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1Academic Journal
المؤلفون: Dyment, D. A. (David A.), O'Donnell-Luria, A. (Anne), Agrawal, P. B. (Pankaj B.), Coban Akdemir, Z. (Zeynep), Aleck, K. A. (Kyrieckos A.), Antaki, D. (Danny), Al Sharhan, H. (Hind), Au, P. B. (Ping-Yee B.), Aydin, H. (Hatip), Beggs, A. H. (Alan H.), Bilguvar, K. (Kaya), Boerwinkle, E. (Eric), Brand, H. (Harrison), Brownstein, C. A. (Catherine A.), Buyske, S. (Steve), Chodirker, B. (Bernard), Choi, J. (Jungmin), Chudley, A. E. (Albert E.), Clericuzio, C. L. (Carol L.), Cox, G. F. (Gerald F.), Curry, C. (Cynthia), De Boer, E. (Elke), De Vries, B. B. (Bert B. A.), Dunn, K. (Kathryn), Dutmer, C. M. (Cullen M.), England, E. M. (Eleina M.), Fahrner, J. A. (Jill A.), Geckinli, B. B. (Bilgen B.), Genetti, C. A. (Casie A.), Gezdirici, A. (Alper), Gibson, W. T. (William T.), Gleeson, J. G. (Joseph G.), Greenberg, C. R. (Cheryl R.), Hall, A. (April), Hamosh, A. (Ada), Hartley, T. (Taila), Jhangiani, S. N. (Shalini N.), Karaca, E. (Ender), Kernohan, K. (Kristin), Lauzon, J. L. (Julie L.), Lewis, M. E. (M. E. Suzanne), Lowry, R. B. (R. Brian), López-Giráldez, F. (Francesc), Matise, T. C. (Tara C.), McEvoy-Venneri, J. (Jennifer), McInnes, B. (Brenda), Mhanni, A. (Aziz), Garcia Minaur, S. (Sixto), Moilanen, J. (Jukka), Nguyen, A. (An), Nowaczyk, M. J. (Malgorzata J. M.), Posey, J. E. (Jennifer E.), Õunap, K. (Katrin), Pehlivan, D. (Davut), Pajusalu, S. (Sander), Penney, L. S. (Lynette S.), Poterba, T. (Timothy), Prontera, P. (Paolo), Rodovalho Doriqui, M. J. (Maria Juliana), Sawyer, S. L. (Sarah L.), Sobreira, N. (Nara), Stanley, V. (Valentina), Torun, D. (Deniz), Wargowski, D. (David), Witmer, P. D. (P. Dane), Wong, I. (Isaac), Xing, J. (Jinchuan), Zaki, M. S. (Maha S.), Zhang, Y. (Yeting), C. C. (Care4Rare Consortium), C. F. (Centers For Mendelian Genomics), Boycott, K. M. (Kym M.), Bamshad, M. J. (Michael J.), Nickerson, D. A. (Deborah A.), Blue, E. E. (Elizabeth E.), Innes, A. M. (A. Micheil)
مصطلحات موضوعية: Dubowitz syndrome, exome sequencing, genetic heterogeneity, genome sequencing, microarray
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: Pillai, Mary B., Lowry, R. B.
المصدر: BMJ: British Medical Journal, 2002 May 01. 324(7345), 1096-1097.
URL الوصول: https://www.jstor.org/stable/25228209
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3Dissertation/ Thesis
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4Academic Journal
المؤلفون: Pillai, Mary B, Lowry, R B
مصطلحات موضوعية: LETTERS
وصف الملف: text/html
Relation: http://www.bmj.com/cgi/content/short/324/7345/1096; http://dx.doi.org/10.1136/bmj.324.7345.1096
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5Academic Journal
المؤلفون: Meloni, I, Vitelli, F, Pucci, L, Lowry, R B, Tonlorenzi, R, Rossi, E, Ventura, M, Rizzoni, G, Kashtan, C E, Pober, B, Renieri, A
مصطلحات موضوعية: Letters to JMG
وصف الملف: text/html
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6Academic Journal
المؤلفون: Griffiths, A. J. F., Lowry, R. B., Renwick, D. H. G.
المصدر: Environmental Health Perspectives, 1979 Aug 01. 31, 9-11.
URL الوصول: https://www.jstor.org/stable/3429134
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7Academic Journal
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8Academic Journal
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9Academic Journal
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10Book
المؤلفون: Tischler, B., Lowry, R. B.
المصدر: Inborn Errors of Metabolism in Man ; Monographs in Human Genetics ; page 102-107 ; ISSN 0077-0876 1662-3835 ; ISBN 9783805528368 9783318040012
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11Academic Journal
المؤلفون: Lowry, R. B., Miller, James R.
المصدر: The British Medical Journal, 1967 Jun . 2(5555), 842-842.
