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(Click for frequent words.) 76 chromosomal abnormalities 74 genetic mutations 72 genetic defects 72 gene mutations 69 mutations 68 chromosome abnormalities 67 genetic alterations 67 chromosomal disorders 66 inherited mutations 66 aneuploidy 66 mutated genes 66 aneuploidies 66 genetic variations 65 chromosome abnormality 65 gene mutation 65 genetic disorders 65 mtDNA mutations 65 mutation 64 susceptibility genes 64 developmental abnormalities 64 genetic abnormality 64 chromosomal anomalies 64 spontaneous mutations 64 genetic mutation 63 mitochondrial dysfunction 63 abnormalities 63 epigenetic changes 63 de novo mutations 63 microdeletions 63 BRCA1 gene 63 genetic defect 62 microdeletion 62 HNPCC 62 mutant genes 62 genetic variants 62 chromosomal alterations 62 BRCA2 gene 62 chromosomal defect 62 gene variants 62 molecular abnormalities 62 somatic mutations 62 congenital anomalies 62 hereditary breast cancer 62 chromosomal abnormality 62 recurrent miscarriages 61 chromosomal anomaly 61 sporadic ALS 61 mutated gene 61 chromosomal instability 61 chromosomal defects 61 malformations 61 mosaicism 61 causative gene 61 germline mutations 61 NF1 61 ovarian tumors 61 chromosomal aberrations 61 CHD7 61 chromosomal rearrangement 61 defective gene 60 susceptibility gene 60 spontaneous mutation 60 Meckel Gruber 60 epigenetic alterations 60 congenital disorders 60 BRCA1 mutations 60 neural tube defect 60 familial ALS 60 LQTS 60 mitochondrial mutations 60 mitochondrial disorders 60 medulloblastomas 60 familial adenomatous polyposis 60 genetic syndromes 60 IgA deficiency 60 holoprosencephaly 59 congenital abnormalities 59 breast cancer susceptibility genes 59 nonsense mutations 59 trisomy 59 chromosomal rearrangements 59 pathogenic mutations 59 MSH2 59 HbF 59 CFTR gene 59 genetic 59 recessive genes 59 chromosomal translocations 59 PTEN mutations 59 G#S mutation 59 imprinted genes 59 chromosome rearrangements 59 genes 59 Fanconi anemia 59 gene expression patterns 59 DNA methylation 59 genetic markers 59 MCAD deficiency 59 genetic susceptibility 59 Li Fraumeni syndrome 59 gene rearrangements 59 LRRK2 gene 59 genes BRCA1 59 FTLD 58 fetal aneuploidy 58 mammary cells 58 BRCA mutation 58 BRCA genes 58 BRCA mutations 58 mitochondrial diseases 58 abnormal chromosomes 58 premature menopause 58 methylation 58 epigenetic 58 BRCA2 mutation 58 malignant transformation 58 hereditary disorders 58 thrombophilia 58 genomic instability 58 endometrial cancers 58 IKZF1 58 PTPN# 58 neuroblastomas 58 CNVs 58 hypermethylation 58 chromosome aberrations 58 causal variants 58 familial pancreatic cancer 58 atypical hyperplasia 58 BRAF gene 58 MGUS 58 alleles 57 sCJD 57 persistent pulmonary hypertension 57 neurodevelopmental disorders 57 Peutz Jeghers syndrome 57 p# mutations 57 DNA methylation patterns 57 genetic variation 57 genomewide 57 recessive mutations 57 homozygosity 57 epigenetic modification 57 prion infection 57 iPSCs 57 hereditary diseases 57 abnormal growths 57 APOL1 57 genetic alteration 57 BRCA2 gene mutations 57 chromosomal disorder 57 Genetic variants 57 somatic mutation 57 missense mutations 57 inherited predisposition 57 micro RNAs 57 Joubert syndrome 