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1Academic Journal
المؤلفون: A. Manes, D. Donnai, D. Williams, G. Martensson, G. Mikhail, J. A. Phillips, J. E. Loyd, J. R. Thomson, J. Newman, K. B. Lane, K. McNeil, L. Tranebjaerg, L. Wheeler, M. W. Pauciulo, M. Humbert, M. Yacoub, N. V. Morgan, N. Galiè, P. Corris, P. Rogers, R. C. Trembath, W. C. Nichols, Rajiv Machado
مصطلحات موضوعية: C431 - Medical genetics, BMPR2, Pulmonary arterial hypertension
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2Academic Journal
المؤلفون: T. Fagerheim, Ø. Nilssen, P. Raeymaekers, V. Brox, T. Moum, H. H. Elverl, E. Teig, H. H. Oml, G. K. Fostad, L. Tranebjærg
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.579.5230; http://hmg.oxfordjournals.org/content/5/8/1187.full.pdf
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المؤلفون: Maria Bitner-Glindzicz, L Tranebjærg, N Strenzke
المصدر: Forschung heute – Zukunft morgen.
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المؤلفون: N Strenzke, Maria Bitner-Glindzicz, L Tranebjærg
المصدر: Forschung heute – Zukunft morgen.
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Auditory neuropathy, Medicine, CAPOS syndrome, Audiology, business, medicine.disease
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5
المؤلفون: T. Inazu, T. Kawahara, H. Endou, N. Anzai, I. Sebesta, B. Stiburkova, K. Ichida, M. Hosoyamada, A. Testa, D. Leonardis, F. Catalano, A. Pisano, A. Mafrica, B. Spoto, M. C. Sanguedolce, R. M. Parlongo, G. Tripepi, M. Postorino, G. Enia, C. Zoccali, F. Mallamaci, M. Working Group, A. Luque de Pablos, V. Garcia-Nieto, J. C. Lopez-Menchero, E. Ramos-Trujillo, H. Gonzalez-Acosta, F. Claverie-Martin, M. Arsali, P. Demosthenous, L. Papazachariou, Y. Athanasiou, K. Voskarides, C. Deltas, A. Pierides, S. Lee, K. H. Jeong, C. Ihm, T. W. Lee, S. H. Lee, J. Y. Moon, J. G. Wi, H. J. Lee, E. Y. Kim, K. Rogacev, A. Friedrich, B. Hummel, J. Berg, A. Zawada, D. Fliser, J. Geisel, G. H. Heine, I. Brabcova, S. Dusilova-Sulkova, Z. Krejcik, V. Stranecky, K. Lipar, T. Marada, J. Stepankova, O. Viklicky, M. Buraczynska, P. Zukowski, W. Zaluska, A. Kuczmaszewska, A. Ksiazek, M. Gaggl, S. Weidner, M. Hofer, J. Kleinert, G. Fauler, M. Wallner, P. Kotanko, G. Sunder-Plassmann, E. Paschke, R. Heguilen, L. Albarracin, J. Politei, A. A. Liste, A. Bernasconi, E. Kusano, R. Russo, A. Pisani, G. Messalli, M. Imbriaco, L. Prikhodina, O. Ryzhkova, V. Polyakov, K. Lipkowska, D. Ostalska-Nowicka, M. Smiech, M. Jaroniec, K. Zaorska, W. Szaflarski, M. Nowicki, J. Zachwieja, G. D'arrigo, J. Moskowitz, S. Piret, A. Tashman, E. Velez, K. Lhotta, R. Thakker, J. Cox, J. Kingswood, J. Mbundi, G. Attard, U. Patel, A. Saggar, F. Elmslie, T. Doyle, A. Jansen, S. Jozwiak, E. Belousova, M. Frost, R. Kuperman, M. Bebin, B. Korf, R. Flamini, M. Kohrman, S. Sparagana, J. Wu, J. Ford, G. Shah, D. Franz, B. Zonnenberg, W. Cheung, S. Urva, J. Wang, C. Kingswood, K. Budde, T. Kofman, C. Narjoz, Q. Raimbourg, M. Roland, M.-A. Loriot, A. Karras, G. S. Hill, C. Jacquot, D. Nochy, E. Thervet, P. Jagodzinski, M. Mostowska, A. Oko, N. Nicolaou, S. Kevelam, M. Lilien, M. Oosterveld, R. Goldschmeding, A. Van Eerde, R. Pfundt, A. Sonnenberg, P. Ter Hal, N. Knoers, K. Renkema, T. Storm, R. Nielsen, E. Christensen, C. Frykholm, L. Tranebjaerg, H. Birn, P. Verroust, T. Neveus, B. Sundelin, J. M. Hertz, G. Holmstrom, K. Ericson, A. Fabris, D. Cremasco, A. Zambon, E. Muraro, M. Alessi, A. D'angelo, F. Anglani, D. Del Prete, A. Alkmim Teixeira, B. M. Quinto, C. Jose Rodrigues, A. Beltrame Ribeiro, M. Batista, A. Kerti, R. Csohany, A. Szabo, O. Arkossy, P. Sallai, V. Moriniere, V. Vega-Warner, O. Lakatos, T. Szabo, G. Reusz, K. Tory, M. Addis, E. Tosetto, C. Meloni, M. Ceol, R. Cristofaro, M. A. Melis, P. Vercelloni, G. Marra, S. Kaniuka, M. Nagel, W. Wolyniec, L. Obolonczyk, R. Swiatkowska-Stodulska, K. Sworczak, B. Rutkowski, C. Chen, L. Jiang, L. Chen, L. Fang, M. Mozes M., M. Boosi, L. Rosivall, G. Kokeny, R. Diana, O. Gross, T. Johanna, G. Rainer, C. Ayse, H. Henrik, M. Gerhard-Anton, M. Nabil, E. Intissar, H. Belge, J. Bloch, K. Dahan, Y. Pirson, P. Vanhille, N. Demoulin
