Eva Wohlleber

Bonn, NW, Germany

Last Updated: 09/26/2026

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Found 11 publications

Nine newly identified individuals refine the phenotype associated with MYT1L mutations.

Nine newly identified individuals refine the phenotype associated with MYT1L mutations.

Journal: American journal of medical genetics. Part A

Published: November 07, 2019

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.

Journal: American journal of medical genetics. Part A

Published: October 07, 2015

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

Journal: Molecular cytogenetics

Published: July 17, 2015

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

Journal: American journal of human genetics

Published: June 08, 2015

Recurrent null mutation in SPG20 leads to Troyer syndrome.

Recurrent null mutation in SPG20 leads to Troyer syndrome.

Journal: Molecular and cellular probes

Published: February 26, 2015

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.

Journal: European journal of human genetics : EJHG

Published: April 11, 2014

Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.

Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.

Journal: Molecular syndromology

Published: November 04, 2013

5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability.

5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability.

Journal: Molecular syndromology

Published: May 29, 2012

Familial translocation t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p: report of a new case and review of the literature.

Familial translocation t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p: report of a new case and review of the literature.

Journal: Cytogenetic and genome research

Published: January 23, 2012

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

Journal: American journal of human genetics

Published: October 19, 2011

Phenotypic spectrum associated with CASK loss-of-function mutations.

Phenotypic spectrum associated with CASK loss-of-function mutations.

Journal: Journal of medical genetics

Published: September 29, 2011

Showing 1-11 of 11

Last Updated: 09/26/2026