57 JAK mutations 57 breast cancer genes BRCA1 57 HLA genes 57 causative genes 57 NF2 57 genomic alterations 57 Rh incompatibility 57 monogenic 57 hereditary predisposition 57 TGFBR1 * 6A 57 genomic variants 57 Genetic predisposition 57 CDH1 57 BARD1 57 HGPS 57 Kufs disease 57 chromosome translocations 57 birth defects 57 cancers 57 miRNA genes 57 BRCA2 mutations 57 genetically inherited 56 basal cell nevus syndrome 56 neurodevelopmental disorder 56 premature ovarian 56 gene expression profiles 56 genetic variants associated 56 ASDs 56 aneuploid 56 Tay Sachs disease 56 beta thalassemia 56 congenital malformations 56 monozygotic twins 56 ADPKD 56 fetal malformations 56 #q#.# [001] 56 Beckwith Wiedemann syndrome 56 phenotypes 56 leukaemias 56 medulloblastoma 56 mutant gene 56 pilocytic astrocytomas 56 brain lesions 56 DiGeorge syndrome 56 epigenetic markers 56 Fragile X gene 56 genomic imprinting 56 Genetic mutations 56 achromatopsia 56 neurodegenerative disorder 56 Li Fraumeni 56 myotonic dystrophy 56 recurrent miscarriage 56 genetic aberrations 56 MECP2 gene 56 colorectal cancer CRC 56 NAFLD 56 epigenetic mechanisms 56 germline cells 56 CHDs 56 fetal abnormalities 56 MLH1 56 maternally inherited 56 FGFR2 56 hamartomas 56 TCF#L# gene 56 CNTNAP2 56 prognostic markers 56 gene fusions 56 TP# mutations 56 G6PD deficiency 56 autism susceptibility genes 56 LIS1 56 endostatin 56 teratoma 56 preterm deliveries 56 BRCA1 56 MYCN amplification 56 genetic polymorphisms 56 systemic amyloidosis 56 BRAF mutation 56 causative mutation 56 noncoding RNAs 55 MTHFR 55 protein misfolding 55 PARP inhibition 55 p# mutation 55 FMR1 gene 55 #q#.# [002] 55 inheritable diseases 55 APOE gene 55 ALK mutations 55 Mitochondrial diseases 55 JAK2 mutation 55 genomic rearrangements 55 IUGR 55 aneuploid cells 55 ependymoma 55 TACI mutations 55 SNPs 55 muscular dystrophies 55 huntingtin gene 55 mitochondrial DNA mutations 55 FMRP protein 55 mRNA transcripts 55 splice junctions 55 GBA mutations 55 VHL gene 55 IVF embryos 55 BRCA1 mutation 55 APOE4 55 haematopoietic 55 Apert syndrome 55 penetrance 55 chromosomal deletions 55 hereditary hemochromatosis 55 filaggrin 55 diagnostic biomarker 55 mammary tumors 55 GBM tumors 55 ovarian hyperstimulation 55 transfusion syndrome 55 chromosomally normal 55 genes predisposing 55 genetic imprinting 55 recessive trait 55 pre cancerous polyps 55 heterotaxy 55 curable cancers 55 hydrops 55 TP# mutation 55 bowel cancers 55 autoantibodies 55 SOD1 gene 55 motor neuron degeneration 55 microRNA expression 55 unexplained infertility 55 mammary cancers 55 APOE e4 55 aneuploidy screening 55 genetic loci 55 herpesviruses 55 breast cancer metastasis 55 methylation patterns 55 miRNA expression 55 autosomal recessive 55 clefting 55 polymorphisms 55 chorionic villus sampling 55 genetic predisposition 55 autosomal dominant inheritance 55 genetic rearrangements 55 chromosomal 55 mutated BRCA1 55 familial adenomatous polyposis FAP 55 chimerism 55 neurofibromas 55 genetic disorder 55 malformation 55 genomic deletions 55 promoter hypermethylation 55 chromosomal imbalance 55 Hurler syndrome 55 autosomal recessive disease 55 Folic acid deficiency 55 molecular markers 55 microsatellite instability 