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1دورية أكاديمية
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
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2دورية أكاديمية
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
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3دورية أكاديمية
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
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4دورية أكاديمية
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, DinaAff7, Aff8, Innes, A. Micheil, Mancini, Grazia M. S., Slavotinek, Anne M.Aff1
المصدر: European Journal of Human Genetics. 27(4):582-593
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5دورية أكاديمية
المؤلفون: Kievit, AnnekeAff1, Tessadori, FedericoAff2, 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, JeroenAff3, Aff18, van Gassen, Koen L. I., de Klein, Annelies, van den Boogaard, Marie-José H., van Haaften, GijsAff2
المصدر: European Journal of Human Genetics. 26(2):210-219
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6دورية أكاديمية
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7دورية أكاديمية
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8دورية أكاديمية
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
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9دورية
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
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10تقرير
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