Detail page

Knowledge Web

Person

Ekkehart Lausch (1964-)

Kinderarzt

Name	Ekkehart Lausch
Time	1964- (Date of birth and death)
Place	Freiburg im Breisgau (Wirkungsort) Deutschland
Academic degree	PD Dr. med.
Profession	Kinderarzt (characteristic profession)
Variant	E. Lausch Ekkehart U. Lausch Ekkehart Ullrich Lausch
Related	Klinik für Allgemeine Kinder- und Jugendmedizin
Further information	Diss. an der Medizinischen Fakultät der Universität Mainz, 2000 Habil.-Schr. an der Medizinischen Fakultät der Universität Freiburg (Breisgau), 2013 Facharzt für Pädiatrie und Humangenetik
Record type	Person
GND-Identifier	122659252
Record ID	122659252
Involved in show all Vosoritide therapy in children with achondroplasia: early experience and practical considerations for clinical practice Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice Morphologische und transkriptionelle Untersuchung ziliärer Chondrodysplasien in Xenopus tropicalis Potassium channel Kir6.1 is associated with the progression of hereditary multiple osteochondromas A homozygous deletion of exon 5 of KYNU resulting from a maternal chromosome 2 isodisomy (UPD2) causes Catel-Manzke-Syndrome/VCRL syndrome Isolated hypomethylation of IGF2 associated with severe hypoglycemia responsive to growth hormone treatment Marfan syndrome caused by disruption of the FBN1 gene due to a reciprocal chromosome translocation Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease Uncovering pathways regulating chondrogenic differentiation of CHH fibroblasts Hypomorphic mutations of TRIP11 cause dontochondrodysplasia Unsuccessful intravenous D-mannose treatment in PMM2-CDG A common pathomechanism in GMAP-210– and LBR-related diseases Genetic and clinical heterogeneity of achondrogenesis type 1A and odontochondrodysplasia Clinical and molecular heterogeneity of RTEL1 deficiency CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome Corrigendum: Clinical and molecular heterogeneity of RTEL1 deficiency Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation Hereditäre Skeletterkrankungen unter besonderer Berücksichtigung der Gruppe genetisch entzündlicher/rheumatoider Osteoarthropathien GenToS: use of orthologous gene information to prioritize signals from human GWAS Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement Molekulare Pathophysiologie angeborener Skelettentwicklungsstörungen Gentechnische Synthese der Kapsidproteine des humanen Papillomvirus Typ 33 in Escherichia coli

Please note

The beta version does not yet contain all functions and information of the DNB portal catalogue. If you are missing information or want to order a medium, please visit the page in the DNB portal catalogue via the following link:

Katalog der Deutschen Nationalbibliothek

Ekkehart Lausch (1964-)

Vosoritide therapy in children with achondroplasia: early experience and practical considerations for clinical practice

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice

Morphologische und transkriptionelle Untersuchung ziliärer Chondrodysplasien in Xenopus tropicalis

Potassium channel Kir6.1 is associated with the progression of hereditary multiple osteochondromas

A homozygous deletion of exon 5 of KYNU resulting from a maternal chromosome 2 isodisomy (UPD2) causes Catel-Manzke-Syndrome/VCRL syndrome

Isolated hypomethylation of IGF2 associated with severe hypoglycemia responsive to growth hormone treatment

Marfan syndrome caused by disruption of the FBN1 gene due to a reciprocal chromosome translocation

Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease

Uncovering pathways regulating chondrogenic differentiation of CHH fibroblasts

Hypomorphic mutations of TRIP11 cause dontochondrodysplasia

Unsuccessful intravenous D-mannose treatment in PMM2-CDG

A common pathomechanism in GMAP-210– and LBR-related diseases

Genetic and clinical heterogeneity of achondrogenesis type 1A and odontochondrodysplasia

Clinical and molecular heterogeneity of RTEL1 deficiency

CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome

Corrigendum: Clinical and molecular heterogeneity of RTEL1 deficiency

Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation

Hereditäre Skeletterkrankungen unter besonderer Berücksichtigung der Gruppe genetisch entzündlicher/rheumatoider Osteoarthropathien

GenToS: use of orthologous gene information to prioritize signals from human GWAS

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Molekulare Pathophysiologie angeborener Skelettentwicklungsstörungen

Gentechnische Synthese der Kapsidproteine des humanen Papillomvirus Typ 33 in Escherichia coli