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American Journal of Medical Genetics. Part A|August 15, 2006
Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCRDiana Mitter, Karin Buiting, Ferdinand von Eggeling, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Five patients with novel overlapping interstitial deletions in 8q22.2q22.3Alma Kuechler, Karen Buysse, Jill Clayton-Smith, et al.
International Journal of Molecular Sciences|February 25, 2023
Novel Variants of SOX4 in Patients with Intellectual DisabilityMartin Grosse, Alma Kuechler, Tabib Dabir, et al.
Mutation Research|April 26, 2003
Human adenoma cells are highly susceptible to the genotoxic action of 4-hydroxy-2-nonenalAnja Schaeferhenrich, Gabriele Beyer-Sehlmeyer, Grit Festag, et al.
American Journal of Medical Genetics. Part A|April 1, 2009
Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndromeDagmar Wieczorek, Blanca Gener, Ma Jesús Martínez González, et al.
American Journal of Medical Genetics. Part A|January 11, 2021
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal studyAndrea Gangfuß, Gökhan Yigit, Janine Altmüller, et al.
Orphanet Journal of Rare Diseases|September 10, 2020
Further evidence for POMK as candidate gene for WWS with meningoencephaloceleLuisa Paul, Katrin Rupprich, Adela Della Marina, et al.
Human Genetics|May 26, 2018
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomaliesDaniel Fritzen, Alma Kuechler, Mona Grimmel, et al.
Orphanet Journal of Rare Diseases|October 20, 2020
The adult phenotype of Schaaf-Yang syndromeFelix Marbach, Magdeldin Elgizouli, Megan Rech, et al.
Orphanet Journal of Rare Diseases|September 24, 2013
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityJohanna Christina Czeschik, Peter Bauer, Karin Buiting, et al.
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