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1دورية أكاديمية
المؤلفون: Jessica A Lehoczky, Peedikayil E Thomas, Kevin M Patrie, Kailey M Owens, Lisa M Villarreal, Kenneth Galbraith, Joe Washburn, Craig N Johnson, Bryant Gavino, Alexander D Borowsky, Kathleen J Millen, Paul Wakenight, William Law, Margaret L Van Keuren, Galina Gavrilina, Elizabeth D Hughes, Thomas L Saunders, Lesil Brihn, Joseph H Nadeau, Jeffrey W Innis
المصدر: PLoS Genetics, Vol 9, Iss 12, p e1003967 (2013)
وصف الملف: electronic resource
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المصدر: American Journal of Medical Genetics Part A. 188:1476-1481
مصطلحات موضوعية: Fragile X Mental Retardation Protein, Trinucleotide Repeats, Fragile X Syndrome, Genetics, Humans, Female, Child, Trinucleotide Repeat Expansion, Alleles, Genetics (clinical), Retrospective Studies
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المؤلفون: Jamie Allen, Mia S. Mackall, Kailey M. Owens, Rachel Allen, Matthew L. Tschirgi
المصدر: Journal of genetic counselingREFERENCES. 31(1)
مصطلحات موضوعية: Licensure, Medical education, Cost effectiveness, business.industry, Computer science, Genetic counseling, Data Collection, Genetic Counseling, Credentialing, United States, Documentation, Counselors, Workforce, Health care, Humans, business, Genetics (clinical), Reimbursement, Quality of Health Care
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المؤلفون: Christina Settler, Ryan E. Longman, Jeana DaRe, Tobias Mann, Carol Holland, Kailey M. Owens, Lindsay Dohany
المصدر: American Journal of Medical Genetics Part A. 176:1304-1308
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Population, Ethnic group, Carrier testing, Cohort Studies, Fragile X Mental Retardation Protein, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Mutation Rate, 030225 pediatrics, Intellectual disability, Genetics, medicine, Humans, Allele, education, Genetics (clinical), Retrospective Studies, education.field_of_study, business.industry, Genetic Carrier Screening, medicine.disease, FMR1, Fragile X syndrome, 030104 developmental biology, Risk Estimate, Fragile X Syndrome, Female, Trinucleotide Repeat Expansion, business, Demography
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المصدر: Journal of Genetic Counseling. 25:101-111
مصطلحات موضوعية: Adult, Male, Parents, 0301 basic medicine, medicine.medical_specialty, Coping (psychology), media_common.quotation_subject, Genetic counseling, Genetic Counseling, 030105 genetics & heredity, Terminology, Developmental psychology, 03 medical and health sciences, Adaptation, Psychological, medicine, Humans, Child, Genetics (clinical), Genetic testing, media_common, Chromosome Aberrations, Recall, medicine.diagnostic_test, business.industry, Public health, Uncertainty, Microarray Analysis, Human genetics, Female, business
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المصدر: Journal of Genetic Counseling. 20:510-525
مصطلحات موضوعية: Male, Surgeon general, medicine.medical_specialty, business.industry, Health Personnel, Medical record, Genetic counseling, Public health, Disease, Cross-Sectional Studies, Nursing, Public use, Family medicine, Health care, Humans, Medicine, Family, Female, Family history, Medical History Taking, business, Genetics (clinical)
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المؤلفون: Friedhelm Hildebrandt, Edgar A. Otto, Kailey M. Owens, Weiping Peng, Suha Al Bader, Todd Ackley, Jun Li, Wisam Al Badr, David A. Bloom, Jishu Xu, Jeffrey W. Innis
مصطلحات موضوعية: Proband, Urologic Diseases, Urology, DNA Mutational Analysis, Saudi Arabia, Consanguinity, Article, Frameshift mutation, Diagnosis, Differential, medicine, Humans, Exome, Disease-causing Mutation, Child, Glucuronidase, Genetics, Massive parallel sequencing, Urofacial syndrome, business.industry, Homozygote, Chromosome Mapping, Facies, medicine.disease, Disease gene identification, Pedigree, Pediatrics, Perinatology and Child Health, Mutation, Female, business, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ede8a45c14a2966cd10d65bb12f99b26
https://europepmc.org/articles/PMC3157539/ -
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المؤلفون: Michael A. Charles, E. C. Ridgway, Thomas L. Saunders, David F. Gordon, William M. Wood, Sally A. Camper, Kailey M. Owens, Albert F. Parlow
المصدر: Molecular endocrinology (Baltimore, Md.). 20(6)
مصطلحات موضوعية: Male, medicine.medical_specialty, Pituitary gland, Transcription, Genetic, Transgene, Thyrotropin, GATA3 Transcription Factor, Biology, Gonadotropic cell, chemistry.chemical_compound, Mice, Endocrinology, Thyrotropic cell, Pregnancy, Internal medicine, medicine, Animals, Secretion, Molecular Biology, Mice, Knockout, Base Sequence, GATA2, Body Weight, GATA3, General Medicine, DNA, GATA2 Transcription Factor, Mice, Inbred C57BL, Castration, medicine.anatomical_structure, chemistry, Animals, Newborn, Pituitary Gland, Gonadotropins, Pituitary, Thyroidectomy, Female, Follicle Stimulating Hormone, Orchiectomy
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ffa68ccd19881d70412bff57e4c5ebd
https://pubmed.ncbi.nlm.nih.gov/16543408 -
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المؤلفون: William D. Law, Paul Wakenight, Alexander D. Borowsky, Margaret L. Van Keuren, Jessica A. Lehoczky, Joseph H. Nadeau, Elizabeth D. Hughes, Kailey M. Owens, Lisa M. Villarreal, Bryant J. Gavino, Galina B. Gavrilina, Jeffrey W. Innis, Peedikayil E. Thomas, Lesil E Brihn, Kenneth Galbraith, Craig N. Johnson, Thomas L. Saunders, Kathleen J. Millen, Joe Washburn, Kevin M. Patrie
المصدر: PLoS Genetics, Vol 9, Iss 12, p e1003967 (2013)
PLoS Geneticsمصطلحات موضوعية: Cancer Research, lcsh:QH426-470, RNA Splicing, Mutant, Mutagenesis (molecular biology technique), Biology, medicine.disease_cause, Mice, Genes, X-Linked, Gene expression, Genetics, medicine, Animals, Insertion, Molecular Biology, Gene, Genetics (clinical), Ecology, Evolution, Behavior and Systematics, Genes, Dominant, Regulation of gene expression, Mutation, Chromosome Mapping, Molecular biology, Mutagenesis, Insertional, lcsh:Genetics, Phenotype, Calcium-Calmodulin-Dependent Protein Kinase Type 1, Gene Expression Regulation, DNA methylation, DNA Transposable Elements, Dual-Specificity Phosphatases, Research Article