المؤلفون: Lin, Fumin, Cao, Kajia, Chang, Fengqi, Oved, Joseph H., Luo, Minjie, Fan, Zhiqian, Schubert, Jeffrey, Wu, Jinhua, Zhong, Yiming, Gallo, Daniel J., Denenberg, Elizabeth H., Chen, Jiani, Fanning, Elizabeth A., Lambert, Michele P., Paessler, Michele E., Surrey, Lea F., Zelley, Kristin, MacFarland, Suzanne, Kurre, Peter, Olson, Timothy S., Li, Marilyn M.

المساهمون: Children's Hospital of Philadelphia

المصدر: The Journal of Molecular Diagnostics ; volume 26, issue 3, page 191-201 ; ISSN 1525-1578

مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1016/j.jmoldx.2023.11.010Test
https://api.elsevier.com/content/article/PII:S1525157823002957?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1525157823002957?httpAccept=text/plainTest

المؤلفون: Skraban, Cara M, Wells, Constance F, Markose, Preetha, Cho, Megan T, Nesbitt, Addie I, Au, PY Billie, Begtrup, Amber, Bernat, John A, Bird, Lynne M, Cao, Kajia, de Brouwer, Arjan PM, Denenberg, Elizabeth H, Douglas, Ganka, Gibson, Kristin M, Grand, Katheryn, Goldenberg, Alice, Innes, A Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M, Owens, Martina M, Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire LS, Verbeek, Nienke E, Walsh, Laurence E, Warner, Taylor C, Wheeler, Patricia G, Wieczorek, Dagmar, Wilkens, Alisha B, Zonneveld-Huijssoon, Evelien, Study, Deciphering Developmental Disorders, Kleefstra, Tjitske, Robertson, Stephen P, Santani, Avni, van Gassen, Koen LI, Deardorff, Matthew A

المصدر: American Journal of Human Genetics. 101(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Dental/Oral and Craniofacial Disease, Rare Diseases, Neurodegenerative, Epilepsy, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Adaptor Proteins, Signal Transducing, Amino Acid Sequence, Base Sequence, Child, Preschool, Chromosome Deletion, Facies, Female, Gait, Growth and Development, Haploinsufficiency, Humans, Intellectual Disability, Male, Mutation, Proteins, RNA Stability, Seizures, Syndrome, Deciphering Developmental Disorders Study, WD-40, WDR protein, WDR26, intellectual disability, seizure, 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/0q21846mTest

المؤلفون: Luo, Minjie, Wong, Derek, Zelley, Kristin, Wu, Jinhua, Schubert, Jeffery, Denenberg, Elizabeth H, Fanning, Elizabeth A, Chen, Jiani, Gallo, Daniel, Golenberg, Netta, Patel, Maha, Conlin, Laura K, Maxwell, Kara N, Wertheim, Gerald B, Surrey, Lea F, Zhong, Yiming, Brodeur, Garrett M, MacFarland, Suzanne P, Li, Marilyn M

المصدر: JNCI: Journal of the National Cancer Institute ; ISSN 0027-8874 1460-2105

الإتاحة: https://doi.org/10.1093/jnci/djae102Test

المؤلفون: Murrell, Jill R., Nesbitt, Addie May I., Baker, Samuel W., Pechter, Kieran B., Balciuniene, Jorune, Zhao, Xiaonan, Denenberg, Elizabeth H., DeChene, Elizabeth T., Wu, Chao, Jayaraman, Pushkala, Cao, Kajia, Gonzalez, Michael, Devoto, Marcella, Testori, Alessandro, Monos, John D., Dulik, Matthew C., Conlin, Laura K., Luo, Minjie, McDonald Gibson, Kristin, Guan, Qiaoning, Sarmady, Mahdi, Bhoj, Elizabeth, Helbig, Ingo, Zackai, Elaine H., Bedoukian, Emma C., Wilkens, Alisha, Tarpinian, Jennifer, Izumi, Kosuke, Skraban, Cara M., Deardorff, Matthew A., Medne, Livija, Krantz, Ian D., Krock, Bryan L., Santani, Avni B.

المصدر: The Journal of Molecular Diagnostics ; volume 24, issue 3, page 274-286 ; ISSN 1525-1578

مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1016/j.jmoldx.2021.12.002Test
https://api.elsevier.com/content/article/PII:S1525157822000046?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1525157822000046?httpAccept=text/plainTest

المؤلفون: Baker, Samuel W., Murrell, Jill R., Nesbitt, Addie I., Pechter, Kieran B., Balciuniene, Jorune, Zhao, Xiaonan, Yu, Zhenming, Denenberg, Elizabeth H., DeChene, Elizabeth T., Wilkens, Alisha B., Bhoj, Elizabeth J., Guan, Qiaoning, Dulik, Matthew C., Conlin, Laura K., Abou Tayoun, Ahmad N., Luo, Minjie, Wu, Chao, Cao, Kajia, Sarmady, Mahdi, Bedoukian, Emma C., Tarpinian, Jennifer, Medne, Livija, Skraban, Cara M., Deardorff, Matthew A., Krantz, Ian D., Krock, Bryan L., Santani, Avni B.

