المؤلفون: Berry, Vanita, Ionides, Alex, Pontikos, Nikolas, Georgiou, Michalis, Yu, Jing, Ocaka, Louise A, Moore, Anthony T, Quinlan, Roy A, Michaelides, Michel

المصدر: Orphanet Journal of Rare Diseases. 15(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Ophthalmology and Optometry, Aging, Pediatric, Clinical Research, Congenital Structural Anomalies, Eye Disease and Disorders of Vision, 2.1 Biological and endogenous factors, Aetiology, Cataract, Crystallins, DNA Mutational Analysis, Humans, Lens, Crystalline, Mutation, Missense, Pedigree, Autosomal dominant congenital cataract, Next generation sequencing, Other Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9jb250hkTest

المؤلفون: Ocaka, Louise Angwech

الإتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.517181Test

المؤلفون: del Valle, Ignacio, Le Quesne, Polona, Bellutti, Laura, Garcia-Alonso, Luz, Ocaka, Louise, A, Ishida, Miho, Suntharalingham, Jenifer, P, Gagunashvili, Andrey, Ogunbiyi, Olumide, K, Mistry, Talisa, Buonocore, Federica, Crespo, Berta, Moreno, Nadjeda, Niola, Paola, Brooks, Tony, Brain, Caroline, E, Dattani, Mehul, T, Kelberman, Daniel, Vento-Tormo, Roser, Lagos, Carlos, F, Conway, Gerard, S, Achermann, John, C

المساهمون: Université Paris Cité (UPCité)

المصدر: ISSN: 2379-3708 ; JCI Insight ; https://hal.science/hal-04506407Test ; JCI Insight, 2022.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: hal-04506407; https://hal.science/hal-04506407Test; https://hal.science/hal-04506407/documentTest; https://hal.science/hal-04506407/file/jciinsight-7-154671%20%281%29.pdfTest

الإتاحة: https://hal.science/hal-04506407Test
https://hal.science/hal-04506407/documentTest
https://hal.science/hal-04506407/file/jciinsight-7-154671%20%281%29.pdfTest

المؤلفون: McGlacken-Byrne, Sinéad M., Le Quesne Stabej, Polona, Del Valle, Ignacio, Ocaka, Louise, Gagunashvili, Andrey, Crespo, Berta, Moreno, Nadjeda, James, Chela, Bacchelli, Chiara, Dattani, Mehul T., Williams, Hywel J., Kelberman, Dan, Achermann, John C., Conway, Gerard S.

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/144091/1/WILLIAMS,%20HYWEL%20-%20ZSWIM7%20is%20associated%20with%20human%20female%20meiosis%20and%20familial%20primary%20ovarian%20insufficiency.pdfTest; McGlacken-Byrne, Sinéad M., Le Quesne Stabej, Polona, Del Valle, Ignacio, Ocaka, Louise, Gagunashvili, Andrey, Crespo, Berta, Moreno, Nadjeda, James, Chela, Bacchelli, Chiara, Dattani, Mehul T., Williams, Hywel J. https://orca.cardiff.ac.uk/view/cardiffauthors/A069945P.htmlTest orcid:0000-0001-7758-0312 orcid:0000-0001-7758-0312, Kelberman, Dan, Achermann, John C. and Conway, Gerard S. 2022. ZSWIM7 Is associated with human female meiosis and familial primary ovarian insufficiency. Journal of Clinical Endocrinology and Metabolism 107 (1) , e254-e263. 10.1210/clinem/dgab597 https://doi.org/10.1210/clinem%2Fdgab597Test file https://orca.cardiff.ac.uk/id/eprint/144091/1/WILLIAMS,%20HYWEL%20-%20ZSWIM7%20is%20associated%20with%20human%20female%20meiosis%20and%20familial%20primary%20ovarian%20insufficiency.pdfTest

الإتاحة: https://doi.org/10.1210/clinem/dgab597Test
https://orca.cardiff.ac.uk/id/eprint/144091Test/
https://orca.cardiff.ac.uk/id/eprint/144091/1/WILLIAMS,%20HYWEL%20-%20ZSWIM7%20is%20associated%20with%20human%20female%20meiosis%20and%20familial%20primary%20ovarian%20insufficiency.pdfTest

المؤلفون: McGlacken-Byrne, Sinead M, del Valle, Ignacio, Stabej, Polona Le Quesne, Bellutti, Laura, Garcia-Alonso, Luz, Ocaka, Louise A, Ishida, Miho, Suntharalingham, Jenifer P, Gagunashvili, Andrey, Ogunbiyi, Olumide K, Mistry, Talisa, Buonocore, Federica, Crespo, Berta, Moreno, Nadjeda, Niola, Paola, Brooks, Tony, Brain, Caroline E, Dattani, Mehul T, Kelberman, Daniel, Vento-Tormo, Roser, Lagos, Carlos F, Livera, Gabriel, Conway, Gerard S, Achermann, John C

