المؤلفون: M. W. Burley, Luiza T. Tsuneto, Claudio M. Bravi, Francisco Rothhammer, Jean-Michel Dugoujon, Stéphane Mazières, Andres Ruiz-Linares, Ramiro Barrantes, Gabriel Bedoya, Ning Ning Yang, María Victoria Parra, Julio Molina, William Klitz, Maria Cátira Bortolini, Elena Llop, Winston Rojas, Giovanni Poletti, Damian Labuda, Nicolas Ray, Carla Gallo, Maria Luiza Petzl-Erler, Kim Hill, Francisco M. Salzano, Sijia Wang, Laurent Excoffier, A. M. Hurtado

المصدر: Annals of Human Genetics. 74:525-538

مصطلحات موضوعية: Genetics, 0303 health sciences, Mitochondrial DNA, education.field_of_study, 060101 anthropology, Effective size, Demographic history, Ecology, Native american, Population, Population structure, 06 humanities and the arts, 03 medical and health sciences, Geography, Microsatellite, 0601 history and archaeology, Colonization, education, Genetics (clinical), 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e32017d9b9b162aab21c4517d550b816Test
https://doi.org/10.1111/j.1469-1809.2010.00608.xTest

المؤلفون: Nicholas Jones, Juan D. Ramirez, John N. Wood, M. W. Burley, Barbara Kremeyer, Gabriel Bedoya, Florence R. Fricker, Aliakmal Momin, Andres Ruiz-Linares, Francois Rugiero, Andrés Villegas, C. Geoffrey Woods, Natalia Acosta, Steve Marsh, Kathryn J. Paterson, Julian Zea, Francisco Lopera, David L.H. Bennett, James J. Cox, Nicolas Pineda-Trujillo

المصدر: Neuron

مصطلحات موضوعية: Candidate gene, Neuroscience(all), Molecular Sequence Data, Mutant, HUMDISEASE, Pain, Nerve Tissue Proteins, Biology, Bioinformatics, MOLNEURO, Cell Line, 03 medical and health sciences, Transient Receptor Potential Channels, 0302 clinical medicine, Sensory threshold, medicine, Humans, Point Mutation, Amino Acid Sequence, TRPA1 Cation Channel, Pain Measurement, 030304 developmental biology, Genetics, 0303 health sciences, General Neuroscience, Point mutation, Haplotype, Syndrome, Phenotype, Pedigree, 3. Good health, SIGNALING, Hyperalgesia, Clinical Study, Calcium Channels, medicine.symptom, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::107f6a1db91130ae97b5b27fb7cbf976Test
http://europepmc.org/articles/PMC4769261Test

المؤلفون: María Cecilia López, Andres Ruiz-Linares, Jorge Ospina-Duque, G. Bedoya, Victor I. Reus, M. W. Burley, Ibi Herzberg, Nelson B. Freimer, María Victoria Parra, Patricia Montoya, Barbara Kremeyer, Carlos López, Jorge Vega, J. Garcia, Constanza Duque, H. Müller, Carlos Palacio

المصدر: Human Heredity
Human heredity, vol 70, iss 4

مصطلحات موضوعية: Male, Bipolar Disorder, Chromosomes, Human, Pair 21, Genetic Linkage, Pedigree chart, 0302 clinical medicine, 2.1 Biological and endogenous factors, Aetiology, Genetics (clinical), Psychiatric genetics, Genetics & Heredity, Genetics, 0303 health sciences, education.field_of_study, Depression, Chromosome Mapping, Serious Mental Illness, Pedigree, 3. Good health, Mental Health, Chromosomes, Human, Pair 1, Whole-genome linkage analysis, Pair 1, Microsatellite, Pair 7, Female, Chromosomes, Human, Pair 7, Human, Adult, Adolescent, Population, Locus (genetics), Colombia, Biology, Chromosomes, Young Adult, 03 medical and health sciences, Clinical Research, Genetic linkage, medicine, Humans, Bipolar disorder, education, 030304 developmental biology, Original Paper, Pair 16, Human Genome, medicine.disease, Brain Disorders, Mood disorders, Pair 21, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8eda39a3921b98730fb2198918dd1468Test
https://doi.org/10.1159/000320914Test

المؤلفون: Andres Ruiz-Linares, Kaisu Nikali, Juliana Martinez, Robert J. Unwin, M. W. Burley, Juan José Vanegas, O Wrong, Sue Povey, Lina M. Lopez, Gabriel Bedoya

المصدر: American Journal of Medical Genetics Part A. :2709-2712

مصطلحات موضوعية: medicine.medical_specialty, Pathology, Hearing loss, Hearing Loss, Sensorineural, Population, Colombia, Sensorineural deafness, Tubulopathy, Distal renal tubular acidosis, Internal medicine, Genetics, medicine, Humans, education, Genetics (clinical), education.field_of_study, Kidney, business.industry, Acidosis, Renal Tubular, medicine.disease, Founder Effect, Endocrinology, medicine.anatomical_structure, medicine.symptom, business, Founder effect, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb58707d5dcd1d4d4762c833fce520d6Test
https://doi.org/10.1002/ajmg.a.32495Test

