Showing results (1011-1020 of 9,283) with videos related to
Sort By:
Pageof 929
American Journal of Medical Genetics. Part A|October 21, 2011
Clinical manifestations and management of four children with Pearson syndromeManuela Tumino, Concetta Meli, Piero Farruggia, et al.American Journal of Medical Genetics. Part A|October 15, 2011
Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGHMarwa I Shehab, Inas Mazen, Susan BintAmerican Journal of Medical Genetics. Part A|October 15, 2011
Mosaic trisomy 17: variable clinical and cytogenetic presentationRobert Daber, Kimberly A Chapman, Eduardo Ruchelli, et al.American Journal of Medical Genetics. Part A|November 2, 2011
A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic featuresVazken M Der Kaloustian, Laura Russell, Swaroop Aradhya, et al.American Journal of Medical Genetics. Part A|November 5, 2011
A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopiaMargriet van Kogelenberg, Margherita Lerone, Teresa De Toni, et al.American Journal of Medical Genetics. Part A|November 5, 2011
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndromeDar-Shong Lin, Jui-Hsing Chang, Hsuan-Liang Liu, et al.American Journal of Medical Genetics. Part A|October 13, 2011
A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental featuresJun Liao, Stephanie J DeWard, Suneeta Madan-Khetarpal, et al.American Journal of Medical Genetics. Part A|October 13, 2011
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD)Ziva Ben-Neriah, Rachel Michaelson-Cohen, Michal Inbar-Feigenberg, et al.American Journal of Medical Genetics. Part A|October 13, 2011
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndromePaolo Prontera, Emanuela Garelli, Ilenia Isidori, et al.American Journal of Medical Genetics. Part A|October 18, 2011
The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplicationMaria Piccione, Davide Vecchio, Simona Cavani, et al.Pageof 929