المؤلفون: Salter, Claire G, Cai, Yiying, Lo, Bernice, Helman, Guy, Taylor, Henry, McCartney, Amber, Leslie, Joseph S, Accogoli, Andrea, Zara, Frederico, Traverso, Monica, Fasham, James, Lees, Joshua A, Ferla, Matteo, Chioza, Barry A, Wenger, Olivia, Scott, Ethan, Cross, Harold E, Crawford, Joanna, Warshawsky, Ilka, Keisling, Matthew, Agamanolis, Dimitris, Melver, Catherine Ward, Cox, Helen, Elawad, Mamoun, Marton, Tamas, Wakeling, Matthew, Holzinger, Dirk, Tippelt, Stephan, Munteanu, Martin, Valcheva, Deyana, Deal, Christin, Van Meerbeke, Sara, Vockley, Catherine Walsh, Butte, Manish J, Acar, Utkucan, van der Knaap, Marjo S, Korenke, G Christoph, Kotzaeridou, Urania, Balla, Tamas, Simons, Cas, Uhlig, Holm H, Crosby, Andrew H, De Camilli, Pietro, Wolf, Nicole I, Baple, Emma L

المصدر: Brain. 144(12)

مصطلحات موضوعية: Digestive Diseases, Pediatric, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Underpinning research, Oral and gastrointestinal, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Intestinal Atresia, Male, Minor Histocompatibility Antigens, Pedigree, Phosphotransferases (Alcohol Group Acceptor), Polymorphism, Single Nucleotide, Primary Immunodeficiency Diseases, hypomyelinating leukodystrophy, multiple intestinal atresia, PI4KA, FAM126A, TTC7A, PI4KA, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9g7991s4Test

المؤلفون: Fasham, James, Arno, Gavin, Lin, Siying, Xu, Mingchu, Carss, Keren J, Hull, Sarah, Lane, Amelia, Robson, Anthony G, Wenger, Olivia, Self, Jay E, Harlalka, Gaurav V, Salter, Claire G, Schema, Lynn, Moss, Timothy J, Cheetham, Michael E, Moore, Anthony T, Raymond, F Lucy, Chen, Rui, Baple, Emma L, Webster, Andrew R, Crosby, Andrew H, Consortium, NIHR Bioresource Rare Diseases

المصدر: American Journal of Medical Genetics Part A. 179(8)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Adolescent, Adult, Carrier Proteins, Child, Consanguinity, DNA Mutational Analysis, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Pedigree, Phenotype, Young Adult, Brachydactyly, CCNA2-CDK2, Intellectual disability, Retinitis pigmentosa, SCAPER, NIHR Bioresource Rare Diseases Consortium, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/28q3v47sTest

المؤلفون: Levitin, Maria O., Rawlins, Lettie E., Sanchez-Andrade, Gabriela, Arshad, Osama A., Collins, Stephan C., Sawiak, Stephen J., Iffland, Phillip H., Andersson, Malin H.L., Bupp, Caleb, Cambridge, Emma L., Coomber, Eve L., Ellis, Ian, Herkert, Johanna C., Ironfield, Holly, Jory, Logan, Kretz, Perrine F., Kant, Sarina G., Neaverson, Alexandra, Nibbeling, Esther, Rowley, Christine, Relton, Emily, Sanderson, Mark, Scott, Ethan M., Stewart, Helen, Shuen, Andrew Y., Schreiber, John, Tuck, Liz, Tonks, James, Terkelsen, Thorkild, van Ravenswaaij-Arts, Conny, Vasudevan, Pradeep, Wenger, Olivia, Wright, Michael, Day, Andrew, Hunter, Adam, Patel, Minal, Lelliott, Christopher J., Crino, Peter B., Yalcin, Binnaz, Crosby, Andrew H., Baple, Emma L., Logan, Darren W., Hurles, Matthew E., Gerety, Sebastian S.