المصدر: The Journal of Molecular Diagnostics ; volume 21, issue 1, page 38-48 ; ISSN 1525-1578

مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1016/j.jmoldx.2018.07.008Test
https://api.elsevier.com/content/article/PII:S152515781830062X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S152515781830062X?httpAccept=text/plainTest

المؤلفون: Feng Xu, Eshghi, Erfan Aref, Jinhua Wu, Schubert, Jeffrey, Wertheim, Gerald, Bhatti, Tricia, Pogoriler, Jennifer, Patel, Maha, Kajia Cao, Ariel Long, Zhiqian Fan, Denenberg, Elizabeth H., Fanning, Elizabeth A., Wilmoth, Donna M., Minjie Luo, Conlin, Laura K., Dain, Aleksandra S., Zelley, Kristin, Baldino, Sarah, Balamuth, Naomi

المصدر: Cold Spring Harbor Molecular Case Studies; Apr2022, Vol. 8 Issue 3, p1-6, 6p

مصطلحات موضوعية: LI-Fraumeni syndrome, DNA-binding proteins, DNA sequencing, GENETIC code, COMPLEMENTATION (Genetics), OSTEOSARCOMA in children

المؤلفون: Ritter, Alyssa L., McDougall, Carey, Skraban, Cara, Medne, Livija, Bedoukian, Emma C., Asher, Stephanie B., Balciuniene, Jorune, Campbell, Colleen D., Baker, Samuel W., Denenberg, Elizabeth H., Mazzola, Sarah, Fiordaliso, Sarah K., Krantz, Ian D., Kaplan, Paige, Ierardi‐Curto, Lynne, Santani, Avni B., Zackai, Elaine H., Izumi, Kosuke

المصدر: American Journal of Medical Genetics Part A ; volume 176, issue 9, page 1890-1896 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.40380Test

المؤلفون: Skraban, Cara M., Wells, Constance F., Markose, Preetha, Cho, Megan T., Nesbitt, Addie I., Au, P.Y. Billie, Begtrup, Amber, Bernat, John A., Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P.M., Denenberg, Elizabeth H., Douglas, Ganka, Gibson, Kristin M., Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M., Owens, Martina M., Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L.S., Verbeek, Nienke E., Walsh, Laurence E., Warner, Taylor C., Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B., Zonneveld-Huijssoon, Evelien, Deciphering Developmental Disorders Study, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorf, Matthew A.

المساهمون: Pediatrics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: WD-40, WDR protein, WDR26, Intellectual disability, Seizure

وصف الملف: application/pdf

العلاقة: American Journal of Human Genetics; Skraban, C. M., Wells, C. F., Markose, P., Cho, M. T., Nesbitt, A. I., Au, P. Y. B., … Deardorff, M. A. (2017). WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. American Journal of Human Genetics, 101(1), 139–148. http://doi.org/10.1016/j.ajhg.2017.06.002Test; https://hdl.handle.net/1805/16245Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.06.002Test
https://hdl.handle.net/1805/16245Test

المؤلفون: Chen, Jiani, Wu, Jinhua, Schubert, Jeff, Lin, Fumin, Denenberg, Elizabeth H., Muir, Alison, Romasko, Edward J., Fanning, Elizabeth A., Bhatti, Tricia R., Cole, Kristina Ann, Kreiger, Portia A., Mattei, Peter, Luo, Minjie, Zhong, Yiming, Resnick, Adam C, Storm, Phillip B, Santi, Mariarita, Surrey, Lea F., Li, Marilyn M.

المصدر: Journal of Clinical Oncology; 2023 Supplement 16, Vol. 41, pe22013-e22013, 1p

المؤلفون: Luo, Minjie¹ (AUTHOR), Surrey, Lea F.¹ (AUTHOR), Zhong, Yiming¹ (AUTHOR), Gallo, Daniel J.¹ (AUTHOR), Denenberg, Elizabeth H.¹ (AUTHOR), Fanning, Elizabeth A.¹ (AUTHOR), Lin, Fumin¹ (AUTHOR), Zhao, Xiaonan¹ (AUTHOR), Wu, Jinhua¹ (AUTHOR), Schubert, Jeffery¹ (AUTHOR), Zelley, Kristin¹ (AUTHOR), Paessler, Michele E.¹ (AUTHOR), Oved, Joseph H.¹ (AUTHOR), Hartung, Helge D.¹ (AUTHOR), Lambert, Michele P.¹ (AUTHOR), Kurre, Peter¹ (AUTHOR), Olson, Timothy S.¹ (AUTHOR), Li, Marilyn M.¹ (AUTHOR)

المصدر: Cancer Genetics. 2020 Supplement 1, Vol. 244, p12-12. 1p.

مصطلحات موضوعية: *HUMAN chromosome abnormality diagnosis, *BONE marrow, *SYNDROMES, *RECESSIVE genes, *MOLECULAR diagnosis