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1دورية أكاديمية
المؤلفون: Mehta, Lakshmi, Begun, Yakira, Sanyoura, May, Stanley, Christine
المصدر: Genetics in Medicine Open ; volume 2, page 101138 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101138Test
https://api.elsevier.com/content/article/PII:S294977442400284X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S294977442400284X?httpAccept=text/plainTest -
2دورية أكاديمية
المؤلفون: Berger, Sara, Mito, Yoshiko, Mehta, Lakshmi
المصدر: Genetics in Medicine Open ; volume 2, page 101097 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101097Test
https://api.elsevier.com/content/article/PII:S2949774424002437?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424002437?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Berger, Sara, Mehta, Lakshmi, Scott, Stuart
المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100147 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2023.100147Test
https://api.elsevier.com/content/article/PII:S2949774423001474?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423001474?httpAccept=text/plainTest -
4دورية 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
الوصول الحر: https://escholarship.org/uc/item/2qk9t640Test
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5دورية أكاديمية
المؤلفون: Mullegama, Sureni V., Kiernan, Kaitlyn A., Torti, Erin, Pavlovsky, Ethan, Tilton, Nicholas, Sekula, Austin, Gao, Hua, Alaimo, Joseph T., Engleman, Kendra, Rush, Eric T., Blocker, Karli, Dipple, Katrina M., Fettig, Veronica M., Hare, Heather, Glass, Ian, Grange, Dorothy K., Griffin, Michael, Phornphutkul, Chanika, Massingham, Lauren, Mehta, Lakshmi, Miller, Danny E., Thies, Jenny, Merritt, J Lawrence, Muller, Eric, Osmond, Matthew, Sawyer, Sarah L., Slaugh, Rachel, Hickey, Rachel E., Wolf, Barry, Choudhary, Sanjeev, Simonović, Miljan, Zhang, Yueqing, Palculict, Timothy Blake, Telegrafi, Aida, Carere, Deanna Alexis, Wentzensen, Ingrid M., Morrow, Michelle M., Monaghan, Kristin G., Yang, Jun, Juusola, Jane
المساهمون: National Institutes of Health, National Institute of General Medical Sciences, University of Illinois Chicago
المصدر: The American Journal of Human Genetics ; volume 111, issue 4, page 778-790 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2024.02.016Test
https://api.elsevier.com/content/article/PII:S0002929724000739?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929724000739?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: Jiang, Nan, Sewell, Taylor B., Kowalski, Theresa L., Rekab, Aisha, Hills, Susannah, Fazlollahi, Ladan, Lauren, Christine T., Morel, Kimberly, Mehta, Lakshmi, Liao, Jun
المصدر: American Journal of Medical Genetics. Part A; Feb2024, Vol. 194 Issue 2, p389-393, 5p
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7دورية أكاديمية
المؤلفون: Kowalski, Theresa, Jiang, Nan, Lauren, Christine, Morel, Kimberly, Hills, Susannah, Sewell, Taylor, Liao, Jun, Mehta, Lakshmi
المصدر: Genetics in Medicine ; volume 24, issue 3, page S98-S99 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2022.01.197Test
https://api.elsevier.com/content/article/PII:S1098360022002143?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022002143?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Slavotinek, Anne, Kaylor, Julie, Pierce, Heather, Cahr, Michelle, DeWard, Stephanie J, Schneidman-Duhovny, Dina, Alsadah, Adnan, Salem, Fadi, Schmajuk, Gabriela, Mehta, Lakshmi
المصدر: American Journal of Human Genetics. 96(1)
مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Kidney Disease, Clinical Research, Genetics, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Renal and urogenital, Amniotic Fluid, Carrier Proteins, Child, Female, Fetus, Genetic Variation, Humans, Hydrocephalus, Male, Membrane Proteins, Nephrotic Syndrome, Phenotype, Pregnancy, Protein Structure, Secondary, alpha-Fetoproteins, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7943r1m9Test
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9دورية أكاديمية
المؤلفون: Johnston, Jennifer J, Sapp, Julie C, Turner, Joyce T, Amor, David, Aftimos, Salim, Aleck, Kyrieckos A, Bocian, Maureen, Bodurtha, Joann N, Cox, Gerald F, Curry, Cynthia J, Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M, Hedera, Peter, Hennekam, Raoul CM, Hersh, Joseph H, Hopkin, Robert J, Kayserili, Hülya, Kidd, Alexa MJ, Kimonis, Virginia, Lin, Angela E, Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H, Rope, Alan F, Rosenbaum, Kenneth N, Schaefer, G Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J, Steiner, Bernhard, Stephan, Mark J, Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun‐Hui, Van Allen, Margot I, Vasudevan, Pradeep C, Zabel, Bernhard, Zunich, Janice, Black, Graeme CM, Biesecker, Leslie G
المصدر: Human Mutation. 31(10)
مصطلحات موضوعية: Genetics, Dental/Oral and Craniofacial Disease, Pediatric, Clinical Research, Rare Diseases, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Craniofacial Abnormalities, Genotype, Humans, Kruppel-Like Transcription Factors, Mouth Abnormalities, Mutation, Nerve Tissue Proteins, Pallister-Hall Syndrome, Phenotype, Polydactyly, Syndactyly, Zinc Finger Protein Gli3, GLI3, Greig syndrome, Pallister-Hall syndrome, oral-facial-digital syndrome, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6z17j09nTest
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10دورية أكاديمية
المؤلفون: Jiang, Nan, Sewell, Taylor B., Kowalski, Theresa L., Rekab, Aisha, Hills, Susannah, Fazlollahi, Ladan, Lauren, Christine T., Morel, Kimberly, Mehta, Lakshmi, Liao, Jun
المصدر: American Journal of Medical Genetics Part A ; volume 194, issue 2, page 389-393 ; ISSN 1552-4825 1552-4833