Deletion | Children | Adolescents | Adenosine triphosphate | Siblings | CD63 antigen | Secretion | Management | Electron microscopy | Organelles | Trauma | Blood flow | Flow | Cytometry | Transmission electron microscopy | Granular materials | Granules | Platelets | Immunofluorescence | Compatibility | Index Medicus
Journal Article
European Heart Journal, ISSN 0195-668X, 01/2017, Volume 38, Issue 1, pp. 27 - 34
Journal Article
by Brioschi, A and Gaillard, M and Männik, K and Giusti, V and Palta, P and Kurg, A and Froguel, P and Touraine, R and Walters, R. G and Malan, V and Waeber, G and Ambresin, A.-E and Sanlaville, D and de Smith, A. J and van Haelst, M. M and Béri-Dexheimer, M and Bochukova, E. G and Metspalu, A and Ferrarini, A and Stutzmann, F and Chiesa, J and Beckmann, J. S and Leheup, B and Elliott, P and David, A and El-Sayed Moustafa, J. S and unap, K and Waterworth, D and Campion, D and Vollenweider, P and Hartikainen, A.-L and Chen, F and Caiazzo, R and Holder-Espinasse, M and Mandel, J.-L and Goldenberg, A and Andrieux, J and McCarthy, M. I and Pattou, F and Peltonen, L and Jacobson, P and Mooser, V and Jonveaux, P and MacDermot, K. D and Walley, A. J and Martinet, D and Huang, N and Dupuis-Girod, S and Bouquillon, S and Labalme, A and Bergmann, S and Sjöström, L and Vatin, V and Esko, T and Fellmann, F and Balkau, B and Delobel, B and Andersson, J and Isidor, B and Mathieu-Dramard, M and Blakemore, A. I. F and Lemaitre, M.-P and Cordier, M.-P and Philippe, A and Hurles, M. E and Henning, E and Carlsson, L and Hadjikhani, N and Sladek, R and Boute, O and Meyre, D and Coin, L. J. M and O'Rahilly, S and Kooy, R. F and Farooqi, I. S and Jarvelin, M.-R and Guilmatre, A and Keogh, J and Chèvre, J.-C and Falchi, M and Buxton, J. L and Jacquemont, S and Vincent-Delorme, C and Le Caignec, C and Cuisset, J.-M and Ellis, R. J and Plessis, G and Lobbens, S and Nelis, M and Reymond, A and Valsesia, A and Pigeyre, M and Lecoeur, C and Calmels, N and Blaumeiser, B and Sahlgrenska akademin and Institute of Medicine, Department of Molecular and Clinical Medicine and Institutionen för medicin, avdelningen för molekylär och klinisk medicin and Göteborgs universitet and Gothenburg University and Sahlgrenska Academy
Nature, ISSN 0028-0836, 02/2010, Volume 463, Issue 7281, pp. 671 - 675
Journal Article