المصدر: Levitin , M O , Rawlins , L E , Sanchez-Andrade , G , Arshad , O A , Collins , S C , Sawiak , S J , Iffland , P H , Andersson , M H L , Bupp , C , Cambridge , E L , Coomber , E L , Ellis , I , Herkert , J C , Ironfield , H , Jory , L , Kretz , P F , Kant , S G , Neaverson , A , Nibbeling , E , Rowley , C , Relton , E , Sanderson , ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/f5a368fb-89ee-45a5-885b-184eae7e2e73Test

الإتاحة: https://doi.org/10.1093/brain/awad231Test
https://pure.eur.nl/en/publications/f5a368fb-89ee-45a5-885b-184eae7e2e73Test
https://pure.eur.nl/ws/files/119323951/awad231.pdfTest
http://www.scopus.com/inward/record.url?scp=85176495009&partnerID=8YFLogxKTest

المؤلفون: Lin, Siying, Sanchez-Bretano, Aida, Leslie, Joseph S, Williams, Katie B, Lee, Helena, Thomas, Nicholas, Callaway, Jonathan L, Deline, James, Ratnayaka, J. Arjuna, Baralle, Diana, Schmitt, Melanie A, Norman, Chelsea S, Hammond, Sheri, Harlalka, V. Gaurav, Ennis, Sarah, Cross, Harold E., Wenger, Olivia, Crosby, Andrew H., Baple, Emma L., Self, James

وصف الملف: application/octet-stream; text

العلاقة: https://eprints.soton.ac.uk/454189/1/Lin_et_al_OCA_paper_Fig_1_3_Nov_2021.EMFTest; https://eprints.soton.ac.uk/454189/2/Lin_et_al_OCA_paper_Supplemental_material_3_Nov_2021.pdfTest; https://eprints.soton.ac.uk/454189/3/Lin_et_al_OCA_paper_Table_1_3_Nov_2021.docxTest; https://eprints.soton.ac.uk/454189/4/s41525_021_00275_9.pdfTest; Lin, Siying, Sanchez-Bretano, Aida, Leslie, Joseph S, Williams, Katie B, Lee, Helena, Thomas, Nicholas, Callaway, Jonathan L, Deline, James, Ratnayaka, J. Arjuna, Baralle, Diana, Schmitt, Melanie A, Norman, Chelsea S, Hammond, Sheri, Harlalka, V. Gaurav, Ennis, Sarah, Cross, Harold E., Wenger, Olivia, Crosby, Andrew H., Baple, Emma L. and Self, James (2022) Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B). npj Genomic Medicine, 7 (1), 2, [2]. (doi:10.1038/s41525-021-00275-9 ).

الإتاحة: https://doi.org/10.1038/s41525-021-00275-9Test
https://eprints.soton.ac.uk/454189Test/
https://eprints.soton.ac.uk/454189/1/Lin_et_al_OCA_paper_Fig_1_3_Nov_2021.EMFTest
https://eprints.soton.ac.uk/454189/2/Lin_et_al_OCA_paper_Supplemental_material_3_Nov_2021.pdfTest
https://eprints.soton.ac.uk/454189/3/Lin_et_al_OCA_paper_Table_1_3_Nov_2021.docxTest
https://eprints.soton.ac.uk/454189/4/s41525_021_00275_9.pdfTest

المؤلفون: Leslie, Joseph S., Hjeij, Rim, Vivante, Asaf, Bearce, Elizabeth A., Dyer, Laura, Wang, Jiaolong, Rawlins, Lettie, Kennedy, Joanna, Ubeyratna, Nishanka, Fasham, James, Irons, Zoe H., Craig, Samuel B., Koenig, Julia, George, Sebastian, Pode-Shakked, Ben, Bolkier, Yoav, Barel, Ortal, Mane, Shrikant, Frederiksen, Kathrine K., Wenger, Olivia, Scott, Ethan, Cross, Harold E., Lorentzen, Esben, Norris, Dominic P., Anikster, Yair, Omran, Heymut, Grimes, Daniel T., Crosby, Andrew H., Baple, Emma L.