55 DNA rearrangements 54 gene 54 precursor lesions 54 incidentalomas 54 HMGA2 54 prenatal diagnosis 54 INF2 54 germ cells 54 tumor suppressor genes 54 phenotypic variation 54 LKB1 54 malignancies 54 lysosomal storage diseases 54 fetal chromosomal abnormalities 54 MYH9 gene 54 CHEK2 54 hemochromatosis 54 pluripotent cells 54 microcephalin 54 epigenetic modifications 54 breast carcinomas 54 galactosemia 54 mutant alleles 54 array CGH 54 unexplained mental retardation 54 mutant protein 54 methylation markers 54 microRNA molecules 54 karyotypes 54 environmental toxicants 54 mesotheliomas 54 MCADD 54 intestinal polyps 54 hemolytic disease 54 colorectal neoplasia 54 Dravet syndrome 54 phthalate exposure 54 myeloproliferative neoplasms 54 lysosomal diseases 54 adenomatous polyps 54 acute lymphoid leukemia 54 Velculescu 54 mitochondrial disease 54 nucleotide substitutions 54 dyskeratosis congenita 54 epigenomes 54 modifier genes 54 congenital hypothyroidism 54 primordial germ cells 54 egg follicles 54 progranulin 54 Epstein Barr virus EBV 54 BRCA2 carriers 54 activating mutations 54 MYH9 54 BRCA2 gene mutation 54 Genetic variations 54 prion disease 54 LRRK2 mutations 54 NGAL 54 underlying molecular mechanisms 54 chromosomally abnormal 54 chromosomal regions 54 MAPCs 54 IGF2 54 Klinefelter syndrome 54 TP# gene 54 tumors 54 untreated celiac disease 54 prenatally diagnosed 54 luminal cells 54 atherosclerotic lesions 54 genetic variant 54 exome sequencing 54 testicular germ cell 54 cardiac channelopathies 54 gene expression 54 neurodevelopmental 54 ApoE4 gene 54 epigenetic marks 54 ZNF# 54 Chromosomal abnormalities 54 diagnosed prenatally 54 FGFR3 54 pre malignant lesions 54 genomewide association studies 54 primary biliary cirrhosis 54 SORL1 54 Trisomy 54 cybrids 54 miRNAs 54 deleterious mutations 54 parthenogenetic 54 diagnosis PGD 54 BRAC2 54 iPS cell 54 chromosomal aberration 54 shortened telomeres 54 nonhereditary 54 Hashimoto thyroiditis 54 FLT3 54 benign growths 54 epigenetic silencing 54 WT1 54 primary ovarian insufficiency 54 undiagnosed celiac disease 53 germline mutation 53 faulty BRCA1 gene 53 iPS cells 53 5q deletion 53 FXTAS 53 Hirschsprung disease 53 blastomeres 53 primary cilia 53 alpha thalassemia 53 KIBRA 53 testicular tumors 53 cystatin C 53 tumor suppressor gene 53 ectopic pregnancies 53 BRCA2 breast cancer 53 KRAS oncogene 53 generalized vitiligo 53 premalignant 53 BCL#A 53 PICALM 53 polycystic ovary syndrome 53 Mendelian diseases 53 PALB2 53 de ath 53 microchimerism 53 XMRV infection 53 prenatally 53 placenta praevia 53 genetic polymorphism 53 presymptomatic 53 AAT deficiency 53 EBV infection 53 basal cell carcinomas 53 neurological abnormalities 53 malignant lesions 53 reproductive abnormalities 53 chromosomal mutations 53 shRNAs 53 colon tumors 53 nerve degeneration 53 abnormal prions 53 mesenchymal cells 53 Angelman syndrome 53 virulence genes 53 mitochondrial DNA 53 IDH1 53 transcriptional repression 53 chimeric mice 53 GFP gene 53 autosomal 53 autistic traits 53 TOMM# 53 cardiac hypertrophy 53 FMR1 53 LRAT 53 heritable 53 embryo biopsy 53 phenotype 53 inherited genetic mutations 53 Foxp3 53 bronchopulmonary dysplasia 53 embryonal 53 Malignant tumors 53 hormonal