المؤلفون: Nicholas Owen, Maria Toms, Rodrigo M. Young, Jonathan Eintracht, Hajrah Sarkar, Brian P. Brooks, Mariya Moosajee, J.C. Ambrose, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, Burca A. de, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, J.M. Hackett, D. Halai, J.E. Holman, T.J.P. Hubbard, R. Jackson, D. Kasperaviciute, M. Kayikci, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki

المصدر: Genetics in Medicine. 24:1073-1084

مصطلحات موضوعية: Ankyrins, Coloboma, Mice, Phenotype, Animals, Humans, Microphthalmos, Genetic Testing, Bone Morphogenetic Protein Receptors, Type I, Zebrafish, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2abcc2c448dd2359acc7f64e01c39af8Test
https://doi.org/10.1016/j.gim.2021.12.014Test

المؤلفون: Charles DeYoung, Bin Guan, Ehsan Ullah, Delphine Blain, Robert B. Hufnagel, Brian P. Brooks

المصدر: Ophthalmic Genetics. 43:513-517

مصطلحات موضوعية: Ophthalmology, Pediatrics, Perinatology and Child Health, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8910e6c8e9b776f8f0da5bf4cc1f63c5Test
https://doi.org/10.1080/13816810.2022.2028299Test

المؤلفون: RaeLynn Forsyth, Melissa A. Parisi, Burak Altintas, May Christine Malicdan, Thierry Vilboux, Jasmine Knoll, Brian P. Brooks, Wadih M. Zein, William A. Gahl, Camilo Toro, Meral Gunay‐Aygun

المصدر: Am J Med Genet C Semin Med Genet

مصطلحات موضوعية: Adult, Male, Kidney Diseases, Cystic, Magnetic Resonance Imaging, Article, Retina, Cerebellum, Genetics, Humans, Muscle Hypotonia, Abnormalities, Multiple, Female, Eye Abnormalities, Child, Physical Examination, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f51deaad35ee307542c96f454a29d3d4Test
https://doi.org/10.1002/ajmg.c.31966Test

المؤلفون: Najim Lahrouchi, Aman George, Ilham Ratbi, Ronen Schneider, Siham C. Elalaoui, Shahida Moosa, Sanita Bharti, Ruchi Sharma, Mones Abu-Asab, Felix Onojafe, Najlae Adadi, Elisabeth M. Lodder, Fatima-Zahra Laarabi, Yassine Lamsyah, Hamza Elorch, Imane Chebbar, Alex V. Postma, Vassilios Lougaris, Alessandro Plebani, Janine Altmueller, Henriette Kyrieleis, Vardiella Meiner, Helen McNeill, Kapil Bharti, Stanislas Lyonnet, Bernd Wollnik, Alexandra Henrion-Caude, Amina Berraho, Friedhelm Hildebrandt, Connie R. Bezzina, Brian P. Brooks, Abdelaziz Sefiani

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)

مصطلحات موضوعية: Science

العلاقة: https://doi.org/10.1038/s41467-019-08547-wTest; https://doaj.org/toc/2041-1723Test; https://doaj.org/article/545b350bd5bd4581abda47c5716aaca3Test

الإتاحة: https://doi.org/10.1038/s41467-019-08547-wTest
https://doaj.org/article/545b350bd5bd4581abda47c5716aaca3Test

المؤلفون: Aman George, Jerry Lee, James Liu, Suzie Kim, Brian P. Brooks

المصدر: Developmental dynamics : an official publication of the American Association of Anatomists.

