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1دورية أكاديمية
المصدر: Prenatal Diagnosis. 43(11)
مصطلحات موضوعية: Pregnancy, Female, Humans, Ultrasonography, Prenatal, Exome Sequencing, Pregnancy Trimester, First, Fetus, Abortion, Spontaneous, Prenatal Diagnosis
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6g43f45b
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2دورية أكاديمية
المؤلفون: Slavotinek, Anne, Rego, Shannon, Sahin-Hodoglugil, Nuriye, Kvale, Mark, Lianoglou, Billie, Yip, Tiffany, Hoban, Hannah, Outram, Simon, Anguiano, Beatrice, Chen, Flavia, Michelson, Jeremy, Cilio, Roberta M, Curry, Cynthia, Gallagher, Renata C, Gardner, Marisa, Kuperman, Rachel, Mendelsohn, Bryce, Sherr, Elliott, Shieh, Joseph, Strober, Jonathan, Tam, Allison, Tenney, Jessica, Weiss, William, Whittle, Amy, Chin, Garrett, Faubel, Amanda, Prasad, Hannah, Mavura, Yusuph, Van Ziffle, Jessica, Devine, W Patrick, Hodoglugil, Ugur, Martin, Pierre-Marie, Sparks, Teresa N, Koenig, Barbara, Ackerman, Sara, Risch, Neil, Kwok, Pui-Yan, Norton, Mary E
المصدر: npj Genomic Medicine. 8(1)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Perinatal Period - Conditions Originating in Perinatal Period, Human Genome, Pediatric, Medical biotechnology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/2gp2s68b
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3دورية أكاديمية
المؤلفون: Schwab, Marisa E, Lianoglou, Billie R, Gano, Dawn, Gonzalez Velez, Juan, Allen, Isabel E, Arvon, Regina, Baschat, Ahmet, Bianchi, Diana W, Bitanga, Melissa, Bourguignon, Anne, Brown, Richard N, Chen, Bruce, Chien, May, Davis-Nelson, Shareece, de Laat, Monique WM, Ekwattanakit, Supachai, Gollin, Yvonne, Hirata, Greigh, Jelin, Angie, Jolley, Jennifer, Meyer, Paul, Miller, Jena, Norton, Mary E, Ogasawara, Keith K, Panchalee, Tachjaree, Schindewolf, Erica, Shaw, Steven W, Stumbaugh, Tammy, Thompson, Alexis A, Towner, Dena, Tsai, Pai-Jong Stacy, Viprakasit, Vip, Volanakis, Emmanuel, Zhang, Li, Vichinsky, Elliott, MacKenzie, Tippi C
المصدر: Blood advances. 7(2)
مصطلحات موضوعية: Humans, alpha-Thalassemia, Edema, Blood Transfusion, Blood Transfusion, Intrauterine, Gestational Age, Pregnancy, Infant, Newborn, Female, Pediatric Research Initiative, Perinatal Period - Conditions Originating in Perinatal Period, Pediatric, Rare Diseases, Clinical Research, Brain Disorders, Reproductive health and childbirth
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6231v8vj
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4دورية أكاديمية
المؤلفون: Cohen, Jennifer, Chakraborty, Pranesh, Fung-Kee-Fung, Karen, Schwab, Marisa, Bali, Deeksha, Young, Sarah, Gelb, Michael, Khaledi, Hamid, DiBattista, Alicia, Smallshaw, Stacey, Moretti, Felipe, Wong, Derek, Lacroix, Catherine, El Demellawy, Dina, Strickland, Kyle, Lougheed, Jane, Moon-Grady, Anita, Lianoglou, Billie, Kishnani, Priya, MacKenzie, Tippi, Harmatz, Paul
المصدر: The New England Journal of Medicine. 387(23)
مصطلحات موضوعية: Humans, Infant, Glycogen Storage Disease Type II
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5np802zj
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5دورية أكاديمية
المؤلفون: Schwab, Marisa E, Brown, Julia EH, Lianoglou, Billie, Jin, Chengshi, Conroy, Patricia C, Gallagher, Renata C, Harmatz, Paul, MacKenzie, Tippi C
المصدر: Orphanet Journal of Rare Diseases. 17(1)
مصطلحات موضوعية: Genetics, Orphan Drug, Digestive Diseases, Clinical Research, Clinical Trials and Supportive Activities, Rare Diseases, Pediatric, Good Health and Well Being, Attitude, Clinical Trials, Phase I as Topic, Enzyme Replacement Therapy, Female, Fetal Therapies, Glycogen Storage Disease Type II, Humans, Lysosomal Storage Diseases, Parents, Pregnancy, Surveys and Questionnaires, Lysosomal storage disease, Mucopolysaccharidosis, Fetal therapy, Enzyme replacement therapy, Gene therapy, Patient attitudes, Clinical trial, ELSI (ethical, legal and social implications), ELSI, Other Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/79c7w0mv
