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Human Pathology|April 22, 2014
Morphologic and GATA1 sequencing analysis of hematopoiesis in fetuses with trisomy 21Sylvia Hoeller, Michel P Bihl, Alexandar Tzankov, et al.American Journal of Medical Genetics. Part A|April 2, 2010
Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndromeIsabel Filges, Benno Röthlisberger, Nemya Boesch, et al.American Journal of Medical Genetics. Part A|March 26, 2014
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genesDeborah Bartholdi, Asbjørg Stray-Pedersen, Silvia Azzarello-Burri, et al.Fertility and Sterility|August 27, 2011
A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesisIsabel Filges, Christophe Kunz, Peter Miny, et al.Fertility and Sterility|February 2, 2010
Parental origin and mechanism of formation of a 46,X,der(X)(pter-->q21.1::p11.4-->pter)/45,X karyotype in a woman with mild Turner syndromeFranz Binkert, Ana Spreiz, Martina Höckner, et al.Acta Physiologica (Oxford, England)|February 14, 2022
Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndromeLina Liang, Huihui Liu, Deborah Bartholdi, et al.Cellular Reprogramming|May 10, 2014
Gene expression profiles of similarly derived human embryonic stem cell lines correlate with their distinct propensity to exit stemness and their different differentiation behavior in cultureOliver Sterthaus, Anne-Catherine Feutz, Hong Zhang, et al.American Journal of Medical Genetics. Part A|January 24, 2009
Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: clinical and array-CGH study of a benign phenotype in a three-generation familyIsabel Filges, Benno Röthlisberger, Christoph Noppen, et al.Journal of Medical Genetics|November 2, 2010
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndromeIsabel Filges, Keiko Shimojima, Nobuhiko Okamoto, et al.Prenatal Diagnosis|May 10, 2006
Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicismSylvie Langlois, Paul J Yong, Siu Li Yong, et al.Pageof 9