المؤلفون: Islam, Farrah, Htun, Stephanie, Lai, Li‐Wen, Krall, Max, Poranki, Menitha, Martin, Pierre‐Marie, Sobreira, Nara, Wohler, Elizabeth S, Yu, Jingwei, Moore, Anthony T, Slavotinek, Anne M

المصدر: Clinical Genetics. 98(5)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Anophthalmos, Calcium-Binding Proteins, Cation Transport Proteins, Cell Adhesion Molecules, Coloboma, Consanguinity, Exome, Female, High-Throughput Nucleotide Sequencing, Humans, Kinesins, Male, Membrane Proteins, Microphthalmos, Mitochondrial Membrane Transport Proteins, Mutation, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Tumor Suppressor Proteins, Exome Sequencing, Anophthalmia, cataract, CDON, Microphthalmia, TENM3, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9pk8m065Test

المؤلفون: Gottschalk, Laura B., Vecchio-Pagan, Briana, Sharma, Neeraj, Han, Sangwoo T., Franca, Arianna, Wohler, Elizabeth S., Batista, Denise A.S., Goff, Loyal A., Cutting, Garry R.

المساهمون: Cystic Fibrosis Foundation, National Institutes of Health

المصدر: Journal of Cystic Fibrosis ; volume 15, issue 3, page 285-294 ; ISSN 1569-1993

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.jcf.2015.11.010Test
https://api.elsevier.com/content/article/PII:S1569199315002684?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1569199315002684?httpAccept=text/plainTest

المؤلفون: Shinde, Vishal, Sobreira, Nara, Wohler, Elizabeth S, Maiti, George, Hu, Nan, Silvestri, Giuliana, George, Sonia, Jackson, Jonathan, Chakravarti, Aravinda, Willoughby, Colin E, Chakravarti, Shukti

المساهمون: Northern Ireland Research and Development Office, Fight for Sight, Baylor-Hopkins Center for Mendelian Genomics, National Institute of Health/National Eye Institute, NIH

المصدر: Human Molecular Genetics ; volume 30, issue 8, page 658-671 ; ISSN 0964-6906 1460-2083

الإتاحة: https://doi.org/10.1093/hmg/ddab075Test
https://academic.oup.com/hmg/article-pdf/30/8/658/42597323/ddab075.pdfTest

المؤلفون: Motta, Fabiana Louise, Filippelli-Silva, Rafael, Kitajima, Joao Paulo, Batista, Denise A., Wohler, Elizabeth S., Sobreira, Nara L., Martin, Renan Paulo, Ferraz Sallum, Juliana Maria

المصدر: Ophthalmic Genetics ; volume 42, issue 5, page 553-560 ; ISSN 1381-6810 1744-5094

الإتاحة: https://doi.org/10.1080/13816810.2021.1938136Test

المؤلفون: Sisk, Robert A., Hufnagel, Robert B., Laham, Ailee, Wohler, Elizabeth S., Sobreira, Nara, Ahmed, Zubair M.

المصدر: Journal of Ophthalmology; 7/11/2018, p1-13, 13p

مصطلحات موضوعية: RETINAL disease diagnosis, RETINAL diseases, ANGIOGRAPHY, ELECTRORETINOGRAPHY, GENETIC polymorphisms, SCIENTIFIC observation, PHOTORECEPTORS, RETINA, VISION disorders, VISUAL acuity, VISUAL pigments, OPTICAL coherence tomography, RETROSPECTIVE studies, SEQUENCE analysis, GENETICS

المؤلفون: Miller, Nathaniel D., Nance, Melonie A., Wohler, Elizabeth S., Hoover‐Fong, Julie E., Lisi, Emily, Thomas, George H., Pevsner, Jonathan

المصدر: American Journal of Medical Genetics Part A ; volume 149A, issue 4, page 669-680 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.32705Test

المؤلفون: Li, Feng, Lisi, Emily C., Wohler, Elizabeth S., Hamosh, Ada, Batista, Denise A.S.

المصدر: European Journal of Medical Genetics ; volume 52, issue 5, page 349-352 ; ISSN 1769-7212

مصطلحات موضوعية: Genetics (clinical), Genetics, General Medicine

الإتاحة: https://doi.org/10.1016/j.ejmg.2009.05.001Test
https://api.elsevier.com/content/article/PII:S1769721209000597?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1769721209000597?httpAccept=text/plainTest

المؤلفون: Miller, Nathaniel D., Nance, Melonie A., Wohler, Elizabeth S., Hoover‐Fong, Julie E., Lisi, Emily, Thomas, George H., Pevsner, Jonathan

المصدر: American Journal of Medical Genetics. Part A; April 2009, Vol. 149 Issue: 4 p669-680, 12p

المؤلفون: Motta, Fabiana L., Martin, Renan P., Porto, Fernanda B. O., Wohler, Elizabeth S., Resende, Rosane G., Gomes, Caio P., Pesquero, João B., Sallum, Juliana M. F.

المصدر: Genes; Jan2020, Vol. 11 Issue 1, p24, 1p

مصطلحات موضوعية: RETINAL degeneration, BLINDNESS, MEDICAL genetics, MICROBIAL virulence, GENETIC counseling, RETROLENTAL fibroplasia, DYSTROPHY