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.

Ingår i Journal of Lipid Research, 2023

• DOI för The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy
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Mutations in HECW2 are associated with intellectual disability and epilepsy

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

Ingår i Journal of Medical Genetics, s. 697-704, 2016

• DOI för Mutations in HECW2 are associated with intellectual disability and epilepsy
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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

Ingår i European Journal of Medical Genetics, s. 259-263, 2014

• DOI för 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

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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.

Ingår i European Journal of Human Genetics, s. 959-964, 2011

• DOI för 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.

Ingår i Journal of Lipid Research, 2023

• DOI för The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy
• Ladda ner fulltext (pdf) av 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.

Ingår i Journal of Medical Genetics, s. 697-704, 2016

• DOI för Mutations in HECW2 are associated with intellectual disability and epilepsy
• Ladda ner fulltext (pdf) av 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

Ingår i European Journal of Medical Genetics, s. 259-263, 2014

• DOI för 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.

Ingår i European Journal of Human Genetics, s. 959-964, 2011

• DOI för 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.

Ingår i Molecular Syndromology, s. 75-81, 2010

• DOI för 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.

Ingår i European Journal of Medical Genetics, s. 501-510, 2008

• DOI för Clinical variability of the 22q11.2 duplication syndrome
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Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability

Wentzel, Christian

2013

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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