Effects of DTL electrode position on the amplitude and implicit time of the electroretinogram

von Brouwer, Anna H., de Wit, Gerard C., de Boer, Joke H., van Genderen, Maria M.
Veröffentlicht in Doc Ophthalmol (2019)

Electroretinogram abnormalities in nonanterior childhood uveitis

von Brouwer, Anna H., van Genderen, Maria. M., de Wit, Gerard C., de Boer, Joke H.
Veröffentlicht in Acta Ophthalmol (2018)

Timing of cognitive decline in CLN3 disease

von Kuper, Willemijn F. E., van Alfen, Claudia, Rigterink, Roeliene H., Fuchs, Sabine A., van Genderen, Maria M., van Hasselt, Peter M.
Veröffentlicht in J Inherit Metab Dis (2018)

Electroretinogram abnormalities in non‐infectious uveitis often persist

von Brouwer, Anna H., de Wit, Gerard C., ten Dam, Ninette H., Wijnhoven, Ralph, van Genderen, Maria M., de Boer, Joke H.
Veröffentlicht in Acta Ophthalmol (2020)

The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy

von Verbakel, Sanne K., Fadaie, Zeinab, Klevering, B. Jeroen, van Genderen, Maria M., Feenstra, Ilse, Cremers, Frans P. M., Hoyng, Carel B., Roosing, Susanne
Veröffentlicht in Mol Genet Genomic Med (2019)

Ultrastructural Localization of GPR179 and the Impact of Mutant Forms on Retinal Function in CSNB1 Patients and a Mouse Model

von Klooster, Jan, van Genderen, Maria M., Yu, Minzhong, Florijn, Ralph J., Riemslag, Frans C. C., Bergen, Arthur A. B., Gregg, Ronald G., Peachey, Neal S., Kamermans, Maarten
Veröffentlicht 2013

Assessment of Night Vision Problems in Patients with Congenital Stationary Night Blindness

von Bijveld, Mieke M. C., van Genderen, Maria M., Hoeben, Frank P., Katzin, Amir A., van Nispen, Ruth M. A., Riemslag, Frans C. C., Kappers, Astrid M. L.
Veröffentlicht 2013

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

von 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
Veröffentlicht in Genes (Basel) (2018)

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

von 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
Veröffentlicht in Genes (Basel) (2018)

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1

von Al-Araimi, Musallam, Pal, Bishwanath, Poulter, James A., van Genderen, Maria M., Carr, Ian, Cudrnak, Tomas, Brown, Lawrence, Sheridan, Eamonn, Mohamed, Moin D., Bradbury, John, Ali, Manir, Inglehearn, Chris F., Toomes, Carmel
Veröffentlicht 2013

Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness

von van Genderen, Maria M., Bijveld, Mieke M.C., Claassen, Yvonne B., Florijn, Ralph J., Pearring, Jillian N., Meire, Francoise M., McCall, Maureen A., Riemslag, Frans C.C., Gregg, Ronald G., Bergen, Arthur A.B., Kamermans, Maarten
Veröffentlicht 2009

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa

von Azam, Maleeha, Khan, Muhammad Imran, Gal, Andreas, Hussain, Alamdar, Shah, Syed Tahir Abbas, Khan, Muhammad Shakil, Sadeque, Ahmed, Bokhari, Habib, Collin, Rob W.J., Orth, Ulrike, van Genderen, Maria M., den Hollander, A.I., Cremers, Frans P. M., Qamar, Raheel
Veröffentlicht 2009

A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

von Kohl, Susanne, Coppieters, Frauke, Meire, Françoise, Schaich, Simone, Roosing, Susanne, Brennenstuhl, Christina, Bolz, Sylvia, van Genderen, Maria M., Riemslag, Frans C.C., Lukowski, Robert, den Hollander, Anneke I., Cremers, Frans P.M., De Baere, Elfride, Hoyng, Carel B., Wissinger, Bernd
Veröffentlicht 2012

A clinical and molecular characterisation of CRB1-associated maculopathy

von Khan, Kamron N., Robson, Anthony, Mahroo, Omar A. R., Arno, Gavin, Inglehearn, Chris F., Armengol, Monica, Waseem, Naushin, Holder, Graham E., Carss, Keren J., Raymond, Lucy F., Webster, Andrew R., Moore, Anthony T., McKibbin, Martin, van Genderen, Maria M., Poulter, James A., Michaelides, Michel
Veröffentlicht in Eur J Hum Genet (2018)

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

von Siemiatkowska, Anna M., van den Born, L. Ingeborgh, van Genderen, Maria M., Bertelsen, Mette, Zobor, Ditta, Rohrschneider, Klaus, van Huet, Ramon A.C., Nurohmah, Siska, Klevering, B. Jeroen, Kohl, Susanne, Faradz, Sultana M.H., Rosenberg, Thomas, den Hollander, Anneke I., Collin, Rob W.J., Cremers, Frans P.M.
Veröffentlicht 2014

Visual Outcomes after Endoscopic Endonasal Transsphenoidal Resection of Pituitary Adenomas: Our Institutional Experience

von van Essen, Max J., Muskens, Ivo S., Lamba, Nayan, Belunek, Stephan F.J., van der Boog, Arthur T.J., Amelink, G. Johan, Gosselaar, Peter H., van Doormaal, Tristan P.C., Stades, Aline M.E., Verhoeff, Joost J.C., van Genderen, Maria M., Eenhorst, Christine A.E., Broekman, Marike L.D.
Veröffentlicht in J Neurol Surg B Skull Base (2021)

Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

von Littink, Karin W., Koenekoop, Robert K., van den Born, L. Ingeborgh, Collin, Rob W. J., Moruz, Luminita, Veltman, Joris A., Roosing, Susanne, Zonneveld, Marijke N., Omar, Amer, Darvish, Mahshad, Lopez, Irma, Kroes, Hester Y., van Genderen, Maria M., Hoyng, Carel B., Rohrschneider, Klaus, van Schooneveld, Mary J., Cremers, Frans P. M., den Hollander, Anneke I.
Veröffentlicht 2010

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

von Talib, Mays, van Schooneveld, Mary J., Wijnholds, Jan, van Genderen, Maria M., Schalij‐Delfos, Nicoline E., Talsma, Herman E., Florijn, Ralph J., ten Brink, Jacoline B., Cremers, Frans P.M., Thiadens, Alberta A.H.J., van den Born, L. Ingeborgh, Hoyng, Carel B., Meester‐Smoor, Magda A., Bergen, Arthur A., Boon, Camiel J.F.
Veröffentlicht in Acta Ophthalmol (2021)

Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

von Poulter, James A., Al-Araimi, Musallam, Conte, Ivan, van Genderen, Maria M., Sheridan, Eamonn, Carr, Ian M., Parry, David A., Shires, Mike, Carrella, Sabrina, Bradbury, John, Khan, Kamron, Lakeman, Phillis, Sergouniotis, Panagiotis I., Webster, Andrew R., Moore, Anthony T., Pal, Bishwanath, Mohamed, Moin D., Venkataramana, Anandula, Ramprasad, Vedam, Shetty, Rohit, Saktivel, Murugan, Kumaramanickavel, Govindasamy, Tan, Alex, Mackey, David A., Hewitt, Alex W., Banfi, Sandro, Ali, Manir, Inglehearn, Chris F., Toomes, Carmel
Veröffentlicht 2013