Concepedia

Author

Peter Nürnberg

University of CologneORCID

Also Known As

Cemil Özcelik, Maria Giovanna Riparbelli, Peter Nürnberg

7

Publications

929

Citations

6

H-Index

14

Concepts

All Affiliations

University of CologneThe University of Western AustraliaCharité - Universitätsmedizin BerlinHôpital Necker-Enfants MaladesKing Edward Memorial Hospital
PN

About

Peter Nürnberg is an author at University of Cologne specializing in medicine, developmental biology, and molecular genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

3

3

565

2

Molecular Genetics

2

2

253

3

Neurology

1

1

312

4

Neuroscience

1

1

312

5

Pathology

1

1

13

Peter Nürnberg

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5

Publications

760

Citations

5

H-Index

YearCitations

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Christiane Zweier, Maarit Peippo, Juliane Hoyer,

The American Journal of Human Genetics

2007

312

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

Peter Nürnberg, Hölger Thiele, David Chandler,

Nature Genetics

2001

240

Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Nina Bögershausen, Vincent Gâtinois, Vera Riehmer,

Human Mutation

2016

183

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling

William Dufour, Salem Alawbathani, Anne‐Sophie Jourdain,

Genetics in Medicine

2022

13

Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8

Denise Horn, Peter N. Robinson, Annett Böddrich,

Electrophoresis

1996

12

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