المؤلفون: Robert M W Burley, I Gavrielides

المصدر: Journal of the Royal Army Medical Corps. 160(1)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, business.industry, Anemia, General Medicine, Primary care, Dieulafoy lesions, United Kingdom, Lesion, Diagnosis, Differential, Military Personnel, medicine, Humans, medicine.symptom, Presentation (obstetrics), business, Gastrointestinal Hemorrhage, Severe anaemia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76a1ea72a4670a1171387413759754a3Test
https://pubmed.ncbi.nlm.nih.gov/24535978Test

المؤلفون: M. W. Burley, D Jeganathan, S. Jeremiah, John P. Osborne, Rosemary Ekong, Janet M. Young, Susan Povey

المصدر: Annals of Human Genetics. 62:203-213

مصطلحات موضوعية: Male, RNA Splicing, Biology, medicine.disease_cause, Tuberous Sclerosis Complex 1 Protein, Loss of heterozygosity, Tuberous sclerosis, Tuberous Sclerosis, Genetics, medicine, Humans, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Gene Rearrangement, Mutation, Splice site mutation, Tumor Suppressor Proteins, fungi, Nucleic Acid Heteroduplexes, Proteins, food and beverages, medicine.disease, Penetrance, Pedigree, Tuberous sclerosis protein, Blotting, Southern, medicine.anatomical_structure, Haplotypes, Female, TSC1, Chromosomes, Human, Pair 9

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::196d28b865d6c06e3defe782996b3d14Test
https://doi.org/10.1046/j.1469-1809.1998.6230203.xTest

المؤلفون: J. WOLFE, S. JEREMIAH, J. YOUNG, M. W. BURLEY, H. STEWART, M. McCULLEY, C. GRANT, K. NAZ, S. POVEY

المصدر: Annals of Human Genetics. 61:401-409

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3152414ced4e1f4c5747438529c11e38Test
https://doi.org/10.1017/s0003480097006350Test

المؤلفون: M W Burley, Sanjay M. Sisodiya, Hannah R. Cock, Chantal Depondt, David Goldstein, David Weinshenker, Daniel G. Healy, Nicholas W. Wood

المصدر: Neurology. 63:1497-1499

مصطلحات موضوعية: Male, medicine.medical_specialty, Genotype, medicine.medical_treatment, DNA Mutational Analysis, Drug Resistance, Locus (genetics), Dopamine beta-Hydroxylase, Polymorphism, Single Nucleotide, Cohort Studies, Central nervous system disease, Norepinephrine, Epilepsy, Gene Frequency, Dopamine, Internal medicine, Humans, Point Mutation, Medicine, Genetic Predisposition to Disease, Genetic Testing, Genetic testing, medicine.diagnostic_test, business.industry, Genetic Variation, medicine.disease, Europe, Anticonvulsant, Endocrinology, Anticonvulsants, Female, Neurology (clinical), Animal studies, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f8d280021951b63ad71badc18189e0eTest
https://doi.org/10.1212/01.wnl.0000142092.16719.adTest

المؤلفون: M. Super, M. W. Burley, R. Mueller, David Webb, Patricia Tippett, David J. Kwiatkowski, Antonia Clarke, Frances Benham, J. H. Edwards, David M. Hunt, D. Franklin, E. B. Robson, G. T. Gillett, J. Attwood, Susan Povey, S. Jeremiah, John P. Osborne, A. Fryer, S. Malas

المصدر: Annals of Human Genetics. 58:107-127

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genetic Linkage, Chromosome 9, Locus (genetics), Biology, Chromosome 16, Gene mapping, Tuberous Sclerosis, Locus heterogeneity, Genetics, medicine, Humans, Child, Genetics (clinical), Aged, Aged, 80 and over, Genetic heterogeneity, Chromosome Mapping, Infant, Middle Aged, medicine.disease, Tuberous sclerosis protein, Genetic marker, Child, Preschool, Female, Lod Score, Chromosomes, Human, Pair 9, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ede06216c16cdc76e1f9d97c9ddbc306Test
https://doi.org/10.1111/j.1469-1809.1994.tb01881.xTest

المؤلفون: John R.W. Yates, A. E. Fryer, John P. Osborne, L. A. J. Janssen, M. W. Burley, R. S. Kandt, J. Attwood, Margaret A. Pericak-Vance, R. Fahsold, P. M. Conneally, Pamela Flodman, J. A. Trofatter, Marcy C. Speer, Jean A. Amos, M. P. Short, Sue Povey, J. M. Connor, Hope Northrup, Jonathan L. Haines, N. T. Bech-Hansen, D. J. J. Halley, Julian R. Sampson, Ann F. Jewell, Moyra Smith

المصدر: Annals of the New York Academy of Sciences. 615:256-264

مصطلحات موضوعية: Genetics, Phenocopy, Likelihood Functions, Genetic Linkage, Genetic heterogeneity, Chromosomes, Human, Pair 11, General Neuroscience, Chromosome, Locus (genetics), Biology, medicine.disease, Penetrance, General Biochemistry, Genetics and Molecular Biology, Tuberous sclerosis, History and Philosophy of Science, Tuberous Sclerosis, Genetic linkage, medicine, Humans, Chromosomes, Human, Pair 9, Gene, Polymorphism, Restriction Fragment Length, Genes, Dominant

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59598e26f3715c00a925397f3e8deee4Test
https://doi.org/10.1111/j.1749-6632.1991.tb37767.xTest