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J Kohlhase Selected Research

Epidermolysis bullosa with pyloric atresia

7/2013Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations.
1/2012Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene.

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J Kohlhase Research Topics

Disease

2Epidermolysis bullosa with pyloric atresia
07/2013 - 01/2012
2Epidermolysis Bullosa Dystrophica (Dystrophic Epidermolysis Bullosa)
05/2011 - 11/2009
1Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris)
01/2019
1Epidermolysis Bullosa
07/2013
1Blister (Bulla)
01/2012
1Junctional Epidermolysis Bullosa (Epidermolysis Bullosa Letalis)
01/2012
1Lafora Disease
07/2010
1Glycogen Storage Disease Type IV (Andersen's Disease)
07/2010
1Epidermolysis Bullosa Simplex (Epidermolysis Bullosa Herpetiformis Dowling Meara)
06/2010
1Alzheimer Disease (Alzheimer's Disease)
01/2009
1Dementia (Dementias)
01/2009
1Amyloid angiopathy
01/2009
1Poikiloderma of Kindler
11/2008
1Infections
08/2008
1Pruritus (Itching)
08/2008
1Classical Lissencephalies and Subcortical Band Heterotopias
07/2007
1Fetal Diseases (Embryopathy)
07/2003
1Duane Retraction Syndrome (Duane Syndrome)
07/2003
1Holt-Oram syndrome
07/2003
1Townes-Brocks syndrome
12/2001

Drug/Important Bio-Agent (IBA)

3IntegrinsIBA
07/2013 - 11/2008
3Proteins (Proteins, Gene)FDA Link
01/2009 - 07/2007
1AlitretinoinFDA Link
01/2019
1Collagen Type VIIIBA
05/2011
1Glycine (Aminoacetic Acid)FDA LinkGeneric
05/2011
1polyglucosanIBA
07/2010
1Keratin-14 (Keratin 14)IBA
06/2010
1Keratin-5 (Keratin 5)IBA
06/2010
1CollagenIBA
11/2009
1Amyloid (Amyloid Fibrils)IBA
01/2009
1Amyloid beta-PeptidesIBA
01/2009
1tau Proteins (tau Protein)IBA
01/2009
1Thyroid HormonesIBA
08/2008
1Thalidomide (Thalomid)FDA Link
07/2003
1Transcription Factors (Transcription Factor)IBA
07/2003
1HeterochromatinIBA
12/2001

Therapy/Procedure

1Therapeutics
07/2010