المؤلفون: Craiglow, Brittany G, Boyden, Lynn M, Hu, Ronghua, Virtanen, Marie, Su, John, Rodriguez, Gabriela, McCarthy, Catherine, Luna, Paula, Larralde, Margarita, Humphrey, Stephen, Holland, Kristen E, Hogeling, Marcia, Hidalgo-Matlock, Benjamin, Ferrari, Bruno, Fernandez-Faith, Esteban, Drolet, Beth, Cordoro, Kelly M, Bowcock, Anne M, Antaya, Richard J, Ashack, Kurt, Ashack, Richard J, Lifton, Richard P, Milstone, Leonard M, Paller, Amy S, Choate, Keith A

المصدر: Journal of the American Academy of Dermatology. 79(3)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Psoriasis, Rare Diseases, Genetics, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Age of Onset, CARD Signaling Adaptor Proteins, Child, Child, Preschool, Dermatologic Agents, Facial Dermatoses, Genetic Testing, Guanylate Cyclase, Humans, Infant, Infant, Newborn, Membrane Proteins, Phenotype, Pityriasis Rubra Pilaris, Retreatment, Skin Diseases, Papulosquamous, Ustekinumab, CARD14, genetics, pityriasis rubra pilaris, psoriasis, treatment, ustekinumab, Dermatology & Venereal Diseases, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6tw78888Test

المؤلفون: Boyden, Lynn M, Kam, Chen Y, Hernández-Martín, Angela, Zhou, Jing, Craiglow, Brittany G, Sidbury, Robert, Mathes, Erin F, Maguiness, Sheilagh M, Crumrine, Debra A, Williams, Mary L, Hu, Ronghua, Lifton, Richard P, Elias, Peter M, Green, Kathleen J, Choate, Keith A

المصدر: Human Molecular Genetics. 25(2)

مصطلحات موضوعية: Genetics, Pediatric, Biotechnology, Heart Disease, Congenital Structural Anomalies, Rare Diseases, Clinical Research, Cardiovascular, Aetiology, 2.1 Biological and endogenous factors, Skin, Amino Acid Sequence, Cardiomyopathies, Child, Child, Preschool, Connexin 43, Desmoplakins, Desmosomes, Female, Humans, Infant, Male, Molecular Sequence Data, Mutation, Missense, Myocardium, Protein Transport, Sequence Alignment, Skin Diseases, Genetic, Syndrome, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/21r8b6b3Test

المؤلفون: Boyden, Lynn M., Zhou, Jing, Hu, Ronghua, Zaki, Theodore, Loring, Erin, Scott, Jared, Traupe, Heiko, Paller, Amy S., Lifton, Richard P., Choate, Keith A.

المساهمون: Foundation for Ichthyosis and Related Skin Types, National Institutes of Health

المصدر: The American Journal of Human Genetics ; volume 107, issue 1, page 158-163 ; ISSN 0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.05.013Test
https://api.elsevier.com/content/article/PII:S0002929720301609?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929720301609?httpAccept=text/plainTest

المؤلفون: Duchatelet, Sabine, Boyden, Lynn M., Ishida-Yamamoto, Akemi, Zhou, Jing, Guibbal, Laure, Hu, Ronghua, Lim, Young H., Bole-Feysot, Christine, Nitschké, Patrick, Santos-Simarro, Fernando, de Lucas, Raul, Milstone, Leonard M., Gildenstern, Vanessa, Helfrich, Yolanda R., Attardi, Laura D., Lifton, Richard P., Choate, Keith A., Hovnanian, Alain

المساهمون: Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Yale School of Medicine New Haven, Connecticut (YSM), Asahikawa Medical College, University of Michigan System, Stanford School of Medicine Stanford, Stanford Medicine, Stanford University-Stanford University

المصدر: ISSN: 0022-202X.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: hal-03486019; https://hal.science/hal-03486019Test; https://hal.science/hal-03486019/documentTest; https://hal.science/hal-03486019/file/S0022202X18326617.pdfTest; PII: S0022-202X(18)32661-7

الإتاحة: https://doi.org/10.1016/j.jid.2018.08.026Test
https://hal.science/hal-03486019Test
https://hal.science/hal-03486019/documentTest
https://hal.science/hal-03486019/file/S0022202X18326617.pdfTest

المؤلفون: Boyden, Lynn M., Atzmony, Lihi, Hamilton, Claire, Zhou, Jing, Lim, Young H., Hu, Ronghua, Pappas, John, Rabin, Rachel, Ekstien, Joseph, Hirsch, Yoel, Prendiville, Julie, Lifton, Richard P., Ferguson, Shawn, Choate, Keith A.