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6دورية أكاديمية
المؤلفون: Schwab, Marisa E, Shao, Shirley, Zhang, Li, Lianoglou, Billie, Belter, Lisa, Jarecki, Jill, Schroth, Mary, Sumner, Charlotte J, MacKenzie, Tippi
المصدر: Prenatal Diagnosis. 42(11)
مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Clinical Research, Pediatric Research Initiative, Clinical Trials and Supportive Activities, Pediatric, Rare Diseases, Genetics, Perinatal Period - Conditions Originating in Perinatal Period, Female, Humans, Pregnancy, Attitude, Fetal Therapies, Muscular Atrophy, Spinal, Oligonucleotides, Antisense, Prenatal Diagnosis, Adult, Clinical Sciences, Paediatrics and Reproductive Medicine, Obstetrics & Reproductive Medicine, Clinical sciences, Reproductive medicine
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/8v90p33n
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7دورية أكاديمية
المؤلفون: Herzeg, Akos, Almeida-Porada, Graça, Charo, R, David, Anna, Gonzalez-Velez, Juan, Gupta, Nalin, Lapteva, Larissa, Lianoglou, Billie, Peranteau, William, Porada, Christopher, Sparks, Teresa, Stitelman, David, Struble, Evi, Sumner, Charlotte, MacKenzie, Tippi, Sanders, Stephan
المصدر: Journal of Clinical Pharmacology, vol 62 Suppl 1, iss Suppl 1
مصطلحات موضوعية: drug development, fetal medicine, immunopharmacology, neurology, pediatrics, perinatology, pharmacogenetics/pharmacogenomics, rare diseases, regulatory/scientific affairs, womens health, Female, Fetus, Genetic Therapy, Humans, Parturition, Pregnancy, United States, United States Food and Drug Administration
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/3vk7m1hv
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8دورية أكاديمية
المؤلفون: Slavotinek, AnneAff1, Aff2, IDs41525023003829_cor1, Rego, ShannonAff1, Aff2, Sahin-Hodoglugil, Nuriye, Kvale, MarkAff2, Aff3, Lianoglou, Billie, Yip, TiffanyAff1, Aff2, Hoban, Hannah, Outram, Simon, Anguiano, BeatriceAff2, Aff5, Chen, Flavia, Michelson, Jeremy, Cilio, Roberta M., Curry, Cynthia, Gallagher, Renata C.Aff1, Aff2, Gardner, Marisa, Kuperman, RachelAff9, Aff10, Mendelsohn, Bryce, Sherr, Elliott, Shieh, JosephAff1, Aff2, Strober, Jonathan, Tam, Allison, Tenney, Jessica, Weiss, William, Whittle, Amy, Chin, Garrett, Faubel, Amanda, Prasad, Hannah, Mavura, YusuphAff2, Aff3, Van Ziffle, Jessica, Devine, W. Patrick, Hodoglugil, Ugur, Martin, Pierre-Marie, Sparks, Teresa N.Aff2, Aff17, Koenig, BarbaraAff2, Aff18, Ackerman, SaraAff5, Aff19, Risch, NeilAff2, Aff3, Kwok, Pui-Yan, Norton, Mary E.Aff2, Aff17
المصدر: npj Genomic Medicine. 8(1)
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9دورية أكاديمية
المؤلفون: Rego, Shannon, Hoban, Hannah, Outram, Simon, Zamora, Astrid N, Chen, Flavia, Sahin-Hodoglugil, Nuriye, Anguiano, Beatriz, Norstad, Matthew, Yip, Tiffany, Lianoglou, Billie, Sparks, Teresa N, Norton, Mary E, Koenig, Barbara A, Slavotinek, Anne M, Ackerman, Sara L
المصدر: Genetics in Medicine. 24(6)
مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Human Genome, Clinical Research, Child, Exome, Family, Female, Genome, Human, Genomics, Humans, Pregnancy, Exome Sequencing, Exome sequencing, Genome sequencing, Secondary findings, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/174592k3
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10دورية أكاديمية
المؤلفون: Swanson, Kate, Sparks, Teresa N, Lianoglou, Billie R, Chen, Flavia, Downum, Sarah, Patel, Sachi, Rego, Shannon, Yip, Tiffany, Van Ziffle, Jessica, Koenig, Barbara A, Slavotinek, Anne M, Norton, Mary E
المصدر: Prenatal Diagnosis. 42(6)
مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Clinical Sciences, Perinatal Period - Conditions Originating in Perinatal Period, Clinical Research, Pediatric, Child, Cohort Studies, Exome, Family, Female, Humans, Parents, Pregnancy, Prenatal Diagnosis, Exome Sequencing, Paediatrics and Reproductive Medicine, Obstetrics & Reproductive Medicine, Clinical sciences, Reproductive medicine
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/89h179r4