المصدر: Nephrology Dialysis Transplantation. 27:ii320-ii329
مصطلحات موضوعية: Transplantation, Nephrology
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6Academic Journal
المؤلفون: F. N. Ross Cisneros, B. X. Pan, R. A. Silva, N. R. Miller, T. A. Albini, L. Tranebjaerg, N. D. Rendtorff, M. Lodahl, M. N. Moraes Filho, M. N. Moraes, S. R. Salomao, A. Berezovsky, R. Belfort, A. A. Sadun, CARELLI, VALERIO
المساهمون: F. N. Ross-Cisnero, B. X. Pan, R. A. Silva, N. R. Miller, T. A. Albini, L. Tranebjaerg, N. D. Rendtorff, M. Lodahl, M. N. Moraes-Filho, M. N. Morae, S. R. Salomao, A. Berezovsky, R. Belfort, V. Carelli, A. A. Sadun
مصطلحات موضوعية: Adult, Axons, Humans, Male, Membrane Protein, genetics, Mutation, Optic Nerve, pathology, Wolfram Syndrome
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/23748048; info:eu-repo/semantics/altIdentifier/wos/WOS:000327280500036; volume:13; firstpage:841; lastpage:845; numberofpages:5; journal:MITOCHONDRION; http://hdl.handle.net/11585/395819; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84887015445; http://dx.doi.org/10.1016/j.mito.2013.05.013
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المؤلفون: L. Tranebjaerg, Erik Thorsby, E. Groudakova, M. Boldyreva, Anne Spurkland, L Alexeev, I. Evseeva, A Smerdel, I. Gouskova
المصدر: Tissue Antigens. 59:38-43
مصطلحات موضوعية: Genetics, Hla class ii, Immunology, Haplotype, Ethnic group, General Medicine, Human leukocyte antigen, Biochemistry, Geography, HLA-DQ beta-Chains, Evolutionary biology, Close relationship, Immunology and Allergy, Allele, Allele frequency
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المؤلفون: D. Chitayat, Jozef Gecz, William G. Cole, Stephen P. Robertson, Solange Heuertz, David L. Rimoin, Arnold Munnich, Ravi Savarirayan, B.G. Kousseff, I. A. Glass, George E. Tiller, John C. Mulley, Bernhard Zabel, M. Le Merrer, Agi K. Gedeon, Hirofumi Ohashi, L. Tranebjaerg
المصدر: The American Journal of Human Genetics. 68(6):1386-1397
مصطلحات موضوعية: Spondyloepiphyseal dysplasia, Genetic Markers, Male, X Chromosome, Genetic Linkage, Nonsense mutation, DNA Mutational Analysis, Molecular Sequence Data, Biology, medicine.disease_cause, Osteochondrodysplasias, Frameshift mutation, 03 medical and health sciences, Exon, Structure-Activity Relationship, 0302 clinical medicine, medicine, Ethnicity, Genetics, Missense mutation, Humans, Genetics(clinical), Genetic Testing, RNA, Messenger, Genetics (clinical), X chromosome, 030304 developmental biology, 0303 health sciences, Mutation, Bone Development, Polymorphism, Genetic, Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, Racial Groups, Membrane Transport Proteins, Exons, Articles, medicine.disease, Osteochondrodysplasia, Body Height, 3. Good health, Phenotype, Haplotypes, Carrier Proteins, 030217 neurology & neurosurgery, Transcription Factors
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9
المؤلفون: M. L. Brandi, Frank P. Alford, T. T. Tan, Bin Tean Teh, Marilyn K. Walters, Britt Skogseid, L. Tranebjærg, Joseph J. Shepherd, Siew Pheng Chan, A. Khir, Fung Ki Wong, Magnus Nordenskjöld, Albert Beckers, Catherine M. Phelan, A. Zaini, Fabienne Parente, Soili Kytölä, Kerstin Sandelin, Matthew S. Edwards, L. Bergman, B. A. K. Khalid, Shideh Khodaei, D Hurley, Pasi I. Salmela, John L. Stock, Catharina Larsson, Christine Stewart, Nicholas K. Hayward, J. Leisti, M. Warth, John Cardinal, Norman W. Thompson, Filip Farnebo, Sean M. Grimmond, M. Epstein, Günther Weber, R. Jorde, Ginters Silins, David Cameron, J. Menon, Kjell Öberg
