Christian Wentzel

The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy

Hülsmeier, Andreas J.; Toelle, Sandra P.; Bellstedt, Peter; Wentzel, Christian et al.

Part of Journal of Lipid Research, 2023

• DOI for The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy
• Download full text (pdf) of The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy

Mutations in HECW2 are associated with intellectual disability and epilepsy

Halvardson, Jonatan; Zhao, Jin J.; Zaghlool, Ammar; Wentzel, Christian et al.

Part of Journal of Medical Genetics, p. 697-704, 2016

• DOI for Mutations in HECW2 are associated with intellectual disability and epilepsy
• Download full text (pdf) of Mutations in HECW2 are associated with intellectual disability and epilepsy

A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another

Wentzel, Christian; Annerén, Göran; Thuresson, Ann-Charlotte

Part of European Journal of Medical Genetics, p. 259-263, 2014

• DOI for A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another

Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability

Wentzel, Christian

2013

• Download full text (pdf) of Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

Wentzel, Christian; Rajcan-Separovic, Evica; Ruivenkamp, Claudia A. L.; Chantot-Bastaraud, Sandra et al.

Part of European Journal of Human Genetics, p. 959-964, 2011

• DOI for Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy

Hülsmeier, Andreas J.; Toelle, Sandra P.; Bellstedt, Peter; Wentzel, Christian et al.

Part of Journal of Lipid Research, 2023

• DOI for The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy
• Download full text (pdf) of The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy

Mutations in HECW2 are associated with intellectual disability and epilepsy

Halvardson, Jonatan; Zhao, Jin J.; Zaghlool, Ammar; Wentzel, Christian et al.

Part of Journal of Medical Genetics, p. 697-704, 2016

• DOI for Mutations in HECW2 are associated with intellectual disability and epilepsy
• Download full text (pdf) of Mutations in HECW2 are associated with intellectual disability and epilepsy

A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another

Wentzel, Christian; Annerén, Göran; Thuresson, Ann-Charlotte

Part of European Journal of Medical Genetics, p. 259-263, 2014

• DOI for A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

Wentzel, Christian; Rajcan-Separovic, Evica; Ruivenkamp, Claudia A. L.; Chantot-Bastaraud, Sandra et al.

Part of European Journal of Human Genetics, p. 959-964, 2011

• DOI for Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype

Wentzel, Christian; Lynch, S. A.; Stattin, E.-L.; Sharkey, F. H. et al.

Part of Molecular Syndromology, p. 75-81, 2010

• DOI for Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype

Clinical variability of the 22q11.2 duplication syndrome

Wentzel, Christian; Fernström, Maria; Öhrner, Ylva; Annerén, Göran et al.

Part of European Journal of Medical Genetics, p. 501-510, 2008

• DOI for Clinical variability of the 22q11.2 duplication syndrome
• Download full text (pdf) of Clinical variability of the 22q11.2 duplication syndrome

Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability

Wentzel, Christian

2013

• Download full text (pdf) of Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability

Unbalanced de novo translocation in mother resulting in one child with a 6q13-q16 deletion and one child with a 6q13-q16 duplication

Wentzel, Christian; Annerén, Göran; Thuresson, Ann-Charlotte