H. Jensen

发表

Axonal loss occurs early in dominant optic atrophy

M. Larsen, H. Lund‐Andersen, D. Milea, 2009, Acta ophthalmologica.

A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia

Z. Tümer, K. Grønskov, H. Jensen, 2014, Clinical genetics.

Interstitial deletion of 14q24.3‐q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

Z. Tümer, N. Tommerup, H. Ropers, 2011, American journal of medical genetics. Part A.

Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.

M. Larsen, D. Sharon, E. Banin, 2014, American journal of ophthalmology.

Usher syndrome in Denmark

T. Rosenberg, L. Møller, K. Grønskov, 2018 .

Prevalence and Diagnostic Spectrum of Generalized Retinal Dystrophy in Danish Children

M. Larsen, B. Lorenz, T. Rosenberg, 2013, Ophthalmic epidemiology.

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

M. Bitner-Glindzicz, C. Möller, T. Bek, 2018, Human Genetics.

Prevalence of Generalized Retinal Dystrophy in Denmark

T. Rosenberg, H. Jensen, Mette Bertelsen, 2014, Ophthalmic epidemiology.

Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function

Z. Tümer, K. Grønskov, H. Jensen, 2015, BMC Medical Genetics.

OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS

M. Larsen, H. Jensen, M. S. Hansen, 2016, Retinal cases & brief reports.

Partial USH2A deletions contribute to Usher syndrome in Denmark

N. Tommerup, T. Rosenberg, A. Albrechtsen, 2015, European Journal of Human Genetics.

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

Z. Tümer, T. Rosenberg, K. Brøndum‐Nielsen, 2020, Investigative Ophthalmology and Visual Science.

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Z. Tümer, T. Rosenberg, Jianguo Zhang, 2019, Scientific Reports.

Absence of NR2E1 mutations in patients with aniridia

E. Simpson, A. Brooks-Wilson, M. Walter, 2012, Molecular vision.

T. Rosenberg, F. Raymond, K. Carss, 2019 .

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

Julie C. Sapp, L. Biesecker, J. Johnston, 2018, American journal of human genetics.

A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family

H. Eiberg, G. Nürnberg, P. Nürnberg, 2008, American journal of medical genetics. Part A.

Usher syndrome in Denmark: mutation spectrum and some clinical observations

T. Rosenberg, A. Roux, H. Karstensen, 2016, Molecular genetics & genomic medicine.

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

Z. Tümer, T. Rosenberg, K. Brøndum‐Nielsen, 2020, Genes.

Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark

Z. Tümer, K. Grønskov, H. Jensen, 2016, Ophthalmic epidemiology.

Partial USH2A deletions contribute to Usher syndrome in Denmark

N. Tommerup, T. Rosenberg, A. Albrechtsen, 2015, European Journal of Human Genetics.

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

M. Bitner-Glindzicz, C. Möller, T. Bek, 2018, Human Genetics.

Interstitial deletion of 14q24.3‐q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

Z. Tümer, N. Tommerup, H. Ropers, 2011, American journal of medical genetics. Part A.