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1دورية أكاديمية
المؤلفون: D. M. Walsh, S. H. Shah, M. A. Simpson, N. V. Morgan, S. Khaliq, R. C. Trembath, S. Q. Mehdi, E. R. Maher
المصدر: Scientifica, Vol 2012 (2012)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2090-908X
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المؤلفون: R E, Harrison, J A, Flanagan, M, Sankelo, S A, Abdalla, J, Rowell, R D, Machado, C G, Elliott, I M, Robbins, H, Olschewski, V, McLaughlin, E, Gruenig, F, Kermeen, M, Halme, A, Räisänen-Sokolowski, T, Laitinen, N W, Morrell, R C, Trembath
المصدر: Journal of Medical Genetics. 40:865-871
مصطلحات موضوعية: Adult, Male, Models, Molecular, Adolescent, Activin Receptors, Type II, Hypertension, Pulmonary, DNA Mutational Analysis, Mutant, Mutation, Missense, Vascular Cell Adhesion Molecule-1, Receptors, Cell Surface, Protein Serine-Threonine Kinases, 030204 cardiovascular system & hematology, Biology, Bone Morphogenetic Protein Receptors, Type II, Endoplasmic Reticulum, medicine.disease_cause, 03 medical and health sciences, Exon, 0302 clinical medicine, Antigens, CD, hemic and lymphatic diseases, otorhinolaryngologic diseases, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Amino Acid Sequence, Gene, Genetics (clinical), Aged, 030304 developmental biology, 0303 health sciences, Mutation, Endoglin, Middle Aged, medicine.disease, Pulmonary hypertension, 3. Good health, BMPR2, Structural Homology, Protein, Female, Telangiectasia, Hereditary Hemorrhagic, Original Article, Activin Receptors, Type I
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3
المؤلفون: P, Makrythanasis, B W, van Bon, M, Steehouwer, B, Rodríguez-Santiago, M, Simpson, P, Dias, B M, Anderlid, P, Arts, M, Bhat, B, Augello, E, Biamino, E M H F, Bongers, M, Del Campo, I, Cordeiro, A M, Cueto-González, I, Cuscó, C, Deshpande, E, Frysira, L, Izatt, R, Flores, E, Galán, B, Gener, C, Gilissen, S M, Granneman, J, Hoyer, H G, Yntema, C M, Kets, D A, Koolen, C l, Marcelis, A, Medeira, L, Micale, S, Mohammed, S A, de Munnik, A, Nordgren, S, Psoni, W, Reardon, N, Revencu, T, Roscioli, M, Ruiterkamp-Versteeg, H G, Santos, J, Schoumans, J H M, Schuurs-Hoeijmakers, M C, Silengo, L, Toledo, T, Vendrell, I, van der Burgt, B, van Lier, C, Zweier, A, Reymond, R C, Trembath, L, Perez-Jurado, J, Dupont, B B A, de Vries, H G, Brunner, J A, Veltman, G, Merla, S E, Antonarakis, A, Hoischen
المصدر: Clinical Genetics, Vol. 84, No 6 (2013) pp. 539-545
مصطلحات موضوعية: Male, Kabuki syndrome, Facies, Niikawa–Kuroki syndrome, Sequence Analysis, DNA, genotype–phenotype correlation, Hematologic Diseases, Neoplasm Proteins, DNA-Binding Proteins, Phenotype, Vestibular Diseases, Face, Mutation, MLL2, Humans, ddc:576.5, Abnormalities, Multiple, Female, Genetic Association Studies
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4
المؤلفون: J. M. van den Ouweland, H. H. Lemkes, R. C. Trembath, R. Ross, G. Velho, D. Cohen, P. Froguel, J. A. Maassen
المصدر: Diabetes. 43:746-751
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Internal Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::16d6ad0661d926f2b627d41489193ff0
https://doi.org/10.2337/diabetes.43.6.746 -
5
المؤلفون: R. C. Trembath, J. I. Harper
المصدر: Rook's Textbook of Dermatology, Seventh Edition
مصطلحات موضوعية: Genetics, Nosology, business.industry, Genetic counseling, Medicine, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::573a8e11260650c3a7010a51ccfa5933
https://doi.org/10.1002/9780470750520.ch12 -
6
المؤلفون: F, Capon, J, Bharkhada, N E, Cochrane, N J, Mortimer, J F, Setterfield, S, Reynaert, M M, Black, R W, Vaughan, R C, Trembath, K E, Harman
المصدر: The British journal of dermatology. 154(1)
مصطلحات موضوعية: Desmoglein 3, Genotype, Haplotypes, Risk Factors, Case-Control Studies, Humans, Genetic Predisposition to Disease, HLA-DR Antigens, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Pemphigus, HLA-DRB1 Chains
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المؤلفون: C, Young, M H, Allen, A, Cuthbert, M, Ameen, C, Veal, J, Leman, A D, Burden, B, Kirby, C E M, Griffiths, R C, Trembath, C G, Mathew, J N W N, Barker
المصدر: Experimental dermatology. 12(4)
مصطلحات موضوعية: Adult, Male, Polymorphism, Genetic, Adolescent, Base Sequence, Genotype, Intracellular Signaling Peptides and Proteins, Nod2 Signaling Adaptor Protein, Infant, DNA, Middle Aged, Cohort Studies, Crohn Disease, Gene Frequency, Case-Control Studies, Child, Preschool, Mutation, Humans, Psoriasis, Female, Carrier Proteins, Child, Aged
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المؤلفون: L M, Luxon, M, Cohen, R A, Coffey, P D, Phelps, K E, Britton, H, Jan, R C, Trembath, W, Reardon
المصدر: International journal of audiology. 42(2)
مصطلحات موضوعية: Adult, Male, Perchlorates, Adolescent, Hearing Loss, Sensorineural, Syndrome, Middle Aged, Severity of Illness Index, Sodium Compounds, Thyroid Diseases, Reflex, Acoustic, Ear, Inner, Audiometry, Pure-Tone, Humans, Female, Vestibule, Labyrinth, Child, Iodine
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المؤلفون: M A, Aldred, R C, Trembath
المصدر: Human mutation. 16(3)
مصطلحات موضوعية: Gene Expression Regulation, Neoplastic, Oncogene Proteins, Mutation, GTP-Binding Protein alpha Subunits, Gs, Humans, Fibrous Dysplasia, Polyostotic
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المؤلفون: R D, Machado, M W, Pauciulo, N, Fretwell, C, Veal, J R, Thomson, C, Vilariño Güell, M, Aldred, C A, Brannon, R C, Trembath, W C, Nichols
المصدر: Genomics. 68(2)
مصطلحات موضوعية: Expressed Sequence Tags, Family Health, Male, Genotype, Transcription, Genetic, Genetic Linkage, Hypertension, Pulmonary, DNA, Chromosomes, Bacterial, Physical Chromosome Mapping, Pedigree, Contig Mapping, Haplotypes, Chromosomes, Human, Pair 2, Humans, Female, Genetic Predisposition to Disease, Bacteriophage P1, Chromosomes, Artificial, Yeast, Microsatellite Repeats, Sequence Tagged Sites