المؤلفون: Waters, Aoife M, Asfahani, Rowan, Carroll, Paula, Bicknell, Louise, Lescai, Francesco, Bright, Alison, Chanudet, Estelle, Brooks, Anthony, Christou-Savina, Sonja, Osman, Guled, Walsh, Patrick, Bacchelli, Chiara, Chapgier, Ariane, Vernay, Bertrand, Bader, David M, Deshpande, Charu, O' Sullivan, Mary, Ocaka, Louise, Stanescu, Horia, Stewart, Helen S, Hildebrandt, Friedhelm, Otto, Edgar, Johnson, Colin A, Szymanska, Katarzyna, Katsanis, Nicholas, Davis, Erica, Kleta, Robert, Hubank, Mike, Doxsey, Stephen, Jackson, Andrew, Stupka, Elia, Winey, Mark, Beales, Philip L

المصدر: Journal of Medical Genetics. 52(3)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Pediatric, Human Genome, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Animals, Centrioles, Chromosomal Proteins, Non-Histone, Cilia, Exome, Female, Fetus, Genetics, Medical, HEK293 Cells, High-Throughput Nucleotide Sequencing, Humans, Male, Mice, Microcephaly, Microfilament Proteins, Mutation, NIH 3T3 Cells, Pedigree, Pregnancy, Zebrafish, CENPF, Ciliopathy, Clinical genetics, Molecular genetics, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0xw767c6Test

المؤلفون: Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yoann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O'Sullivan, James, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, CORDELLI, DUCCIO MARIA, De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E. G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, Van Der Knaap, Marjo S., Livingston, John H., O'Keefe, Raymond T., Crow, Yanick J.

المساهمون: Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yoann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O'Sullivan, Jame, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E. G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, Van Der Knaap, Marjo S., Livingston, John H., O'Keefe, Raymond T., Crow, Yanick J.

مصطلحات موضوعية: Adolescent, Adult, Calcinosi, Cell Line, Cerebral Small Vessel Disease, Child, Preschool, Chromosomes, Human, Pair 17, Cohort Studie, Cyst, Exome, Female, Genetic Linkage, Genome, Infant, Leukoencephalopathie, Male, Middle Aged, RNA, Small Nucleolar, Sequence Analysis, DNA, Young Adult, Mutation, Genetics

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27571260; info:eu-repo/semantics/altIdentifier/wos/WOS:000384391600013; volume:48; issue:10; firstpage:1185; lastpage:1192; numberofpages:8; journal:NATURE GENETICS; http://hdl.handle.net/11585/635698Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84984623213; http://www.nature.com/ng/index.htmlTest

الإتاحة: https://doi.org/10.1038/ng.3661Test
http://hdl.handle.net/11585/635698Test
http://www.nature.com/ng/index.htmlTest

المؤلفون: Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yoann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O'Sullivan, James, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E.G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, van der Knaap, Marjo S., Livingston, John H., O'Keefe, Raymond T., Crow, Yanick J.

المصدر: Jenkinson , E M , Rodero , M P , Kasher , P R , Uggenti , C , Oojageer , A , Goosey , L C , Rose , Y , Kershaw , C J , Urquhart , J E , Williams , S G , Bhaskar , S S , O'Sullivan , J , Baerlocher , G M , Haubitz , M , Aubert , G , Barañano , K W , Barnicoat , A J , Battini , R , Berger , A , Blair , E M , Brunstrom-Hernandez , J E , Buckard , ....

العلاقة: https://research.vumc.nl/en/publications/54152b10-e315-41eb-8680-02d055dcc8eeTest

الإتاحة: https://doi.org/10.1038/ng0217-317bTest
https://research.vumc.nl/en/publications/54152b10-e315-41eb-8680-02d055dcc8eeTest
http://www.scopus.com/inward/record.url?scp=85064772725&partnerID=8YFLogxKTest

المؤلفون: Stewart, Helen S, Parveen, Rahat, Ridgway, Alan E, Bonshek, Richard, Black, Graeme C M

مصطلحات موضوعية: Original articles - Clinical science

وصف الملف: text/html

العلاقة: http://bjo.bmj.com/cgi/content/short/84/4/390Test; http://dx.doi.org/10.1136/bjo.84.4.390Test

الإتاحة: https://doi.org/10.1136/bjo.84.4.390Test
http://bjo.bmj.com/cgi/content/short/84/4/390Test