المساهمون: Foundation for Ichthyosis and Related Skin Types, National Institutes of Health

المصدر: The American Journal of Human Genetics ; volume 105, issue 5, page 1023-1029 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.09.021Test
https://api.elsevier.com/content/article/PII:S0002929719303611?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929719303611?httpAccept=text/plainTest

المؤلفون: Boyden, Lynn M., Choate, Keith A.

المصدر: Journal of Investigative Dermatology ; volume 137, issue 5, page e61-e65 ; ISSN 0022-202X

مصطلحات موضوعية: Cell Biology, Dermatology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1016/j.jid.2016.11.019Test
https://api.elsevier.com/content/article/PII:S0022202X16327579?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022202X16327579?httpAccept=text/plainTest

المؤلفون: Boyden, Lynn M., Vincent, Nicholas G., Zhou, Jing, Hu, Ronghua, Craiglow, Brittany G., Bayliss, Susan J., Rosman, Ilana S., Lucky, Anne W., Diaz, Luis A., Goldsmith, Lowell A., Paller, Amy S., Lifton, Richard P., Baserga, Susan J., Choate, Keith A.

المساهمون: Doris Duke Charitable Foundation, Foundation for Ichthyosis and Related Skin Types, National Institutes of Health

المصدر: The American Journal of Human Genetics ; volume 100, issue 6, page 978-984 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.05.003Test
https://api.elsevier.com/content/article/PII:S0002929717301908?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929717301908?httpAccept=text/plainTest

المؤلفون: Marukian, Nareh V., Hu, Rong-Hua, Craiglow, Brittany G., Milstone, Leonard M., Zhou, Jing, Theos, Amy, Kaymakcalan, Hande, Akkaya, Deniz A., Uitto, Jouni J., Vahidnezhad, Hassan, Youssefian, Leila, Bayliss, Susan J., Paller, Amy S., Boyden, Lynn M., Choate, Keith A.

المصدر: JAMA Dermatology ; volume 153, issue 6, page 537 ; ISSN 2168-6068

الإتاحة: https://doi.org/10.1001/jamadermatol.2017.0202Test
https://archderm.jamanetwork.com/ama/content_public/journal/derm/936267/jamadermatology_marukian_2017_oi_170006.pdfTest

المؤلفون: Sun, Qisi, Burgren, Nareh M., Cheraghlou, Shayan, Paller, Amy S., Larralde, Margarita, Bercovitch, Lionel, Levinsohn, Jonathan, Ren, Ivy, Hu, Rong Hua, Zhou, Jing, Zaki, Theodore, Fan, Ryan, Tian, Charlie, Saraceni, Corey, Nelson-Williams, Carol J., Loring, Erin, Craiglow, Brittany G., Milstone, Leonard M., Lifton, Richard P., Boyden, Lynn M., Choate, Keith A.

المصدر: JAMA Dermatology ; volume 158, issue 1, page 16 ; ISSN 2168-6068

الإتاحة: https://doi.org/10.1001/jamadermatol.2021.4242Test
https://jamanetwork.com/journals/jamadermatology/articlepdf/2786909/jamadermatology_sun_2021_oi_210057_1641397670.39782.pdfTest

المؤلفون: Barbee, Susannah D., Woodward, Martin J., Turchinovich, Gleb, Mention, Jean-Jacques, Lewis, Julia M., Boyden, Lynn M., Lifton, Richard P., Tigelaar, Robert, Hayday, Adrian C., Allison, James P.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2011 Feb . 108(8), 3330-3335.

الوصول الحر: https://www.jstor.org/stable/41060927Test