-
1
المؤلفون: J S, Amos, L, Huang, J, Thevenon, A, Kariminedjad, C L, Beaulieu, A, Masurel-Paulet, H, Najmabadi, Z, Fattahi, M, Beheshtian, S H, Tonekaboni, S, Tang, K L, Helbig, W, Alcaraz, J-B, Rivière, L, Faivre, A M, Innes, R R, Lebel, K M, Boycott
المصدر: Clinical genetics. 91(1)
مصطلحات موضوعية: Male, Models, Molecular, Adolescent, Genotype, Mutation, Missense, RNA-Binding Proteins, Genes, Recessive, Sequence Analysis, DNA, Syndrome, Severity of Illness Index, Phenotype, Protein Domains, Intellectual Disability, Humans, Exome, Female, Genetic Predisposition to Disease, Child
-
2
المؤلفون: R R, Lebel, M, May, S, Pouls, H A, Lubs, R E, Stevenson, C E, Schwartz
المصدر: Clinical genetics. 61(2)
مصطلحات موضوعية: Adult, Family Health, Male, X Chromosome, Mutation, Missense, Proteins, Exons, Syndrome, Pedigree, src Homology Domains, Leucine, Intellectual Disability, Mutation, Guanine Nucleotide Exchange Factors, Humans, Female, Gene Silencing, Polymorphism, Single-Stranded Conformational
-
3
المؤلفون: B A, Swiglo, R R, Lebel
المصدر: American journal of human genetics. 61(4)
مصطلحات موضوعية: Duty to Recontact, Incidental Findings, Neoplasms, Prenatal Diagnosis, Humans, Family, Genetic Counseling, Genetic Predisposition to Disease, Disclosure, Genetic Testing
-
4
المؤلفون: M L, Leonardi, G S, Pai, B, Wilkes, R R, Lebel
المصدر: American journal of medical genetics. 102(3)
مصطلحات موضوعية: Craniofacial Abnormalities, Heart Defects, Congenital, Male, Fatal Outcome, Cerebellum, Infant, Newborn, Humans, Infant, Abnormalities, Multiple, Female, Syndrome, Fetal Death
-
5
المؤلفون: N C, Reynolds, R R, Lebel, K de S, Hamsher, B, Blackwell, B R, Elejalde, G R, Winter
المصدر: Wisconsin medical journal. 93(2)
مصطلحات موضوعية: Huntington Disease, Genetic Carrier Screening, Humans, Genetic Counseling, DNA, Life Style
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::75d13b0c5c7671a7c156f4af3e7fc6e9
https://pubmed.ncbi.nlm.nih.gov/8191778 -
6
المؤلفون: R. L. Gold, R. B. Dworkin, J. K. Burns, E. A. Mearns, R. R. Lebel, T. Hadro
المصدر: American journal of medical genetics. 47(8)
مصطلحات موضوعية: Genetics, medicine.medical_specialty, Informed Consent, Computer science, Genetic Linkage, Medical jurisprudence, Preservation, Biological, Genetic Diseases, Inborn, Records, DNA, Dna testing, Risk Assessment, Consent Forms, chemistry.chemical_compound, chemistry, Informed consent, Genetic linkage, Family medicine, medicine, Humans, Databases, Nucleic Acid, Genetics (clinical), Medical ethics
-
7
المؤلفون: K Hirschhorn, E Sujansky, R E Zinberg, Edward R B Mccabe, L D Fleisher, Barry H. Thompson, L Godmilow, Reed E. Pyeritz, M J McGinniss, R R Howell, M Z Pelias, Aubrey Milunsky, R R Lebel
المصدر: Genetics in Medicine. 1:171-172
مصطلحات موضوعية: Duty to Recontact, medicine.diagnostic_test, media_common.quotation_subject, MEDLINE, Disclosure, Professional-Patient Relations, medicine.disease, Genetics, medicine, Humans, Ethics, Medical, Genetic Testing, Medical emergency, Psychology, Duty, Genetics (clinical), Genetic testing, media_common
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f18fcd953c40a271ddc04657872461f5
https://doi.org/10.1097/00125817-199905000-00010 -
8
المصدر: Genetics in Medicine. 2:111
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Long term follow up, Incidence (epidemiology), Birth weight, Prenatal diagnosis, Delivery problems, Amniocentesis, medicine, Medical genetics, business, Complication, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fab9fdaf6b5f6f8adf1ca0f57605cfe3
https://doi.org/10.1097/00125817-200001000-00220 -
9
المؤلفون: G A Lofthouse, R R Lebel
المصدر: Genetics in Medicine. 1:57
مصطلحات موضوعية: medicine.medical_specialty, Pregnancy, business.industry, Context (language use), medicine.disease, Community hospital, Craft, Nursing, Multidisciplinary approach, Health care, Medicine, Anxiety, Pregnancy termination, medicine.symptom, business, Psychiatry, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a0c8e72f4079b37a162cd4d190630f24
https://doi.org/10.1097/00125817-199901000-00066 -
10
المؤلفون: R. R. Lebel
المصدر: JAMA: The Journal of the American Medical Association. 273:1089b-1089
مصطلحات موضوعية: General Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6537bcfb51640e8f3c83e835e3139823
https://doi.org/10.1001/jama.273.14.1089b