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Gene|May 18, 2004
cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2Luciana Musante, Oliver Bartsch, Hans-Hilger Ropers, et al.
Chemistry & Biology|August 27, 2013
Synaptic MAGUK multimer formation is mediated by PDZ domains and promoted by ligand bindingNils Rademacher, Stella-Amrei Kunde, Vera M Kalscheuer, et al.
American Journal of Medical Genetics. Part A|August 5, 2025
CLCN4-Related Neurodevelopmental Condition: Characterization of Speech and Language AbilitiesAlexandra Garrett, Vera M Kalscheuer, Rebeca Ridings Figueroa, et al.
European Journal of Medical Genetics|June 1, 2013
HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disabilityMala Isrie, Vera M Kalscheuer, Maureen Holvoet, et al.
American Journal of Medical Genetics. Part A|October 18, 2011
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disabilityGertrud Strobl-Wildemann, Vera M Kalscheuer, Hao Hu, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restrictionRenée Carroll, Raman Kumar, Marie Shaw, et al.
BMC Medical Genetics|June 26, 2014
Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literatureBarbara Vona, Indrajit Nanda, Cordula Neuner, et al.
Human Mutation|September 16, 2014
Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutationsHao Hu, Thomas F Wienker, Luciana Musante, et al.
European Journal of Medical Genetics|June 10, 2006
Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotypeGiovanna Piovani, Giuseppe Borsani, Valeria Bertini, et al.
Human Genetics|January 19, 2013
Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patientsStella-Amrei Kunde, Nils Rademacher, Andreas Tzschach, et al.
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