abnormalities 53 ataxias 53 KIT mutations 53 frontotemporal dementia 53 intrauterine infection 53 astrocytomas 53 Brugada syndrome 53 CGG repeats 53 phenotypic variability 53 narcolepsy cataplexy 53 prostate adenocarcinoma 53 FGFR2 gene 53 lung adenocarcinoma 53 JAK2 gene 53 neural crest 53 molecular biomarkers 53 gene variant 53 Colon polyps 53 spontaneously regress 53 #q# deletion 53 hypertrophic cardiomyopathy HCM 53 congenital anomaly 53 hereditary disorder 53 hypermethylated 53 MEF2A 53 toxoplasmosis 53 precocious puberty 53 hereditary deafness 53 NR#A# gene 53 male infertility 53 T. gondii 53 brain malformation 53 degenerative neurological diseases 53 CYP#B# 53 #q# [001] 53 colorectal polyps 53 IDH2 53 OGG1 53 inherited genetic mutation 53 BRIP1 53 Imprinted genes 53 mitochondrial defects 53 onset Alzheimer disease 53 gestational diabetes mellitus 53 Rb gene 53 Fragile X Syndrome 53 neuropsychiatric disorder 53 beta1 integrin 53 progranulin gene 53 APOE ε4 53 amyloid deposition 53 spinocerebellar ataxia 53 mtDNA 53 Cytogenetic 53 Aneuploidy 52 proto oncogene 52 malignancy 52 BRCA2 52 germline stem cells 52 testicular biopsy 52 IDH mutations 52 proband 52 mutant huntingtin protein 52 dizygotic twins 52 polyhydramnios 52 dominantly inherited 52 genetic determinants 52 pancreatic endocrine 52 dedifferentiation 52 p#INK#a 52 neural crest cells 52 CDKN2A 52 cystic fibrosis muscular dystrophy 52 autoinflammatory diseases 52 neurodegenerative disease 52 neural cells 52 p# activation 52 oncogenes 52 ARID1A 52 Severe Combined Immunodeficiency 52 enterovirus infection 52 myopathies 52 severe congenital neutropenia 52 leukaemic stem cells 52 genetic trait 52 chromosome #q#.# [001] 52 pre eclampsia 52 polycystic ovary syndrome PCOS 52 benign proliferative breast 52 RPE# 52 Pluripotent stem cells 52 Six3 52 heritable diseases 52 choriocarcinoma 52 lobular breast cancer 52 TEL AML1 52 ependymomas 52 anencephaly 52 GPC5 52 NNRTI resistance 52 BMPR2 52 meningiomas 52 metabolic abnormalities 52 poorer prognosis 52 microRNAs 52 epithelial tumors 52 neuroendocrine tumors 52 slow metabolizers 52 metastatic cancers 52 MDSCs 52 GATA4 52 colorectal tumors 52 NKX2 52 ductal breast cancer 52 preeclampsia 52 RhD negative 52 renal cell carcinomas 52 osteosarcomas 52 muscular dystrophy cystic fibrosis 52 long QT syndrome 52 gene amplification 52 neuroinflammation 52 genes BRCA 52 Kabuki syndrome 52 PIK3CA 52 dopamine transporter gene 52 leptin deficiency 52 mental retardation epilepsy 52 chorioamnionitis 52 Krabbe Disease 52 apolipoprotein E 52 exomes 52 fronto temporal dementia 52 biochemical abnormalities 52 paraganglioma 52 karyotyping 52 chorionic villi 52 nonmelanoma skin cancers 52 nucleotide variations 52 MLL2 52 breast cancers 52 chlamydial infection 52 bladder cancers 52 subclinical hyperthyroidism 52 basal cells 52 #q#.