المؤلفون: G, Cuturilo, J C, Hodge, C K, Runke, E C, Thorland, M A, Al-Owain, J W, Ellison, D, Babovic-Vuksanovic

المصدر: Clinical genetics. 89(1)

مصطلحات موضوعية: Chromosome Aberrations, Male, Sacrum, Genotype, Infant, Newborn, Rectum, Anal Canal, Facies, Magnetic Resonance Imaging, Spine, Syringomyelia, Phenotype, Child, Preschool, Karyotyping, Mutation, Humans, Genetic Testing, Digestive System Abnormalities, Algorithms, Genetic Association Studies, In Situ Hybridization, Fluorescence

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a956541b9ac2e70d491aa1182bed9ff9
https://pubmed.ncbi.nlm.nih.gov/25691298

المؤلفون: E R, Riggs, K E, Wain, D, Riethmaier, B, Smith-Packard, W A, Faucett, N, Hoppman, E C, Thorland, V C, Patel, D T, Miller

المصدر: Clinical genetics. 85(2)

مصطلحات موضوعية: DNA Copy Number Variations, Genetic Services, Developmental Disabilities, Physicians, Insurance, Health, Reimbursement, Disease Management, Humans, Practice Patterns, Physicians', Microarray Analysis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::1ffaf07664ac9166af0352c857a82dcb
https://pubmed.ncbi.nlm.nih.gov/23347240

المؤلفون: E C, Thorland, S L, Myers, D H, Persing, G, Sarkar, R M, McGovern, B S, Gostout, D I, Smith

المصدر: Cancer research. 60(21)

مصطلحات موضوعية: Chromosomes, Artificial, Bacterial, Base Sequence, Chromosome Fragile Sites, Chromosome Fragility, Virus Integration, Molecular Sequence Data, Uterine Cervical Neoplasms, DNA, Neoplasm, Polymerase Chain Reaction, DNA, Viral, Carcinoma, Squamous Cell, Chromosomes, Human, Humans, Female, Cloning, Molecular, Papillomaviridae

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::227b36129d754e9bce352fdb56161649
https://pubmed.ncbi.nlm.nih.gov/11085503

المؤلفون: J Z, Liu, X, Li, J, Drost, E C, Thorland, Q, Liu, T, Lind, S, Roberts, H Y, Wang, S S, Sommer

المصدر: Human mutation. 16(1)

مصطلحات موضوعية: Factor IX, Male, China, Mutagenesis, Site-Directed, Humans, Female, Hemophilia B, Germ-Line Mutation, White People, Pattern Recognition, Automated

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::631b19fb9e6843b1b68b28a1a77680e8
https://pubmed.ncbi.nlm.nih.gov/10874302

المؤلفون: E C, Thorland, J B, Drost, J M, Lusher, I, Warrier, A, Shapiro, M A, Koerper, D, Dimichele, J, Westman, N S, Key, S S, Sommer

المصدر: Haemophilia : the official journal of the World Federation of Hemophilia. 5(2)

مصطلحات موضوعية: Factor IX, Family Health, Male, Likelihood Functions, Genotype, Risk Factors, Mutation, Humans, Female, Anaphylaxis, Hemophilia B, Gene Deletion, Probability

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::dc0e4e1d6c780feb48f253bc8349fda2
https://pubmed.ncbi.nlm.nih.gov/10215957

المؤلفون: J A, Heit, E C, Thorland, R P, Ketterling, T J, Lind, T M, Daniels, R E, Zapata, S M, Ordonez, C K, Kasper, S S, Sommer

المصدر: Human mutation. 11(5)

مصطلحات موضوعية: Factor IX, Mexican Americans, Peru, Indians, North American, Humans, Hispanic or Latino, Hemophilia B, Germ-Line Mutation, White People

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::0b86766d8e3763aaebb6e16db9d3a802
https://pubmed.ncbi.nlm.nih.gov/9600455

المؤلفون: T, Lind, E C, Thorland, S S, Sommer

المصدر: Methods in molecular biology (Clifton, N.J.). 65

مصطلحات موضوعية: Gene Amplification, Sequence Analysis, DNA, Polymerase Chain Reaction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::28a0147200df0ec87cf6dc73392b9fa7
https://pubmed.ncbi.nlm.nih.gov/8956267

المؤلفون: E C, Thorland, B G, Weinshenker, J Z, Liu, R P, Ketterling, E L, Vielhaber, C K, Kasper, R, Ambriz, R, Paredes, S S, Sommer

المصدر: Thrombosis and haemostasis. 74(6)

مصطلحات موضوعية: Factor IX, Male, Haplotypes, Humans, Female, Hemophilia B, Mexico, Founder Effect, Germ-Line Mutation, United States, White People

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e11d8714890d611bc827ef47117aeda4
https://pubmed.ncbi.nlm.nih.gov/8772212

المؤلفون: R P, Ketterling, E L, Vielhaber, T J, Lind, E C, Thorland, S S, Sommer

المصدر: American journal of human genetics. 54(2)

مصطلحات موضوعية: Base Sequence, Molecular Sequence Data, DNA, Hemophilia B, Factor IX, Mutagenesis, Insertional, Mutation, Humans, Nucleic Acid Conformation, RNA, Messenger, Gene Deletion, Repetitive Sequences, Nucleic Acid, Sequence Deletion, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::846d54622198c910fe63f2f384a77e4c
https://pubmed.ncbi.nlm.nih.gov/8304338

المؤلفون: E. C. THORLAND

المصدر: Haemophilia. 5:101

مصطلحات موضوعية: Hematology, General Medicine, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::eed183c369eff6921566972a8de612f7
https://doi.org/10.1046/j.1365-2516.1999.00303.x