المؤلفون: Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yoann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David M, Caumes, Rosaline, Cordelli, Duccio M, De Waele, Liesbeth M, Fay, Alexander J, Ferreira, Patrick, Fletcher, Nicholas A, Fryer, Alan E, Goel, Himanshu, Hemingway, Cheryl A, Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenço, Charles M, Malpas, Timothy J, Mehta, Sarju G, Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H, Sinnathuray, Kanaga R, Soh, Calvin, Stewart, Helen S, Stone, John, Van Esch, Hilde, Van Mol, Christine E G, Vanderver, Adeline, Wakeling, Emma L, Whitney, Andrea, Pavitt, Graham D, Griffiths-Jones, Sam, Rice, Gillian I, Revy, Patrick, van der Knaap, Marjo S, Livingston, John H, O'Keefe, Raymond T, Crow, Yanick J

المصدر: Jenkinson, Emma M; Rodero, Mathieu P; Kasher, Paul R; Uggenti, Carolina; Oojageer, Anthony; Goosey, Laurence C; Rose, Yoann; Kershaw, Christopher J; Urquhart, Jill E; Williams, Simon G; Bhaskar, Sanjeev S; O'Sullivan, James; Baerlocher, Gabriela M.; Haubitz, Monika; Aubert, Geraldine; Barañano, Kristin W; Barnicoat, Angela J; Battini, Roberta; Berger, Andrea; Blair, Edward M; . (2017). Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nature genetics, 49(2), p. 317. Nature America 10.1038/ng0217-317b

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/100064Test/

الإتاحة: https://doi.org/10.1038/ng0217-317bTest
https://boris.unibe.ch/100064/1/GMB_Corrigendum_Mutations%20in%20SNORD118.pdfTest
https://boris.unibe.ch/100064Test/

المؤلفون: Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yohann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M, Haubitz, Monika, Aubert, Gerardine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David, Caumes, Rosaline, Cordelli, Duccio M, De Waele LMH, Liesbeth, Fay, Alexander J, Ferreira, Patrick, Fletcher, Nicholas A, Fryer, Alan E, Goel, Himanshu, Hemingway, Cheryl A, Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenço, Charles M, Malpas, Timothy J, Mehta, Sarju G, Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Geraldine, Schiffmann, Raphael, Sherr, Elliott H, Sinnathuray, Kanaga R, Soh, Calvin, Stewart, Helen S, Stone, John, Van Esch, Hilde, Van Mol, Christine E G, Vanderver, Adeline, Wakeling, Emma L, Whitney, Andrea, Pavitt, Graham D, Griffiths-Jones, Sam, Rice, Gillian I, Revy, Patrick, van der Knaap, Marjo S, Livingston, John H, O'Keefe, Raymond T, Crow, Yanick J

وصف الملف: 1356374 bytes; application/pdf

العلاقة: Nature Genetics vol:48 issue:10; https://lirias.kuleuven.be/handle/123456789/548778Test; https://lirias.kuleuven.be/bitstream/123456789/548778/1//Jenkinson+Nat+Genet+2016.pdfTest

الإتاحة: https://lirias.kuleuven.be/handle/123456789/548778Test
https://lirias.kuleuven.be/bitstream/123456789/548778/1//Jenkinson+Nat+Genet+2016.pdfTest

المؤلفون: Fuchs-Telem, D., Stewart, Helen S., Rapaport, Doron, Nousbeck, J., Gat, A., Gini, M., Lugassy, Y., Emmert, Steffen, Eckl, K., Hennies, Hans Christian, Sarig, Ofer, Goldsher, D., Meilik, B., Ishida-Yamamoto, A., Horowitz, Mia, Sprecher, Eli

العلاقة: https://resolver.sub.uni-goettingen.de/purl?gro-2/23707Test; 000288076200024

الإتاحة: https://doi.org/10.1111/j.1365-2133.2010.10133.xTest
https://resolver.sub.uni-goettingen.de/purl?gro-2/23707Test

المؤلفون: Babbs, Christian, Stewart, Helen S., Williams, Louise J., Connell, Lyndsey, Goriely, Anne, Twigg, Stephen R.F., Smith, Kim, Lester, Tracy, Wilkie, Andrew O.M.

المصدر: Human Mutation; Aug2011, Vol. 32 Issue 8, p930-938, 9p

المؤلفون: Stewart, Helen S., Parveen, Rahat, Ridgway, Alan E., Bonshek, Richard, Black, Graeme C. M.

المصدر: British Journal of Ophthalmology; Apr2000, p390-394, 5p

المؤلفون: Stewart, Helen S., Ridgway, Alan E., Dixon, Michael J., Bonshek, Richard, Parveen, Rahat, Black, Graeme

المصدر: Human Mutation; 1999, Vol. 14 Issue 2, p126-132, 7p