المصدر: Leslie , J S , Hjeij , R , Vivante , A , Bearce , E A , Dyer , L , Wang , J , Rawlins , L , Kennedy , J , Ubeyratna , N , Fasham , J , Irons , Z H , Craig , S B , Koenig , J , George , S , Pode-Shakked , B , Bolkier , Y , Barel , O , Mane , S , Frederiksen , K K , Wenger , O , Scott , E , Cross , H E , Lorentzen , E , Norris ....

مصطلحات موضوعية: DAW1, Heterotaxy, Left-right asymmetry, Motile cilia, Primary ciliary dyskinesia

وصف الملف: application/pdf

العلاقة: https://pure.au.dk/portal/en/publications/7b4a9a5f-60ea-4e3a-8fe5-6f943101cb02Test

الإتاحة: https://doi.org/10.1016/j.gim.2022.07.019Test
https://pure.au.dk/portal/en/publications/7b4a9a5f-60ea-4e3a-8fe5-6f943101cb02Test
https://pure.au.dk/ws/files/333616979/1_s2.0_S109836002200870X_main.pdfTest

المؤلفون: Ehrenberg, Sarah, Walsh Vockley, Catherine, Heiman, Paige, Ammous, Zineb, Wenger, Olivia, Vockley, Jerry, Ghaloul-Gonzalez, Lina

المساهمون: National Human Genome Research Institute, National Institutes of Health

المصدر: Molecular Genetics and Metabolism Reports ; volume 33, page 100936 ; ISSN 2214-4269

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.ymgmr.2022.100936Test
https://api.elsevier.com/content/article/PII:S2214426922000969?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426922000969?httpAccept=text/plainTest

المؤلفون: Fasham, James, Lin, Siying, Ghosh, Promita, Radio, Francesca Clementina, Farrow, Emily G., Thiffault, Isabelle, Kussman, Jennifer, Zhou, Dihong, Hemming, Rick, Zahka, Kenneth, Chioza, Barry A., Rawlins, Lettie E., Wenger, Olivia K., Gunning, Adam C., Pizzi, Simone, Onesimo, Roberta, Zampino, Giuseppe, Barker, Emily, Osawa, Natasha, Rodriguez, Megan Christine, Neuhann, Teresa M., Zackai, Elaine H., Keena, Beth, Capasso, Jenina, Levin, Alex V., Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Wentzensen, Ingrid M., Jackson, Adam, Chandler, Kate E., Coban-Akdemir, Zeynep H., Posey, Jennifer E., Banka, Siddharth, Lupski, James R., Sheppard, Sarah E., Tartaglia, Marco, Triggs-Raine, Barbara, Crosby, Andrew H., Baple, Emma L.

المصدر: Genetics in Medicine ; volume 24, issue 3, page 631-644 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2021.10.014Test
https://api.elsevier.com/content/article/PII:S1098360021053661?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021053661?httpAccept=text/plainTest

المؤلفون: Salter, Claire G., Cai, Yiying, Lo, Bernice, Helman, Guy, Taylor, Henry, McCartney, Amber, Leslie, Joseph S., Accogli, Andrea, Zara, Federico, Traverso, Monica, Fasham, James, Lees, Joshua A., Ferla, Matteo P., Chioza, Barry A., Wenger, Olivia, Scott, Ethan, Cross, Harold E., Crawford, Joanna, Warshawsky, Ilka, Keisling, Matthew, Agamanolis, Dimitris, Ward Melver, Catherine, Cox, Helen, Elawad, Mamoun, Marton, Tamas, Wakeling, Matthew N., Holzinger, Dirk, Tippelt, Stephan, Munteanu, Martin, Valcheva, Deyana, Deal, Christin, van Meerbeke, Sara, Walsh Vockley, Catherine, Butte, Manish J., Acar, Utkucan, van der Knaap, Marjo S., Korenke, G. Christoph, Kotzaeridou, Urania, Balla, Tamas, Simons, Cas, Uhlig, Holm H., Crosby, Andrew H., de Camilli, Pietro, Wolf, Nicole I., Baple, Emma L.

