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American Journal of Human Genetics, ISSN 0002-9297, 05/2015, Volume 96, Issue 5, pp. 816 - 825
Journal Article
Mechanical Systems and Signal Processing, ISSN 0888-3270, 11/2018, Volume 112, pp. 359 - 383
Journal Article
Cell, ISSN 0092-8674, 03/2018, Volume 173, Issue 1, pp. 90 - 103.e19
Journal Article
Genetics in Medicine, ISSN 1098-3600, 11/2018, Volume 20, Issue 11, pp. 1334 - 1345
Purpose Standardized and accurate variant assessment is essential for effective medical care. To that end, Clinical Genome (ClinGen) Resource clinical domain... 
ClinGen | RASopathy | Ras/MAPK | Noonan | variant interpretation | Genomics | Genes | MAPK | Ras
Journal Article
10/2010
PURPOSE: A compression grip for a reinforcement anchor is provided to protect a strand from foreign materials when the strand is inserted into a reinforcement... 
HANDLING BUILDING MATERIALS ON THE SITE | REPAIRING, BREAKING-UP OR OTHER WORK ON EXISTINGBUILDINGS | HYDRAULIC ENGINEERING | FIXED CONSTRUCTIONS | SCAFFOLDING | FORMS | SOIL SHIFTING | UNDERGROUND OR UNDERWATER STRUCTURES | BUILDING | EMBANKMENTS | FOUNDATIONS | BUILDING IMPLEMENTS OR OTHER BUILDING AIDS, OR THEIRUSE | SHUTTERING | EXCAVATIONS
Patent
GENETICS IN MEDICINE, ISSN 1098-3600, 11/2018, Volume 20, Issue 11, pp. 1334 - 1345
Purpose: Standardized and accurate variant assessment is essential for effective medical care. To that end, Clinical Genome (ClinGen) Resource clinical domain... 
NOONAN SYNDROME | ClinGen | RASopathy | Noonan | variant interpretation | GUIDELINES | GENETICS & HEREDITY | LABORATORIES | MUTATIONS | Ras/MAPK | Genetic Variation | United States | Gene Frequency | Humans | High-Throughput Nucleotide Sequencing | Software | Mutation | Genomics - methods | Genetic Testing - methods | Genome, Human - genetics | Information Dissemination
Journal Article
Genome medicine, ISSN 1756-994X, 08/2017, Volume 9, Issue 1, pp. 73 - 9
Journal Article
Journal Article
American Antiquity, ISSN 0002-7316, 4/2007, Volume 72, Issue 2, pp. 241 - 272
Cultural resource databases represent the single largest compilations of archaeological site data, but these databases are seldom used in research because they... 
Archaeology | Mesas | Databases | Archaeological site recording | Architecture | Pottery | Population estimates | Density distributions | Archaeological excavation | Archaeological sites | ANTHROPOLOGY | ARCHAEOLOGY | Bayesian statistical decision theory | Usage | Pueblos (Villages) | Analysis | Research | Archaeological surveying | Methods
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2016, Volume 170, Issue 3, pp. 559 - 564
Costello syndrome (CS) entails a cancer predisposition and is caused by activating HRAS mutations, typically arising de novo in the paternal germline.... 
imprinting | p.Q22K | Beckwith–Wiedemann syndrome | HRAS mutation | Costello syndrome | neonatal hyperinsulinemic hypoglycemia | 11p15.5 | loss of heterozygosity | Beckwith-Wiedemann syndrome | Neonatal hyperinsulinemic hypoglycemia | Imprinting | Loss of heterozygosity | P.Q22K | DEFECTS | ABNORMALITIES | GENOTYPE | HRAS(G12V) | HRAS MUTATION ANALYSIS | ORIGIN | PHENOTYPE CORRELATION | GENETICS & HEREDITY | GERMLINE MUTATIONS | RHABDOMYOSARCOMA | PATHWAY SYNDROME | Uniparental Disomy - diagnosis | Genomic Imprinting | Proto-Oncogene Proteins p21(ras) - genetics | Costello Syndrome - diagnosis | Humans | Beckwith-Wiedemann Syndrome - diagnosis | Molecular Sequence Data | Infant | Male | Hypoglycemia - pathology | Loss of Heterozygosity | Beckwith-Wiedemann Syndrome - genetics | Inheritance Patterns | Congenital Hyperinsulinism - genetics | Congenital Hyperinsulinism - pathology | Insulin-Like Growth Factor II - genetics | Base Sequence | Fatal Outcome | Clone Cells | Hypoglycemia - diagnosis | Hypoglycemia - genetics | Costello Syndrome - pathology | Congenital Hyperinsulinism - diagnosis | Chromosomes, Human, Pair 11 - chemistry | Pancreas - pathology | Pancreas - metabolism | Costello Syndrome - genetics | Uniparental Disomy - genetics | Beckwith-Wiedemann Syndrome - pathology | Uniparental Disomy - pathology | Amino Acid Substitution | Infants (Newborn) | Immunohistochemistry
Journal Article
The Journal of Infectious Diseases, ISSN 0022-1899, 7/2013, Volume 208, Issue 1, pp. 57 - 66
Journal Article