المؤلفون: Xuan-Hong To-Mai, Huu-Trung Nguyen, Thanh-Truc Nguyen-Thi, Thuy-Vy Nguyen, My-Nuong Nguyen-Thi, Ke-Quan Thai, Minh-Thi Lai, Tuan-Anh Nguyen

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Autosomal recessive disorders, Carrier screening, Expanded carrier screening, Gene mutation, Vietnamese-specific carrier screening panel, X-linked disorders, Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2045-2322Test

الوصول الحر: https://doaj.org/article/70e998b90706483c8be545603c820de3Test

المؤلفون: Flavia Costanza, Giampaolo Papi, Stefania Corrado, Alfredo Pontecorvi

المصدر: Frontiers in Endocrinology, Vol 14 (2023)

مصطلحات موضوعية: papillary thyroid carcinoma, Goltz-Gorlin syndrome, focal dermal hypoplasia, X-linked disorders, rare genetic syndromes, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2023.1243540/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/eca19854de8d4a9cabf8894d1c39ed7bTest

المؤلفون: Giovenino, Chiara, Trajkova, Slavica, Pavinato, Lisa, Cardaropoli, Simona, Pullano, Verdiana, Ferrero, Enza, Sukarova-Angelovska, Elena, Carestiato, Silvia, Salmin, Paola, Rinninella, Antonina, Battaglia, Anthony, Bertoli, Luca, Fadda, Antonio, Palermo, Flavia, Carli, Diana, Mussa, Alessandro, Dimartino, Paola, Bruselles, Alessandro, Froukh, Tawfiq, Mandrile, Giorgia, Pasini, Barbara, De Rubeis, Silvia, Buxbaum, Joseph D, Pippucci, Tommaso, Tartaglia, Marco, Rossato, Marzia, Delledonne, Massimo, Ferrero, Giovanni Battista, Brusco, Alfredo

المساهمون: Giovenino, Chiara, Trajkova, Slavica, Pavinato, Lisa, Cardaropoli, Simona, Pullano, Verdiana, Ferrero, Enza, Sukarova-Angelovska, Elena, Carestiato, Silvia, Salmin, Paola, Rinninella, Antonina, Battaglia, Anthony, Bertoli, Luca, Fadda, Antonio, Palermo, Flavia, Carli, Diana, Mussa, Alessandro, Dimartino, Paola, Bruselles, Alessandro, Froukh, Tawfiq, Mandrile, Giorgia, Pasini, Barbara, De Rubeis, Silvia, Buxbaum, Joseph D, Pippucci, Tommaso, Tartaglia, Marco, Rossato, Marzia, Delledonne, Massimo, Ferrero, Giovanni Battista, Brusco, Alfredo

مصطلحات موضوعية: neurodevelopmental disorde, X skewed inactivation, X linked disorders, exome, Xdrop long-DNA technology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36879111; info:eu-repo/semantics/altIdentifier/wos/WOS:000944081800001; firstpage:1; lastpage:9; numberofpages:9; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/2318/1903052Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149409681; https://www.nature.com/articles/s41431-023-01324-wTest

الإتاحة: https://doi.org/10.1038/s41431-023-01324-wTest
https://hdl.handle.net/2318/1903052Test
https://www.nature.com/articles/s41431-023-01324-wTest

المؤلفون: Chertcoff, Anibal, Cejas, Luciana León, Marchesoni, Cintia, Reisin, Ricardo

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2021 9

مصطلحات موضوعية: Fabry disease, depression, X-linked disorders, lysosomal storage diseases

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100403Test

المؤلفون: Beck, Michael

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2021 9

مصطلحات موضوعية: X-linked disorders, metabolic disorders, X-inactivation, pyruvate dehydrogenase, creatine transporter, cholesterol biosynthesis, hypophosphatemic rickets, lysosomal storage disorder

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100401Test

المؤلفون: Martin, Hilary C., Gardner, Eugene J., Samocha, Kaitlin E., Green, Andrew

مصطلحات موضوعية: X chromosome burden analysis, X-linked disorders, Developmental disorder rates

وصف الملف: Electronic

العلاقة: Nature Communications; http://hdl.handle.net/10197/13041Test; 12; 13; 10/H0305/83; GEN/284/12; HICF-1009-003; WT098051

الإتاحة: https://doi.org/10.1038/s41467-020-20852-3Test
http://hdl.handle.net/10197/13041Test

المؤلفون: Shen, Jiawei

مصطلحات موضوعية: Biology, Bioinformatics, Neurosciences, bioinformatic methods and workflows, de novo somatic mosaicism, neurodevelopmental disorders, NGS data analysis, variant identification and annotation, X-linked disorders

الوصول الحر: https://escholarship.org/uc/item/6sc0d7qdTest

المؤلفون: Anibal Chertcoff, Luciana León Cejas, Cintia Marchesoni, Ricardo Reisin

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

مصطلحات موضوعية: Fabry disease, depression, X-linked disorders, lysosomal storage diseases, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100403&tlng=enTest; https://doaj.org/toc/2326-4594Test

الوصول الحر: https://doaj.org/article/f593d4cd9a884a83b23b05fae5b517dcTest

المؤلفون: Michael Beck

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

مصطلحات موضوعية: X-linked disorders, metabolic disorders, X-inactivation, pyruvate dehydrogenase, creatine transporter, cholesterol biosynthesis, hypophosphatemic rickets, lysosomal storage disorder, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100401&tlng=enTest; https://doaj.org/toc/2326-4594Test

الوصول الحر: https://doaj.org/article/5935bab751664346847753b37fc5b8e6Test

المؤلفون: Chiara Giovenino, Slavica Trajkova, Lisa Pavinato, Simona Cardaropoli, Verdiana Pullano, Enza Ferrero, Elena Sukarova-Angelovska, Silvia Carestiato, Paola Salmin, Antonina Rinninella, Anthony Battaglia, Luca Bertoli, Antonio Fadda, Flavia Palermo, Diana Carli, Alessandro Mussa, Paola Dimartino, Alessandro Bruselles, Tawfiq Froukh, Giorgia Mandrile, Barbara Pasini, Silvia De Rubeis, Joseph D. Buxbaum, Tommaso Pippucci, Marco Tartaglia, Marzia Rossato, Massimo Delledonne, Giovanni Battista Ferrero, Alfredo Brusco

مصطلحات موضوعية: neurodevelopmental disorde, Xdrop long-DNA technology, neurodevelopmental disorde, X skewed inactivation, X linked disorders, exome, Xdrop long-DNA technology, Genetics, X skewed inactivation, X linked disorders, Genetics (clinical), exome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32ab9459ff9f78a1e3d9adca5f8adb99Test
https://hdl.handle.net/2318/1903052Test