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IEEE Transactions on Ultrasonics, Ferroelectrics, and Frequency Control, ISSN 0885-3010, 11/2019, pp. 1 - 1
Magnetic hysteresis properties are sensitive to stress in ferromagnetic materials. This suggests that magnetic measurements are a potential method to evaluate... 
residual stress | Magnetic hysteresis | nondestructive evaluation | Acoustics | Residual stresses | Steel | Ultrasound | Hysteresis | electromagnetic response | Magnetic properties
Journal Article
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2019, Volume 181, Issue 2, pp. 166 - 169
Since 1961, all Japanese citizens have belonged to one of the available medical care insurance systems. This “universal care” system has contributed to the... 
undiagnosed diseases | medical genetics | Asia | Japan | Medical research | Patient outcomes | Health care reform | Medical genetics | Medicine, Experimental | Infants | College teachers | Medical care, Cost of | Health care | Medicine | Life expectancy | Life span | Medical services | Genetics | Infant mortality | Health risk assessment | Diseases
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2019, Volume 179, Issue 12, pp. 2506 - 2509
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 12/2019, Volume 21, p. 100531
Part of the weakness of exome analysis lies in the inability to detect aberrant splicing. An evaluation of the post-splicing mRNA sequence concurrently with... 
Exome | Alternative splicing | Mutation detection | Transcriptome
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2009, Volume 17, Issue 12, pp. 1582 - 1591
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2019, Volume 179, Issue 12, pp. 2510 - 2513
Journal Article
American Journal of Respiratory and Critical Care Medicine, ISSN 1073-449X, 11/2018, Volume 198, Issue 9, pp. 1231 - 1233
Whole-exome sequencing was negative for mutations in all known genes pathogenic for PAH (BMPR2 [bone morphogenetic protein receptor type 2], ACVRL1 [activin A... 
MICE | ANGIOGENESIS | RESPIRATORY SYSTEM | REDUNDANT ROLES | CRITICAL CARE MEDICINE | Medicine | Morphogenesis | Hypertension | Angiogenesis | Genes | Families & family life | Mutation | Kinases | Age
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 11/2017, Volume 38, Issue 11, pp. 1611 - 1612
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2019, Volume 179, Issue 8, pp. 1609 - 1614
Subsets of mitochondrial transfer RNA (tRNA) contain the N6‐isopentenyladenosine (i6A) or 2‐methylthio‐N6‐isopentenyladenosine (ms2i6A) modification at... 
Measurement | Analysis | Epilepsy | Physiological aspects | Diagnosis | Mass spectrometry | Transfer RNA | Urine | Energy metabolism | Phosphorylation | Biochemical analysis | tRNA | Mass spectroscopy | Ribonucleic acid--RNA | tRNA isopentenyltransferase | Mitochondria | Missense mutation | Oxidative phosphorylation | Biopsy | Peripheral blood | Mutation | Hepatotoxicity | Seizures
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2019, Volume 179, Issue 6, pp. 896 - 899
Cleft palate can be classified as either syndromic or nonsyndromic. SATB2‐associated syndrome is one example of a syndromic cleft palate that is accompanied by... 
verbal development | cleft palate | SATB2 | GENETICS & HEREDITY | DELETION | Molecular modelling | Clonal deletion | Linguistics | Diagnosis | Mutation | Gene deletion | Cleft lip/palate
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2019, Volume 179, Issue 8, pp. 1628 - 1630
Activation of the RAS pathway through either the activation of genes that accelerate the pathway or the suppression of genes that inhibit the pathway leads to... 
MRAS | RAS | Noonan syndrome | RASopathy | Costello syndrome | GENES | GENETICS & HEREDITY | DISORDERS | MUTATIONS | Genetic aspects | Cancer | Genotype & phenotype | Phenotypes | Noonan's syndrome | Mutation | Genes | Transcription activation
Journal Article