Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Maartje ten Hooven‐Radstaake"'
Autor:
Jessica Duis, Mark Nespeca, Jane Summers, Lynne Bird, Karen G.C.B. Bindels‐de Heus, M. J. Valstar, Marie‐Claire Y. deWit, C. Navis, Maartje ten Hooven‐Radstaake, Bianca M. vanIperen‐Kolk, Susan Ernst, Melina Dendrinos, Terry Katz, Gloria Diaz‐Medina, Akshat Katyayan, Srishti Nangia, Ronald Thibert, Daniel Glaze, Christopher Keary, Karine Pelc, Nicole Simon, Anjali Sadhwani, Helen Heussler, Anne Wheeler, Caroline Woeber, Margaret DeRamus, Amy Thomas, Emily Kertcher, Lauren DeValk, Kristen Kalemeris, Kara Arps, Carol Baym, Nicole Harris, John P. Gorham, Brenda L. Bohnsack, Reid C. Chambers, Sarah Harris, Henry G. Chambers, Katherine Okoniewski, Elizabeth R. Jalazo, Allyson Berent, Carlos A. Bacino, Charles Williams, Anne Anderson
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 3, Pp n/a-n/a (2022)
Abstract Background Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnor
Externí odkaz:
https://doaj.org/article/eb69721114bc440fbbb670148e293148
Autor:
Jessica Duis, Mark Nespeca, Jane Summers, Lynne Bird, Karen G.C.B. Bindels‐de Heus, M. J. Valstar, Marie‐Claire Y. Wit, C. Navis, Maartje ten Hooven‐Radstaake, Bianca M. Iperen‐Kolk, Susan Ernst, Melina Dendrinos, Terry Katz, Gloria Diaz‐Medina, Akshat Katyayan, Srishti Nangia, Ronald Thibert, Daniel Glaze, Christopher Keary, Karine Pelc, Nicole Simon, Anjali Sadhwani, Helen Heussler, Anne Wheeler, Caroline Woeber, Margaret DeRamus, Amy Thomas, Emily Kertcher, Lauren DeValk, Kristen Kalemeris, Kara Arps, Carol Baym, Nicole Harris, John P. Gorham, Brenda L. Bohnsack, Reid C. Chambers, Sarah Harris, Henry G. Chambers, Katherine Okoniewski, Elizabeth R. Jalazo, Allyson Berent, Carlos A. Bacino, Charles Williams, Anne Anderson
Publikováno v:
Molecular geneticsgenomic medicine. 10(3)
Background: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal elec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9928973a20c7e642e2e28733eb49752
https://pubmed.ncbi.nlm.nih.gov/35150089
https://pubmed.ncbi.nlm.nih.gov/35150089
Autor:
Sabine E. Mous, Bianca M. van Iperen‐Kolk, Marie-Claire Y. de Wit, Henriëtte A. Moll, Ype Elgersma, Leontine W. ten Hoopen, Alice S. Brooks, Maartje ten Hooven‐Radstaake, Karen Bindels-de Heus, Cindy Navis, André B. Rietman
Publikováno v:
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics, Part A, 182, 53-63. Wiley-Liss Inc.
American Journal of Medical Genetics, Part A, 182, 53-63. Wiley-Liss Inc.
This study presents a broad overview of health issues and psychomotor development of 100 children with Angelman syndrome (AS), seen at the ENCORE Expertise Center for AS in Rotterdam, the Netherlands. We aimed to further delineate the phenotype of AS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::938d97adf5ce5783aff276542436fe1e
https://doi.org/10.1002/ajmg.a.61382
https://doi.org/10.1002/ajmg.a.61382