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المؤلفون: Jules G. Leroy, Hannah Warren, Jaime L. Frias, Michael J. Friez, Neena L. Champaigne, Jürgen Spranger, Raymond J. Louie, Steven A. Skinner
المصدر: Clinical Case Reports
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, media_common.quotation_subject, Nonsense, Case Report, Case Reports, 030105 genetics & heredity, Short stature, 03 medical and health sciences, Medicine, Missense mutation, media_common, Omodysplasia, Autosomal dominant omodysplasia, business.industry, Rhizomelia, FRIZZLED2, rhizomelia, General Medicine, medicine.disease, Robinow syndrome, 030104 developmental biology, Dysplasia, omodysplasia, medicine.symptom, business
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المؤلفون: Jaime L. Frias
المصدر: Advances in Pediatrics. 62:1-10
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, medicine, Fetal alcohol syndrome, Psychiatry, medicine.disease, business, Teratology
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المؤلفون: F. John Meaney, Jacquelyn Bertrand, Linnette Ortiz, Suzanne M. Gilboa, Christopher Cunniff, Sydney Pettygrove, Leslie A. O'Leary, Charlotte M. Druschel, Jaime L. Frias, Don Klumb, Maureen E. Kelly, April Montgomery, Deborah J. Fox, Kelly Ferrara, Luther K. Robinson, April Breen, Margaret Ruttenber
المصدر: Birth Defects Research Part A: Clinical and Molecular Teratology. 103:196-202
مصطلحات موضوعية: Embryology, medicine.medical_specialty, education.field_of_study, Pediatrics, business.industry, Public health, Medical record, Population, Prevalence, Specialty, Fetal alcohol syndrome, General Medicine, medicine.disease, Family medicine, Pediatrics, Perinatology and Child Health, Medicine, Epidemiological Monitoring, business, education, Medicaid, Developmental Biology
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المؤلفون: Jane D. Carver, Jaime L. Frias, Michael S. Kappy, Grant Morrow, Bertram H. Lubin
المصدر: Advances in Pediatrics. 61:xxv-xxx
مصطلحات موضوعية: business.industry, Pediatrics, Perinatology and Child Health, Medicine, Theology, business
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المؤلفون: Heather Freiman, Deborah J. Fox, Marvin Adams, F. John Meaney, Leslie A. O'Leary, Craig Hansen, Jaime L. Frias
المصدر: Birth Defects Research Part A: Clinical and Molecular Teratology. 100:67-78
مصطلحات موضوعية: Health plan, Embryology, Pediatrics, medicine.medical_specialty, Pregnancy, business.industry, Fetal alcohol syndrome, General Medicine, Anthropometry, Health records, medicine.disease, Pediatrics, Perinatology and Child Health, medicine, Medical diagnosis, Epidemiological Monitoring, business, Depression (differential diagnoses), Developmental Biology
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المصدر: American Journal of Medical Genetics Part A. 164:1234-1238
مصطلحات موضوعية: Proband, medicine.medical_specialty, Osteochondrodysplasias, Short stature, Bone and Bones, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Chromosomes, Human, X, Comparative Genomic Hybridization, Omodysplasia, Autosomal dominant omodysplasia, Autosomal recessive omodysplasia, business.industry, Rhizomelia, Facies, Humerus, Metacarpal Bones, Middle Aged, medicine.disease, Dermatology, Osteochondrodysplasia, Radiography, Natural history, Phenotype, Endocrinology, Female, Chromosome Deletion, medicine.symptom, T-Box Domain Proteins, business
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المؤلفون: Robert E. Meyer, Gary M. Shaw, Regina M. Simeone, Joanne V. Mei, Jeffrey L. Jones, Margaret A. Honein, Jaime L. Frias, Mark A. Canfield, Sonja A. Rasmussen, Sheila C. Dollard, Fred Lorey
المصدر: Birth Defects Research Part A: Clinical and Molecular Teratology. 97:431-436
مصطلحات موضوعية: Embryology, Pediatrics, medicine.medical_specialty, biology, Congenital cytomegalovirus infection, Toxoplasma gondii, Retrospective cohort study, General Medicine, Odds ratio, biology.organism_classification, medicine.disease, Hydrocephalus, Cerebrospinal fluid, Immunoglobulin M, Pediatrics, Perinatology and Child Health, Immunology, biology.protein, medicine, Etiology, Developmental Biology
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8
المصدر: American Journal of Medical Genetics Part A. 155:2137-2145
مصطلحات موضوعية: Adult, Heart Defects, Congenital, Male, medicine.medical_specialty, Coarctation of the aorta, Atrial septal defects, Cohort Studies, symbols.namesake, Pregnancy, Risk Factors, Prevalence, Genetics, medicine, Humans, Registries, Poisson regression, Genetics (clinical), business.industry, Obstetrics, Confounding, Age Factors, Urban Health, Infant, medicine.disease, United States, Vital Statistics, Health Records, Personal, Great arteries, Cohort, symbols, Female, business, Maternal Age, Cohort study
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المؤلفون: Margaret A. Honein, W. Harry Hannon, Jeffrey L. Jones, Sonja A. Rasmussen, Shu Chaing, Joanne V. Mei, Lixia Li, Fred Lorey, Gary M. Shaw, Mark A. Canfield, Sarah A. Collier, Jaime L. Frias, Robert E. Meyer
المصدر: Clinica Chimica Acta. 412:455-459
مصطلحات موضوعية: Clinical Biochemistry, Population, Physiology, Biology, Sensitivity and Specificity, Biochemistry, Congenital hydrocephalus, Animals, Humans, Dried blood, education, Blood Specimen Collection, Newborn screening, education.field_of_study, Spots, Biochemistry (medical), Infant, Newborn, Toxoplasma gondii, General Medicine, biology.organism_classification, nervous system diseases, Immunoglobulin M, Immunology, biology.protein, Toxoplasma, Blood Chemical Analysis, Hydrocephalus
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المؤلفون: Jeffrey C. Murray, Gary M. Shaw, Sonja A. Rasmussen, Cynthia A. Moore, Edward J. Lammer, Wei Yang, Margaret A. Honein, Alicia E. Genisca, Jaime L. Frias, Cheryl S. Broussard
المصدر: American Journal of Medical Genetics Part A. :1149-1158
مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Cleft Lip, Population, Prevalence, Congenital Abnormalities, Holoprosencephaly, Pregnancy, Epidemiology, Genetics, medicine, Humans, Abnormalities, Multiple, education, Genetics (clinical), Retrospective Studies, education.field_of_study, Pierre Robin Syndrome, business.industry, Infant, Newborn, Case-control study, Retrospective cohort study, medicine.disease, United States, Cleft Palate, Case-Control Studies, Pierre Robin syndrome, Female, Epidemiologic Methods, business