المصدر: JCI Insight , 7 (5) , Article e154671. (2022)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Medicine, Research & Experimental, Research & Experimental Medicine, PROTEIN, EXPRESSION, TRANSCRIPTOME, MEIOSIS, DYNAMICS, PROGRAM, COMPLEX, CANCER, DOMAIN, CELLS

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10147264/1/Pathogenic%20variants%20in%20the%20human%20m6A%20reader%20YTHDC2%20are%20associated%20with%20primary%20ovarian%20insufficiency.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10147264Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10147264/1/Pathogenic%20variants%20in%20the%20human%20m6A%20reader%20YTHDC2%20are%20associated%20with%20primary%20ovarian%20insufficiency.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10147264Test/

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: Mackay, Donna S, Borman, Arundhati Dev, Sui, Ruifang, Born, L Ingeborgh, Berson, Eliot L, Ocaka, Louise A, Davidson, Alice E, Heckenlively, John R, Branham, Kari, Ren, Huanan, Lopez, Irma, Maria, Maleeha, Azam, Maleeha, Henkes, Arjen, Blokland, Ellen, Group, LCA5 Study, Andreasson, Sten, Baere, Elfride, Bennett, Jean, Chader, Gerald J, Berger, Wolfgang, Golovleva, Irina, Greenberg, Jacquie, Hollander, Anneke I, Klaver, Caroline CW, Klevering, B Jeroen, Lorenz, Birgit, Preising, Markus N, Ramesar, Raj, Roberts, Lisa, Roepman, Ronald, Rohrschneider, Klaus, Wissinger], Bernd, Qamar, Raheel, Webster, Andrew R, Cremers, Frans PM, Moore, Anthony T, Koenekoop, Robert K

المصدر: Human Mutation. 34(11)

مصطلحات موضوعية: Eye Disease and Disorders of Vision, Neurosciences, Clinical Research, Genetics, Neurodegenerative, Pediatric, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Eye, Adolescent, Adult, Alleles, Child, Child, Preschool, Consanguinity, Eye Proteins, Female, Fluorescein Angiography, Genetic Association Studies, Genotype, Humans, Infant, Infant, Newborn, Leber Congenital Amaurosis, Male, Microtubule-Associated Proteins, Middle Aged, Mutation, Pedigree, Phenotype, Retina, Retinitis Pigmentosa, Young Adult, [LCA5 Study Group, LCA, LCA5, RP, blindness, lebercilin, retinal dystrophy, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7m72w402Test

المؤلفون: Whittaker, Danielle E., Oleari, Roberto, Gregory, Louise C., Le Quesne Stabej, Polona, Williams, Hywel J., Torpiano, John G., Formosa, Nancy, Cachia, Mario J., Field, Daniel, Lettieri, Antonella, Ocaka, Louise A., Paganoni, Alyssa J.J., Rajabali, Sakina H., Riegman, Kimberley L.H., De Martini, Lisa B., Chaya, Taro, Robinson, Iain C., Furukawa, Takahisa, Cariboni, Anna, Basson, M. Albert, Dattani, Mehul T.

المصدر: Whittaker , D E , Oleari , R , Gregory , L C , Le Quesne Stabej , P , Williams , H J , Torpiano , J G , Formosa , N , Cachia , M J , Field , D , Lettieri , A , Ocaka , L A , Paganoni , A J J , Rajabali , S H , Riegman , K L H , De Martini , L B , Chaya , T , Robinson , I C , Furukawa , T , Cariboni , A , Basson , M A & Dattani , ....

الإتاحة: https://doi.org/10.1172/JCI141587Test
https://kclpure.kcl.ac.uk/portal/en/publications/76ef4251-e2d3-4b1b-85d0-8dd9619f5c37Test
https://www.jci.org/articles/view/141587Test
http://www.scopus.com/inward/record.url?scp=85122454479&partnerID=8YFLogxKTest

المؤلفون: Mathieu, Hélène, Patten, Shunmoogum A., Aragon-Martin, Jose Antonio, Ocaka, Louise, Simpson, Michael, Child, Anne, Moldovan, Florina

المصدر: Mathieu , H , Patten , S A , Aragon-Martin , J A , Ocaka , L , Simpson , M , Child , A & Moldovan , F 2021 , ' Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family ' , Scientific Reports , vol. 11 , no. 1 , 11026 . https://doi.org/10.1038/s41598-021-90155-0Test

الإتاحة: https://doi.org/10.1038/s41598-021-90155-0Test
https://kclpure.kcl.ac.uk/portal/en/publications/4c954d39-337d-46ba-8f31-a2010471a0c0Test
http://www.scopus.com/inward/record.url?scp=85106953634&partnerID=8YFLogxKTest

المؤلفون: Gagunashvili, Andrey N., Ocaka, Louise, Kelberman, Daniel, Munot, Pinki, Bacchelli, Chiara, Beales, Philip L., Ganesan, Vijeya

المصدر: Human Genome Variation ; volume 6, issue 1 ; ISSN 2054-345X

مصطلحات موضوعية: Genetics, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1038/s41439-019-0066-6Test
https://www.nature.com/articles/s41439-019-0066-6.pdfTest
https://www.nature.com/articles/s41439-019-0066-6Test