URL الوصول: https://www.jstor.org/stable/20388533
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12Academic Journal
المؤلفون: D'haene, B., Courtens, Winnie, Nevado, J., Pugeat, M., Pierquin, G., Lowry, R. B., Reardon, W., Delicado, A., Garcia-Minaur, S., Palomares, M., Stefanova, M., Wallace, S., Watkins, W., Shelling, A. N., Wieczorek, D., Veitia, R. A., De Paepe, A., Lapunzina, P., De Baere, E.
المساهمون: UCL - Cliniques universitaires Saint-Luc
المصدر: Human Mutation, Vol. 31, no. 5, p. E1332-+ (2010)
مصطلحات موضوعية: FOXL2, BPES, gene deletion, genotype-phenotype correlations
Relation: boreal:33690; http://hdl.handle.net/2078.1/33690; urn:ISSN:1059-7794; urn:EISSN:1098-1004
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13Academic Journal
المؤلفون: Lehman, A. M., Eydoux, P., Doherty, D., Glass, I. A., Chitayat, D., Chung, B. Y. H., Langlois, S., Yong, S. L., Lowry, R. B., Hildebrandt, Friedhelm, Trnka, P.
المساهمون: Howard Hughes Medical Institute, Departments of Pediatrics and Human Genetics, University of Michigan, Ann Arbor, Michigan, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada, Department of Pathology, University of British Columbia, Vancouver, BC, Canada, Department of Pediatrics, University of Washington, Seattle, Washington, Division of Clinical Genetics, University of Toronto, Ontario, Departments of Medical Genetics and Pediatrics, University of Calgary, Calgary, Alberta, Canada, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada, Clinical Assistant Professor, Pediatric Nephrology, Department of Pediatrics, University of British Columbia, BC Children's Hospital, ACB, K4–152, 4480, Vancouver, BC V6H3V4.
مصطلحات موضوعية: Life and Medical Sciences, Genetics, Health Sciences
وصف الملف: 223838 bytes; 3118 bytes; application/pdf; text/plain
Relation: Lehman, A.M.; Eydoux, P.; Doherty, D.; Glass, I.A.; Chitayat, D.; Chung, B.Y.H.; Langlois, S.; Yong, S.L.; Lowry, R.B.; Hildebrandt, F.; Trnka, P. (2010). "Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy." American Journal of Medical Genetics Part A 152A(6): 1411-1419.; https://hdl.handle.net/2027.42/75791; American Journal of Medical Genetics Part A
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14Academic Journal
المؤلفون: Lowry, R. B.
المصدر: American Journal of Medical Genetics ; volume 37, issue S6, page 73-76 ; ISSN 0148-7299 1096-8628
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15Academic Journal
المؤلفون: Alagramam, K N, Yuan, H, Kuehn, M H, Murcia, C L, Wayne, S, Srisailpathy, C R, Lowry, R B, Knaus, R, Van Laer, L, Bernier, F P, Schwartz, S, Lee, C, Morton, C C, Mullins, R F, Ramesh, A, Van Camp, G, Hageman, G S, Woychik, R P, Smith, R J, Hagemen, G S
المصدر: Alagramam , K N , Yuan , H , Kuehn , M H , Murcia , C L , Wayne , S , Srisailpathy , C R , Lowry , R B , Knaus , R , Van Laer , L , Bernier , F P , Schwartz , S , Lee , C , Morton , C C , Mullins , R F , Ramesh , A , Van Camp , G , Hageman , G S , Woychik , R P , Smith , R J & Hagemen , G S 2001 , ' Mutations in the ....
مصطلحات موضوعية: Adult, Amino Acid Sequence, Animals, Blotting, Northern, Western, Cadherins, Cochlea, DNA Mutational Analysis, Deafness, Female, Fetus, Gene Expression Profiling, Genetic Linkage, Humans, In Situ Hybridization, Fluorescence, Male, Mice, Molecular Sequence Data, Mutation, Pedigree, Polymorphism, Single-Stranded Conformational, Protein Precursors, Retina, Reverse Transcriptase Polymerase Chain Reaction, Sequence Homology, Amino Acid, Syndrome
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16Electronic Resource
المؤلفون: UCL - Cliniques universitaires Saint-Luc, D'haene, B., Courtens, Winnie, Nevado, J., Pugeat, M., Pierquin, G., Lowry, R. B., Reardon, W., Delicado, A., Garcia-Minaur, S., Palomares, M., Stefanova, M., Wallace, S., Watkins, W., Shelling, A. N., Wieczorek, D., Veitia, R. A., De Paepe, A., Lapunzina, P., De Baere, E.
المصدر: Human Mutation, Vol. 31, no. 5, p. E1332-+ (2010)
مصطلحات الفهرس: FOXL2, BPES, gene deletion, genotype-phenotype correlations, info:eu-repo/semantics/article
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17Academic Journal
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18Academic Journal
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19Academic Journal
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20Academic Journal
المؤلفون: Lowry, R. B., Jones, D. C., Renwick, D. H. G., Trimble, B. K.
المصدر: Teratology ; volume 14, issue 1, page 29-34 ; ISSN 0040-3709 1096-9926
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