المصدر: Salter , C G , Cai , Y , Lo , B , Helman , G , Taylor , H , McCartney , A , Leslie , J S , Accogli , A , Zara , F , Traverso , M , Fasham , J , Lees , J A , Ferla , M P , Chioza , B A , Wenger , O , Scott , E , Cross , H E , Crawford , J , Warshawsky , I , Keisling , M , Agamanolis , D , Ward Melver , C , Cox , H , ....

العلاقة: https://research.vumc.nl/en/publications/e126a072-33f6-48db-9efb-ecd71589d3d8Test

الإتاحة: https://doi.org/10.1093/brain/awab313Test
https://research.vumc.nl/en/publications/e126a072-33f6-48db-9efb-ecd71589d3d8Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85125016289&origin=inwardTest
https://www.ncbi.nlm.nih.gov/pubmed/34415310Test

المؤلفون: Fasham, James, Lin, Siying, Ghosh, Promita, Radio, Francesca Clementina, Farrow, Emily G, Thiffault, Isabelle, Kussman, Jennifer, Zhou, Dihong, Hemming, Rick, Zahka, Kenneth, Chioza, Barry A, Rawlins, Lettie E, Wenger, Olivia K, Gunning, Adam C, Pizzi, Simone, Onesimo, Roberta, Zampino, Giuseppe, Barker, Emily, Osawa, Natasha, Rodriguez, Megan Christine, Neuhann, Teresa M, Zackai, Elaine H, Keena, Beth, Capasso, Jenina, Levin, Alex V, Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Wentzensen, Ingrid M, Jackson, Adam, Chandler, Kate E, Coban-Akdemir, Zeynep H, Posey, Jennifer E, Banka, Siddharth, Lupski, James R, Sheppard, Sarah E, Tartaglia, Marco, Triggs-Raine, Barbara, Crosby, Andrew H, Baple, Emma L

المصدر: Fasham , J , Lin , S , Ghosh , P , Radio , F C , Farrow , E G , Thiffault , I , Kussman , J , Zhou , D , Hemming , R , Zahka , K , Chioza , B A , Rawlins , L E , Wenger , O K , Gunning , A C , Pizzi , S , Onesimo , R , Zampino , G , Barker , E , Osawa , N , Rodriguez , M C , Neuhann , T M , Zackai , E H , Keena , ....

مصطلحات موضوعية: Congenital heart disease, Facial dysmorphism, Hyaluronidase, Myopia, Orofacial clefting

العلاقة: https://research.manchester.ac.uk/en/publications/fafa0b0c-61dd-4a34-8e1c-42ef53849e3fTest

الإتاحة: https://doi.org/10.1016/j.gim.2021.10.014Test
https://research.manchester.ac.uk/en/publications/fafa0b0c-61dd-4a34-8e1c-42ef53849e3fTest

المؤلفون: Ammous, Zineb, Rawlins, Lettie E., Jones, Hannah, Leslie, Joseph S., Wenger, Olivia, Scott, Ethan, Deline, Jim, Herr, Tom, Evans, Rebecca, Scheid, Angela, Kennedy, Joanna, Chioza, Barry A., Ames, Ryan M., Cross, Harold E., Puffenberger, Erik G., Harries, Lorna, Baple, Emma L., Crosby, Andrew H.

المساهمون: Cooper, Gregory M., Medical Research Council, Newlife – The Charity for Disabled Children, Biotechnology and Biological Sciences Research Council

المصدر: PLOS Genetics ; volume 17, issue 9, page e1009803 ; ISSN 1553-7404

الإتاحة: https://doi.org/10.1371/journal.pgen.1009803Test