Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Kelly Kennelly"'
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 16, Iss 2, Pp 199-204 (2015)
We report on the molecular detection of two microduplications involving chromosomes Xp21.1–Xp21.2 and 17p12 in a 35-year-old female with clinical phenotype of Charcot–Marie–Tooth disease type 1A (CMT1A) documented by chromosomal microarray anal
Externí odkaz:
https://doaj.org/article/e8fd60b51f92434cb0ff81b180c59a3b
Autor:
Marco Angelozzi, Anirudha Karvande, Arnaud N Molin, Alyssa L Ritter, Jacqueline M M Leonard, Juliann M Savatt, Kristen Douglass, Scott M Myers, Mina Grippa, Dara Tolchin, Elaine Zackai, Sarah Donoghue, Anna C E Hurst, Maria Descartes, Kirstin Smith, Danita Velasco, Andrew Schmanski, Amy Crunk, Mari J Tokita, Iris M de Lange, Koen van Gassen, Hannah Robinson, Katie Guegan, Mohnish Suri, Chirag Patel, Marie Bournez, Laurence Faivre, Frédéric Tran-Mau-Them, Janice Baker, Noelle Fabie, K Weaver, Amelle Shillington, Robert J Hopkin, Daniela Q C.M Barge-Schaapveld, Claudia AL Ruivenkamp, Regina Bökenkamp, Samantha Vergano, Maria Noelia Seco Moro, Aranzazu Díaz de Bustamante, Vinod K Misra, Kelly Kennelly, Caleb Rogers, Jennifer Friedman, Kristen M Wigby, Jerica Lenberg, Claudio Graziano, Rebecca C Ahrens-Nicklas, Veronique Lefebvre
Publikováno v:
Journal of Medical Genetics, 59(11), 1058-1068. BMJ PUBLISHING GROUP
J Med Genet
J Med Genet
BackgroundA neurodevelopmental syndrome was recently reported in four patients withSOX4heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowledge of this s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fcc7109453ac5c5dd3b5ae4e14c6a32
http://hdl.handle.net/1887/3563135
http://hdl.handle.net/1887/3563135
Publikováno v:
Journal of the American Academy of Dermatology. 87:AB84
Publikováno v:
Clinical Dysmorphology. 24:128-131
Akademický článek
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