# deletion syndrome 52 von Hippel Lindau 52 nonsense mutation 52 single nucleotide polymorphism 52 KCNQ1 52 Skp2 52 fetal chromosomal 52 molecular pathways 52 Chlamydia pneumoniae 52 MeCP2 protein 52 BRCA gene 52 Pten 52 chronic granulomatous disease 52 granule cells 52 CCR3 52 tumor recurrence 52 developmental disorders 52 recessive genetic disorders 52 heterozygous 52 neoplastic 52 SLC#A# [002] 52 exfoliation glaucoma 52 genetic traits 52 BRCA1 BRCA2 52 molecular pathway 52 cyclin E 52 gene predisposing 52 liver scarring 52 Polymorphic Ventricular Tachycardia CPVT 52 glycosylation 52 microRNAs miRNAs 52 matriptase 52 neural crest stem cells 52 gene expression profiling 52 breast tumors 52 GRP# 52 KCNH2 52 behavioral abnormalities 52 benign polyps 52 subclinical atherosclerosis 52 mutant allele 52 placental function 52 premalignant lesions 52 germline 52 CALHM1 52 abnormal methylation 52 haemochromatosis 52 benign breast 52 ovarian hormones 52 malignant tumors 52 Prion diseases 52 mutant proteins 52 hematopoietic cells 52 splice variants 52 MeCP2 gene 52 medium chain acyl 52 Loeys Dietz syndrome 52 nestin 52 Cowden syndrome 52 recessive mutation 52 anemias 52 gene loci 52 CMV infection 52 promoter methylation 52 karyotype 52 cytogenetic 52 K ras mutations 52 STAT4 52 SMAD4 52 APOE e4 gene 52 diaphragmatic hernia 52 folate metabolism 52 HER2 gene 52 JMML 52 fatal neurodegenerative 52 histocompatibility 52 MC1R 52 LRRK2 52 ectopic 52 recessive genetic 52 hyperplastic 52 spontaneous remission 52 polycystic kidneys 52 Wilms tumor 52 miRNA 51 mutated K ras 51 atypia 51 thyroid dysfunction 51 organophosphate exposure 51 polyomavirus nephropathy 51 Tay Sachs thalassemia 51 congenital blindness 51 thoracic aortic disease 51 translocations 51 VUR 51 beta catenin protein 51 benign lesions 51 neuropsychiatric disorders 51 histone modification 51 congenital deafness 51 Cholangiocarcinoma 51 TYMS 51 bladder tumors 51 dopamine receptor gene 51 Genetic testing 51 Mendelian disorders 51 MC4R gene 51 Tay Sachs 51 intraventricular hemorrhage 51 KIF6 gene 51 histone modifications 51 amniocentesis 51 Spinal muscular atrophy 51 phthalate syndrome 51 pre cancerous 51 susceptibility loci 51 systemic scleroderma 51 GSTT1 51 methylated DNA 51 immunodeficiency 51 Vitamin B# deficiency 51 piRNAs 51 LVNC 51 ES cells 51 retinal degeneration 51 PGD 51 genotoxic stress 51 NF1 gene 51 fertilized egg splits 51 SIRT3 51 postnatally 51 #p#.# [002] 51 TTR gene 51 ovules 51 Ets2 51 sequence homology 51 BRCA1 mutation carriers 51 teratomas 51 beta globin gene 51 gene locus 51 lung adenocarcinomas 51 invasive carcinoma 51 palladin 51 UGT#B# 51 BRAF V#E 51 enzyme deficiency 51 ovarian cancers 51 hyperbilirubinemia 51 telomere DNA 51 Male infertility 51 lung tumors 51 Becker muscular dystrophy 51 G6PD 51 PTEN gene 51 neurofibromatosis type 51 subclinical 51 GIST tumors 51 incurable genetic 51 arterial calcification 51 ABCB1 51 TTTS 51 pneumococci 51 genetic manipulations 51 familial hypercholesterolemia 51 ovarian dysfunction 51 neuro developmental 51 APOE allele 51 apoE 51 physiologic mechanisms 51 epigenetically 51 recessive gene 51 progenitor cells 51 autism spectrum disorders 51 NPHP 51 homocystinuria 51 catheter angiography 51 normal karyotype 51 enterotypes 51 autosomal dominant disorder 51 pyloric stenosis 51 hemangiomas 51 nongenetic 51 Hh pathway 51 SCN5A 51 NOTCH1 51 haploid 51 heterozygotes 51 MIF protein 51 metastatic lesions 51 multidrug resistance 51 Joubert syndromes 51 Genetic profiling 51 tumor suppressor protein 51 facial clefts 51 abnormal chromosome 51 etiologic 