المصدر: The Journal of Clinical Endocrinology & Metabolism. 83:2621-2626
مصطلحات موضوعية: Genetics, medicine.medical_specialty, Positional cloning, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Haplotype, Autosomal dominant trait, Biology, medicine.disease, Biochemistry, Frameshift mutation, Endocrinology, Internal medicine, Mutation (genetic algorithm), medicine, Missense mutation, MEN1, Multiple endocrine neoplasia
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المؤلفون: Kirsten Fenger, M Grønbech-Jensen, Thomas Løkkegaard, Sven Asger Sørensen, L Tranebjærg, E Colding-Jørgensen, O.A Henriksen, L Werdelin, Jørgen E. Nielsen, Martin Lauritzen, Lis Hasholt
المصدر: Journal of the Neurological Sciences. 156:152-157
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Nerve Tissue Proteins, Scandinavian and Nordic Countries, Degenerative disease, Atrophy, Trinucleotide Repeats, medicine, Humans, Dementia, Ataxin-3, Aged, Genetics, Genetic heterogeneity, business.industry, Nuclear Proteins, Machado-Joseph Disease, Middle Aged, medicine.disease, Pedigree, Repressor Proteins, Phenotype, Neurology, Anticipation (genetics), Female, Neurology (clinical), Age of onset, business, Trinucleotide repeat expansion, Machado–Joseph disease
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المؤلفون: L Tranebjaerg, Maurice Super, Dian Donnai, Raoul C.M. Hennekam, Alex Magee, Bronwyn Kerr, Jill Clayton-Smith, J Steen-Johnsen, R F Mueller, Louise Brueton, Han G. Brunner
المساهمون: Other departments
المصدر: Clinical dysmorphology, 6(4), 291-302. Lippincott Williams and Wilkins
مصطلحات موضوعية: Male, Cutis marmorata, Cutis marmorata telangiectatica congenita, Pathology and Forensic Medicine, Intellectual Disability, medicine, Humans, Abnormalities, Multiple, Syndactyly, Genetics (clinical), Philtrum, business.industry, Body Weight, Macrocephaly, Infant, Newborn, General Medicine, Anatomy, Syndrome, medicine.disease, Hydrocephalus, body regions, medicine.anatomical_structure, Macrocephaly-capillary malformation, Overgrowth syndrome, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Hemangioma
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المؤلفون: Katrin Kruustük, Olga Zilina, L Tranebjaerg, Rita Teek, Tiia Reimand, Riina Žordania, Kairit Joost, Neeme Tõnisson, Katrin Õunap, Tiina Kahre, Mari Nelis
المصدر: Advances in medical sciences. 58(2)
مصطلحات موضوعية: Proband, Estonia, Male, Adolescent, Hearing loss, Hearing Loss, Sensorineural, Anion Transport Proteins, Connexins, Connexin 30, Medicine, Humans, Clinical significance, Allele, Age of Onset, Child, biology, business.industry, Hearing Tests, Infant, Newborn, Infant, Membrane Transport Proteins, General Medicine, medicine.disease, Connexin 26, RNA, Ribosomal, Sulfate Transporters, Child, Preschool, Cytomegalovirus Infections, biology.protein, Etiology, Sensorineural hearing loss, Female, Age of onset, medicine.symptom, business, Algorithm, GJB6, Algorithms
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المؤلفون: Pertti Sistonen, Pertti Aula, Svante Pääbo, A. DiRienzo, T. Anttinen, Antti Sajantila, Matti Lukka, T. Gedde-Dahl, L. Tranebjaerg, L. Issel-Tarver, Päivi Lahermo, Marja-Liisa Savontaus, L. Beckman
المصدر: Genome Research. 5:42-52
مصطلحات موضوعية: Genetic Markers, Mitochondrial DNA, Nuclear gene, History, Modern 1601, Molecular Sequence Data, Population, Biology, DNA, Mitochondrial, Evolution, Molecular, Gene Frequency, Sequence Homology, Nucleic Acid, Ethnicity, Genetics, Humans, Sequence variation, education, Gene, Finland, Genetics (clinical), Language, Sequence (medicine), education.field_of_study, Base Sequence, Genome, Human, Europe, Evolutionary biology, Sequence motif