مصطلحات موضوعية: Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86e8d471c011917d49606bb1a96edcb2Test
https://pubmed.ncbi.nlm.nih.gov/36576487Test

المؤلفون: Reinier Bakker, Ellie L. Wagstaff, Charlotte C. Kruijt, Eszter Emri, Clara D.M. van Karnebeek, Michael B. Hoffmann, Brian P. Brooks, Camiel J.F. Boon, Lluis Montoliu, Maria M. van Genderen, Arthur A. Bergen

المساهمون: Netherlands Institute for Neuroscience (NIN)

المصدر: Bakker, R, Wagstaff, P E, Kruijt, C C, Emri, E, van Karnebeek, C D M, Hoffmann, M B, Brooks, B P, Boon, C J F, Montoliu, L, van Genderen, M M & Bergen, A A 2022, ' The retinal pigmentation pathway in human albinism : Not so black and white ', Progress in Retinal and Eye Research, vol. 91, 101091 . https://doi.org/10.1016/j.preteyeres.2022.101091Test
Progress in Retinal and Eye Research, 91. Elsevier B.V.
Progress in Retinal and Eye Research, 91. PERGAMON-ELSEVIER SCIENCE LTD

مصطلحات موضوعية: Melanins, Retinal pigment epithelium (RPE), genetic structures, Albinism, Pigmentation, Sensory Systems, eye diseases, Retina, Ophthalmology, Mutation, Humans, sense organs, GPM6A, GPR143

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6103abddceb4552f2167e7c12c175f7dTest
https://doi.org/10.1016/j.preteyeres.2022.101091Test

المؤلفون: Aman George, Ruchi Sharma, Tyler Pfister, Mones Abu-Asab, Nathan Hotaling, Devika Bose, Charles DeYoung, Justin Chang, David R. Adams, Tiziana Cogliati, Kapil Bharti, Brian P. Brooks

المصدر: Stem Cell Reports

مصطلحات موضوعية: Resource, iPSC, genetic structures, Induced Pluripotent Stem Cells, melanosomes, Cell Differentiation, Cell Biology, albinism, Retinal Pigment Epithelium, Biochemistry, eye diseases, Disease Models, Animal, OCA1A, Phenotype, Albinism, Oculocutaneous, Genetics, OCA2, Animals, Humans, Melanocytes, sense organs, RPE, Biomarkers, Cells, Cultured, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cb385ef6b0bf1d18fe1b2106ab39428Test
http://europepmc.org/articles/PMC8758966Test

المؤلفون: Joanne, Li, Nancy, Aguilera, Tao, Liu, Andrew J, Bower, John P, Giannini, Catherine, Cukras, Tiarnan D L, Keenan, Emily, Chew, Brian P, Brooks, Wadih M, Zein, Laryssa A, Huryn, Robert B, Hufnagel, Johnny, Tam

المصدر: Eye (London, England).

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::4237be602006b8d2abcbdbbefcdc1dcbTest
https://pubmed.ncbi.nlm.nih.gov/36115884Test

المؤلفون: Tao Liu, Nancy Aguilera, Andrew J. Bower, Joanne Li, Ehsan Ullah, Alfredo Dubra, Catherine Cukras, Brian P. Brooks, Brett G. Jeffrey, Robert B. Hufnagel, Laryssa A. Huryn, Wadih M. Zein, Johnny Tam

المصدر: Investigative ophthalmologyvisual science. 63(8)

مصطلحات موضوعية: Extracellular Matrix Proteins, Optics and Photonics, Retinal Cone Photoreceptor Cells, Humans, Proteoglycans, General Medicine, Retinal Pigment Epithelium, Bestrophins, Eye Proteins, Tomography, Optical Coherence, Vitelliform Macular Dystrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::600b1fcd27ae60faca31c3983796aaf6Test
https://pubmed.ncbi.nlm.nih.gov/35900727Test

المؤلفون: Laryssa A, Huryn, Christina, Kozycki, Jasmine Y, Serpen, Wadih M, Zein, Ehsan, Ullah, Alessandro, Iannaccone, Lloyd, Williams, Lucia, Sobrin, Brian P, Brooks, H Nida, Sen, Robert B, Hufnagel, Daniel L, Kastner, Shilpa, Kodati

المصدر: Ophthalmology.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::029f7bdea928bb45bdb385c0c3c1b7d8Test
https://pubmed.ncbi.nlm.nih.gov/36332842Test