Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Robin Dawn Clark"'
Autor:
Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham Jr., Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Abstract The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say‐Barber‐Biesecker‐Young‐Simpson Syndrome and Genitopatel
Externí odkaz:
https://doaj.org/article/beed8cf5cfdc460cbcfd56990a49d6fd
Autor:
Subhadra Ramanathan, Robin Dawn Clark
Publikováno v:
Neonatology Today. 16:128-133
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::935d4a9fd9f249b2c985bcac3383fc17
https://doi.org/10.51362/neonatology.today/20211612128133
https://doi.org/10.51362/neonatology.today/20211612128133
Publikováno v:
Neonatology Today. :134-137
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e63da7f99f23c72e0bcad27c34201e90
https://doi.org/10.51362/neonatology.today/2021101610134137
https://doi.org/10.51362/neonatology.today/2021101610134137
Autor:
Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman, Jeffrey B. Ratliff, Marije Koopmans, Theresia Herget, Maja Hempel, Fanny Kortüm, Delphine Heron, Cyril Mignot, Boris Keren, Susan Brooks, Christina Botti, Bruria Ben-Zeev, Emanuela Argilli, Elliot H. Sherr, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Somayeh Bakhtiari, Michael C. Kruer, Mustafa A. Salih, Alma Kuechler, Eric A. Muller, Karli Blocker, Outi Kuismin, Kristen L. Park, Aaina Kochhar, Kathleen Brown, Subhadra Ramanathan, Robin Dawn Clark, Magdeldin Elgizouli, Gia Melikishvili, Nazhi Tabatadze, Zornitza Stark, Ghayda M. Mirzaa, Jinfon Ong, Ute Grasshoff, Andrea Bevot, Lydia von Wintzingerode, Rami Abou Jamra, Yvonne Hennig, Paula Goldenberg, Chadi Al Alam, Majida Charif, Redouane Boulouiz, Mohammed Bellaoui, Rim Amrani, Fuad Al Mutairi, Abdullah M. Tamim, Firdous Abdulwahab, Fowzan S. Alkuraya, Ebtissal Mohammad Khouj, Javeria Raza Alvi, Tipu Sulta, Narges Hashemi, Ehsan Ghayoor Karimiani, Farah Ashrafzadeh, Shima Imannezhad, Stephanie Efthymiou, Henry Houlden, Heinrich Sticht, Christiane Zweier
Publikováno v:
Genetics in Medicine. :100885
PURPOSE Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy (DEE) with early-onset seizures and severe intellectual disability. METHODS By international collaboration we assembled indivi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9259e38c2580f1a1c655eb69992c7df6
https://doi.org/10.1016/j.gim.2023.100885
https://doi.org/10.1016/j.gim.2023.100885
Autor:
Manisha, Brahmbhatt Sutariya, Robin Dawn, Clark, Suzanne, Wilson, Leidy, Vargas, Jun, Wang, Paul, Herrmann
Publikováno v:
Journal of the Association of Genetic Technologists. 46(3)
Whole-arm translocations are relatively rare among hematological malignancies. There are a few reports on der(18;21)(q10;q10). This is a recurrent but rare abnormality. Only about 11 cases harboring der(18;21)(q10;q10) have been reported. However, co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cdc8d485fa7776d9ca2a7cb9a72dbef1
https://pubmed.ncbi.nlm.nih.gov/32889803
https://pubmed.ncbi.nlm.nih.gov/32889803
Autor:
Robin Dawn Clark
Publikováno v:
Comprehensive Neonatal Nursing Care
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::153c8f27844e9e7d0f5343d0563d23c4
https://doi.org/10.1891/9780826139146.0040
https://doi.org/10.1891/9780826139146.0040
Publikováno v:
Prenatal diagnosis. 12(3)
A case is presented in which apparent non-mosaic trisomy 16 was found in chorionic villi (direct and culture) obtained from a patient undergoing first-trimester prenatal diagnosis. The fetal karyotype subsequently was determined to be 46,XX by follow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb1ed81bcf06e91896b8dcff9836e545
https://pubmed.ncbi.nlm.nih.gov/1589417
https://pubmed.ncbi.nlm.nih.gov/1589417
Publikováno v:
Health Policy. 16:176
We present a family who sought prenatal diagnosis in order to bear a healthy child to serve as an HLA-identical bone marrow donor for their son affected with Wiskott-Aldrich syndrome. They intended to abort HLA-incompatible fetuses who would have bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c032c247e9caff752dbe48887064648c
https://doi.org/10.1016/0168-8510(90)90164-9
https://doi.org/10.1016/0168-8510(90)90164-9
Publikováno v:
Prenatal Diagnosis. 10:549-549
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::486e0911ca7dc1cf7e4fe026195882dd
https://doi.org/10.1002/pd.1970100815
https://doi.org/10.1002/pd.1970100815
Publikováno v:
American Journal of Medical Genetics. 34:354-357
Setleis syndrome, an autosomal recessive disorder characterized by "coarse" face, temporal cutis aplasia, double upper eyelashes, absent lower eyelashes, chronic conjunctivitis, and prominent thick lips, was reported previously in 8 Puerto Rican chil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffa337da2e9802a3daf1d56216d2fa58
https://doi.org/10.1002/ajmg.1320340311
https://doi.org/10.1002/ajmg.1320340311