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

URL الوصول: https://escholarship.org/uc/item/9pk8m065

المؤلفون: Bardakjian, Tanya, Krall, Max, Wu, Di, Lao, Richard, Tang, Paul Ling-Fung, Wan, Eunice, Kopinsky, Sarina, Schneider, Adele, Kwok, Pui-Yan, Slavotinek, Anne

مصطلحات موضوعية: Anophthalmia, GDF3, Growth/Differentiation Factor 3, Microphthalmia, p.Arg266Cys in GDF3

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9j97k3nb

المؤلفون: Lamont, Ryan E, Tan, Wen-Hann, Innes, A Micheil, Parboosingh, Jillian S, Schneidman-Duhovny, Dina, Rajkovic, Aleksandar, Pappas, John, Altschwager, Pablo, DeWard, Stephanie, Fulton, Anne, Gray, Kathryn J, Krall, Max, Mehta, Lakshmi, Rodan, Lance H, Saller, Devereux N, Steele, Deanna, Stein, Deborah, Yatsenko, Svetlana A, Bernier, François P, Slavotinek, Anne M

المصدر: European Journal of Human Genetics. 24(10)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Kidney Disease, Clinical Research, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Renal and urogenital, Adaptor Proteins, Signal Transducing, Carrier Proteins, Cytoskeletal Proteins, Female, Genotype, Humans, Hydrocephalus, Infant, Intracellular Signaling Peptides and Proteins, Male, Membrane Proteins, Mutation, Nephrosis, Pedigree, Phenotype, Proteins, Syndrome, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2qk9t640

المؤلفون: Krall, Max, Htun, Stephanie, Schnur, Rhonda E., Brooks, Alice S., Baker, Laura, de Alba Campomanes, Alejandra, Lamont, Ryan E., Gripp, Karen W., Care 4 Rare Canada Consortium, Schneidman-Duhovny, Dina^{Aff7, Aff8}, Innes, A. Micheil, Mancini, Grazia M. S., Slavotinek, Anne M.^Aff1

المصدر: European Journal of Human Genetics. 27(4):582-593

المؤلفون: Kievit, Anneke^Aff1, Tessadori, Federico^{Aff2, Aff3}, Douben, Hannie, Jordens, Ingrid, Maurice, Madelon, Hoogeboom, Jeannette, Hennekam, Raoul, Nampoothiri, Sheela, Kayserili, Hülya, Castori, Marco, Whiteford, Margo, Motter, Connie, Melver, Catherine, Cunningham, Michael, Hing, Anne, Kokitsu-Nakata, Nancy M., Vendramini-Pittoli, Siulan, Richieri-Costa, Antonio, Baas, Annette F., Breugem, Corstiaan C., Duran, Karen, Massink, Maarten, Derksen, Patrick W. B., van IJcken, Wilfred F. J., van Unen, Leontine, Santos-Simarro, Fernando, Lapunzina, Pablo, Gil-da Silva Lopes, Vera L., Lustosa-Mendes, Elaine, Krall, Max, Slavotinek, Anne, Martinez-Glez, Victor, Bakkers, Jeroen^{Aff3, Aff18}, van Gassen, Koen L. I., de Klein, Annelies, van den Boogaard, Marie-José H., van Haaften, Gijs^Aff2

المصدر: European Journal of Human Genetics. 26(2):210-219

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المؤلفون: Krall, Max, Htun, Stephanie, Slavotinek, Anne

المصدر: PLoS ONE; 4/24/2019, Vol. 14 Issue 4, p1-15, 15p

مصطلحات موضوعية: ZEBRA danio embryos, BONE morphogenetic proteins, ALLELES, ZEBRA danio

المؤلفون: Krall, Max, Htun, Stephanie, Schnur, Rhonda E., Brooks, Alice S., Baker, Laura, de Alba Campomanes, Alejandra, Lamont, Ryan E., Gripp, Karen W., Schneidman-Duhovny, Dina, Innes, A. Micheil, Mancini, Grazia M. S., Slavotinek, Anne M.

المصدر: European Journal of Human Genetics: EJHG; April 2019, Vol. 27 Issue: 4 p582-593, 12p

المؤلفون: Bardakjian T; Division of Medical Genetics, Einstein Medical Center, Philadelphia, PA, USA., Krall M; Dept. of Pediatrics, Division of Genetics, University of California San Francisco, San Francisco, CA, USA., Wu D; Dept. of Pediatrics, Division of Genetics, University of California San Francisco, San Francisco, CA, USA., Lao R; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA., Tang PL; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA., Wan E; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA., Kopinsky S; Division of Medical Genetics, Einstein Medical Center, Philadelphia, PA, USA., Schneider A; Division of Medical Genetics, Einstein Medical Center, Philadelphia, PA, USA., Kwok PY; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA., Slavotinek A; Dept. of Pediatrics, Division of Genetics, University of California San Francisco, San Francisco, CA, USA.

المصدر: American journal of ophthalmology case reports [Am J Ophthalmol Case Rep] 2017 Jun 21; Vol. 7, pp. 102-106. Date of Electronic Publication: 2017 Jun 21 (Print Publication: 2017).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 101679941 Publication Model: eCollection Cited Medium: Print ISSN: 2451-9936 (Print) Linking ISSN: 24519936 NLM ISO Abbreviation: Am J Ophthalmol Case Rep Subsets: PubMed not MEDLINE