Works by Talsma, Herman E.

Results: 7

Guest editorial: ISCEV Symposium 2025, Utrecht, The Netherlands.

Published in:

Documenta Ophthalmologica, 2025, v. 150, p. 1, doi. 10.1007/s10633-025-10033-2

By:

van Genderen, Maria M.;
Talsma, Herman E.

Publication type:

Article

Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation.

Published in:

Acta Ophthalmologica (1755375X), 2021, v. 99, n. 4, p. 397, doi. 10.1111/aos.14630

By:

Kuper, Willemijn F. E.;
Talsma, Herman E.;
Schooneveld, Mary J.;
Pott, Jan Willem R.;
Huijgen, Barbara C. H.;
Wit, Gerard C.;
Hasselt, Peter M.;
Genderen, Maria M.

Publication type:

Article

Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies.

Published in:

Acta Ophthalmologica (1755375X), 2021, v. 99, n. 3, p. e402, doi. 10.1111/aos.14597

By:

Talib, Mays;
Schooneveld, Mary J.;
Wijnholds, Jan;
Genderen, Maria M.;
Schalij‐Delfos, Nicoline E.;
Talsma, Herman E.;
Florijn, Ralph J.;
Brink, Jacoline B.;
Cremers, Frans P.M.;
Thiadens, Alberta A.H.J.;
Born, L. Ingeborgh;
Hoyng, Carel B.;
Meester‐Smoor, Magda A.;
Bergen, Arthur A.;
Boon, Camiel J.F.

Publication type:

Article

Correction: Littink, K.W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68.

Published in:

2018

By:

Littink, Karin W.;
Stappers, Patricia T.Y.;
Riemslag, Frans C.C.;
Talsma, Herman E.;
van Genderen, Maria M.;
Cremers, Frans P.M.;
Collin, Rob W.J.;
van den Born, L. Ingeborgh

Publication type:

Correction Notice

Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome.

Published in:

Genes, 2018, v. 9, n. 2, p. 68, doi. 10.3390/genes9020068

By:

Littink, Karin W.;
Stappers, Patricia T. Y.;
Riemslag, Frans C. C.;
Talsma, Herman E.;
van Genderen, Maria M.;
Cremers, Frans P. M.;
Collin, Rob W. J.;
van den Born, L. Ingeborgh

Publication type:

Article

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.

Published in:

Genes, 2017, v. 8, n. 8, p. 208, doi. 10.3390/genes8080208

By:

Roosing, Susanne;
Cremers, Frans P. M.;
Riemslag, Frans C. C.;
Zonneveld-Vrieling, Marijke N.;
Talsma, Herman E.;
Klessens-Godfroy, Francoise J. M.;
den Hollander, Anneke I.;
van den Born, L. Ingeborgh

Publication type:

Article

Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2204, doi. 10.1002/ajmg.a.62225

By:

Veldman, Bram C. F.;
Kuper, Willemijn F. E.;
Lilien, Marc;
Schuurs‐Hoeijmakers, Janneke H. M.;
Marcelis, Carlo;
Phan, Milan;
Hettinga, Ymkje;
Talsma, Herman E.;
Hasselt, Peter M.;
Haijes, Hanneke A.

Publication type:

Article