51 carcinogenesis 51 dystrophies 51 gynecologic malignancy 51 transgenic rats 51 monoclonal gammopathy 51 genetic susceptibilities 51 NSCLC tumors 51 genetic underpinnings 51 Clusterin 51 chromosome #q# [001] 51 missense mutation 51 inflammatory bowel disease 51 prostate cancer CaP 51 epithelial tissues 51 Retinopathy 51 causative mutations 51 renal scarring 51 overdiagnosis 51 Prox1 51 CYP#D# gene 51 Leydig cells 51 hereditary nonpolyposis colorectal cancer 51 molar pregnancy 51 Wnt proteins 51 KRAS mutations 51 non syndromic 51 abnormal proteins 51 BRCA gene mutations 51 osteopontin 51 epigenetic regulation 51 medulloblastoma tumors 51 deleterious mutation 51 breast endometrial 51 transgene expression 51 iPSC lines 51 precancerous tumors 51 menin 51 Gliomas 51 MC1R gene 51 CYP#C# [002] 51 squamous cell lung cancer 51 thyroid hormone levels 51 CCR5 delta# 51 protein encoded 51 subclinical hypothyroidism 51 gene APOE4 51 congenital defects 51 SOX3 gene 51 Rh factor 51 leukodystrophies 51 neuroligins 51 preterm delivery 51 preimplantation genetic diagnosis 51 Dpp 51 hematologic disorders 51 cybrid 51 podocytes 51 blastomere 51 intestinal inflammation 51 segmental duplications 51 HLA B# gene 51 ORMDL3 51 Lafora disease 51 genetically modified mice 51 PALB2 gene 51 malignant polyps 51 NKT cells 51 monozygotic 51 biomarkers 51 alternative splicing 51 pituitary tumors 51 guinea pigs lubiprostone 51 Muscular dystrophies 51 aberrant methylation 51 epilepsies 51 zebrafish embryos 51 Notch1 51 neuro degenerative disease 51 Trichomonas 51 lung lesions 51 prognostic marker 51 immunodeficiency disorder 51 HNSCC 51 blood clotting disorders 51 yeast prions 51 EGFR mutation 51 gastric carcinoma 51 C#Y 51 thyroid cancers 51 genomic 51 APOE genotype 51 infertility 51 metabolic abnormality 51 hematopoietic cancers 51 elevated CRP 51 Neural stem cells 51 myelomeningocele 51 MODY 51 BRCA gene mutation 51 myeloproliferative disorders 51 genetic biomarkers 51 autosomal dominant 51 epigenome 51 underlying pathophysiology 51 TRAF1 C5 51 metabolic disorder 51 sperm donor offspring 51 grade serous ovarian 51 genetic makeups 51 Genetic variation 51 gastric adenocarcinoma 51 Gorlin syndrome 51 Down syndrome 51 lipid abnormalities 51 anovulation 51 MAPK pathway 51 TMEM#B 50 singleton pregnancy 50 sarcosine 50 spinal muscle atrophy 50 C. pneumoniae 50 EoE 50 EGFR mutations 50 Wiskott Aldrich syndrome 50 cervical carcinoma 50 pulmonary hypoplasia 50 biopsied embryos 50 pre eclamptic 50 embryonic tissues 50 chitinase 50 mucins 50 microvascular disease 50 M. genitalium 50 gene BRCA2 50 gastrointestinal stromal tumors GISTs 50 frameshift mutation 50 parkin gene 50 vitamin B# deficiency 50 neurofibrillary 50 epigenetic reprogramming 50 HLA alleles 50 PCa 50 NPY gene 50 HLA DQ2 50 pre cancerous lesions 50 precancerous stem cells 50 gene deletions 50 Activating mutations 50 Telomere length 50 Wnt signaling pathway 50 FGF signaling 50 HLA B# 50 reprogrammed cells 50 sortilin 50 TAp# 50 fatty liver disease 50 virulence determinants 50 skeletal muscle cells 50 mitochondrial toxicity 50 physiological abnormalities 50 inbreeding depression 50 hematopoietic malignancies 50 homozygous 50 adenoma 50 RET PTC rearrangements