H. Peters

H. Kosmehl, H. Peters, J. Clement, 2005, Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery.

Two novel mutations in exons 19a and 20 and a BsaI polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene

L. Kluwe, S. Tinschert, D. Kaufmann, 1998, Human Genetics.

[Clinical and molecular genetic observations on families with cherubism over three generations].

H. Peters, J. Bill, M. Stiller, 2003, Mund-, Kiefer- und Gesichtschirurgie : MKG.

Craniosynostosis in cherubism.

H. Peters, W. Golder, M. Stiller, 2000, American journal of medical genetics.

Bilateral cochlear implantation in children with Noonan syndrome.

C. Scheiber, H. Peters, H. Olze, 2009, International journal of pediatric otorhinolaryngology.

Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.

D. Parkhomchuk, J. Hentschel, H. Peters, 2016, Gene.

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype

P. Bauer, O. Riess, A. Rolfs, 2004, Journal of Medical Genetics.

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.

A. Wittinghofer, M. Ahmadian, M. Schuelke, 1998, Human molecular genetics.

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

P. Nürnberg, R. Fahsold, S. Tinschert, 2000, American journal of human genetics.

Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients

S. Tinschert, H. Peters, A. Harder, 2010, European Journal of Human Genetics.

A novel mutation L1425p in the GAP‐region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE);

R. Fahsold, H. Peters, M. Schülke, 1999, Human mutation.

A novel 5‐bp deletion in exon 30 of the neurofibromatosis type 1 (NF1) gene

P. Nürnberg, S. Tinschert, H. Peters, 1999 .

Two novel mutations in exons 19a and 20 and a BsaBI [correction of BsaI] polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene.

L. Kluwe, S. Tinschert, D. Kaufmann, 1998, Human Genetics.

The gene for cherubism maps to chromosome 4p16.

F. Salzano, B. Olsen, H. Peters, 1999, American journal of human genetics.

Monozygotic Twins With Neurofibromatosis Type 1 (NF1) Display Differences in Methylation of NF1 Gene Promoter Elements, 5' Untranslated region, Exon and Intron 1

S. Mundlos, K. Wimmer, T. Rosenbaum, 2010, Twin Research and Human Genetics.

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice

I. Scheffer, K. Choy, N. Pachter, 2008, Journal of Medical Genetics.

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23)

H. Ropers, V. Kalscheuer, A. Tzschach, 2008, Ophthalmic genetics.

Lipomatous myelomeningocele, athyrotic hypothyroidism, and sensorineural deafness: a new form of syndromal deafness?

H. Peters, A. Bankier, 1998, Journal of medical genetics.

A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities

F. Erdogan, H. Peters, R. Spiegel, 2009, American journal of medical genetics. Part A.

Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation

S. Mundlos, N. Brunetti‐Pierri, C. Ott, 2008, American journal of medical genetics. Part A.

Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant

H. Peters, E. Mayatepek, T. Meissner, 2008, Journal of Human Genetics.

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

M. Greene, D. Mitter, H. Peters, 2015, British Journal of Cancer.

Trinucleotide repeat expansions in the junctophilin‐3 gene are not found in caucasian patients with a huntington's disease‐like phenotype

C. Ross, P. Bauer, R. Margolis, 2002, Annals of neurology.

Comparative proteomics in neurodegenerative and non-neurodegenerative diseases suggest nodal point proteins in regulatory networking.

Joachim Klose, Lei Mao, Hartmut Peters, 2006, Journal of proteome research.