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المؤلفون: N D, Rendtorff, I, Schrijver, M, Lodahl, J, Rodriguez-Paris, T, Johnsen, E C, Hansén, L A A, Nickelsen, Z, Tümer, T, Fagerheim, R, Wetke, L, Tranebjaerg
المصدر: Clinical genetics. 84(4)
مصطلحات موضوعية: Genotype, Mutation Rate, Sulfate Transporters, Denmark, Hearing Loss, Sensorineural, Humans, Membrane Transport Proteins, Exons, Introns, Goiter, Nodular
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المؤلفون: M. S. Hansen, L. Tranebjaerg, S. Hilling, J. Jessen, D. Lind
المصدر: American Journal of Medical Genetics. 51:423-427
مصطلحات موضوعية: Male, medicine.medical_specialty, Denmark, Population based, Danish, Age groups, Epidemiology, Prevalence, medicine, Humans, Genetic Testing, Registries, Child, Genetics (clinical), Molecular Epidemiology, business.industry, medicine.disease, language.human_language, Confidence interval, Fragile X syndrome, Fragile X Syndrome, language, Special educational needs, business, Learning disabled, Demography
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المؤلفون: L. Tranebjaerg, Richard J.H. Smith, M. Z. Pelias, J. F. Hejtmancik, Bronya J.B. Keats, Richard A. Lewis, Claes Möller, Charles I. Berlin, William J. Kimberling
المصدر: American Journal of Medical Genetics. 50:32-38
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, MYO7A, Usher syndrome, Usher Syndrome Type 1, medicine.disease, eye diseases, Clinical diagnosis, otorhinolaryngologic diseases, Medicine, business, Genetics (clinical), PCDH15
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المؤلفون: Niels Tommerup, L. Tranebjaerg, T.J. Flint, Kay E. Davies, Mark C. Hirst, Richard H. Lindenbaum, Robin M. Winter, M. V. Bell, A. Roche, Ruth N. MacKinnon, M. Prembrey, Y. Nakahori, B. Kerr, U. Froster-Iskenius, Stephen N. Thibodeau, Patricia A. Jacobs, Gillian Turner
المصدر: Cell. 64:861-866
مصطلحات موضوعية: Male, Genetics, X Chromosome, Genetic Linkage, Genetic Carrier Screening, Chromosomal fragile site, Restriction Mapping, Chromosome Mapping, DNA, Disease, Chromosome Fragility, Methylation, Biology, medicine.disease, General Biochemistry, Genetics and Molecular Biology, Cell Line, Fragile X syndrome, Gene mapping, Fragile X Syndrome, Intellectual Disability, DNA methylation, medicine, Humans, X chromosome
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المؤلفون: L. M. Jensen, L. Tranebjaerg
المصدر: Journal of Obstetrics and Gynaecology. 11:285-289
مصطلحات موضوعية: Genetics, business.industry, Obstetrics and Gynecology, Medicine, Gonadal dysgenesis, Gonadoblastoma, 45,X/46,XY mosaicism, business, medicine.disease, Y chromosome
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المؤلفون: C, Klingenberg, K, Fossen, L, Tranebjaerg
المصدر: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 121(27)
مصطلحات موضوعية: Joint Instability, Male, Pierre Robin Syndrome, Infant, Newborn, Infant, Eye Diseases, Hereditary, Syndrome, Bone and Bones, Diagnosis, Differential, Vitreous Body, Child, Preschool, Face, Exophthalmos, Humans, Abnormalities, Multiple, Female
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المؤلفون: B, Dreyer, L, Tranebjaerg, V, Brox, T, Rosenberg, C, Möller, M, Beneyto, M D, Weston, W J, Kimberling, C W, Cremers, X Z, Liu, O, Nilssen
المصدر: American journal of human genetics. 69(1)
مصطلحات موضوعية: Genotype, Usher syndrome, Biology, Deafness, Polymorphism, Single Nucleotide, Evolution, Molecular, Gene Frequency, Report, Retinitis pigmentosa, medicine, Genetics, otorhinolaryngologic diseases, Humans, Genetics(clinical), Genetic Testing, Allele, Allele frequency, Genetics (clinical), Alleles, Sequence Deletion, Extracellular Matrix Proteins, Geography, Haplotype, Syndrome, medicine.disease, Founder Effect, Haplotypes, Mutagenesis, Mutation (genetic algorithm), Retinitis Pigmentosa, Founder effect, Microsatellite Repeats