K. Eggermann

发表

Genetic pain loss disorders

David L. Bennett, T. Hornemann, Y. Parman, 2022, Nature Reviews Disease Primers.

Differential diagnosis of vacuolar myopathies in the NGS era

A. Ferbert, W. Brück, W. Kress, 2019, Nervenheilkunde.

Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39

C. Eggers, I. Kurth, K. Eggermann, 2022, Journal of Neurology.

Newborn Screening for SMA - Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?

A. Blaschek, H. Kölbel, D. Gläser, 2022, Journal of neuromuscular diseases.

Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children

I. Kurth, A. Saini, R. Suthar, 2022, Neurology India.

Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases

T. Eggermann, H. Engels, E. Koltai, 2002, Clinical genetics.

Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39

C. Eggers, I. Kurth, K. Eggermann, 2022, Journal of Neurology.

Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients

T. Eggermann, H. Wollmann, M. Ranke, 2001, Journal of medical genetics.

Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability.

I. Kurth, M. Elbracht, C. Knopp, 2022, Deutsches Arzteblatt international.

Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy

I. Kurth, G. Korenke, E. Bültmann, 2022, Genes.

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort

T. Neuhann, A. von Moers, I. Kurth, 2023, Journal of neuromuscular diseases.

Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany

A. Blaschek, A. von Moers, I. Brockow, 2022, Journal of neuromuscular diseases.

(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?

T. Eggermann, N. Schoenherr, H. Wollmann, 2006, European journal of medical genetics.

Novel Splice-Site and Missense Variant of PNPLA6 in an Austrian Family Causing Spastic Paraplegia-39 with Cerebellar Oculomotor Disorder

C. Eggers, I. Kurth, K. Eggermann, 2022 .

Origin of uniparental disomy 6: presentation of a new case and review on the literature.

K. Zerres, T. Eggermann, S. Mergenthaler, 2001, Annales de genetique.

Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain

T. Eggermann, N. Schoenherr, H. Wollmann, 2005, Journal of Medical Genetics.

Congenital heart disease is a feature of severe infantile spinal muscular atrophy

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 2008, Journal of Medical Genetics.

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

David L. Bennett, T. Hornemann, S. Züchner, 2023, Brain : a journal of neurology.

Genotype–phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling

B. Wirth, K. Zerres, S. Rudnik-Schöneborn, 2009, Clinical genetics.

Differential diagnosis of vacuolar myopathies in the NGS era

A. Ferbert, W. Brück, W. Kress, 2020, Brain pathology.

Diagnostic algorithms in Charcot–Marie–Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

D. Wieczorek, K. Zerres, S. Rudnik-Schöneborn, 2016, Clinical genetics.