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Titel: Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype
Auteur(s): Littink, K. W., van den Born, L. I., Koenekoop, R. K., Collin, R. W. J., Zonneveld, M. N., Blokland, E. A., Khan, H., Theelen, T., Hoyng, C. B., Cremers, F. P. M., den Hollander, A. I. & Klevering, B. J.
Tijdschrift: Ophthalmology
Start- en eindpagina: 3646 - 3652

Titel: Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa
Auteur(s): Ajmal, M., Khan, M. I., Micheal, S., Ahmed, W., Shah, A., Venselaar, H., Bokhari, H., Azam, A., Waheed, N. K., Collin, R. W. J., den Hollander, A. I., Qamar, R.& Cremers, F. P. M.
Tijdschrift: Molecular Vision
Start- en eindpagina: 1226 - 1237

Titel: Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan
Auteur(s): Khan, M. I., Ajmal, M., Micheal, S., Azam, M., Hussain, A., Shahzad, A., Venselaar, H., Bokhari, H., de Wijs, I. J., Hoefsloot, L. H. M., Waheed, N. K., Collin, R. W. J., den Hollander, A. I., Qamar, R. & Cremers, F.P.M.
Tijdschrift: Clinical Genetics
Start- en eindpagina: 290 - 293

Titel: A homozygous frameshift mutation in LRAT causes retinitis punctata albescens
Auteur(s): Littink, K. W., van Genderen, M. M., van Schooneveld, M. J., Visser, L., Riemslag, F. C., Keunen, J. E. E., Bakker, B., Zonneveld, M. N., den Hollander, A. I., Cremers, F. P. M. & van den Born, L. I.
Tijdschrift: Ophthalmology
Start- en eindpagina: 0 - 0

Titel: ZNF408 is mutated in familial exudative vitreoretinopathy and crucial for the development of zebrafish retinal vasculature
Auteur(s): Collin, R. W. J., Nikopoulos, K., Dona, M., Gilissen, C., Hoischen, A., Boonstra, F. N., Poulter, J. A., Kondo, H., Berger, W., Toomes, C., Tahira, T., Mohn, L. R., Blokland, E. A., Hetterschijt, L., Ali, M., Groothuismink, J. M., Duijkers, L. E. M, Inglehearn, C. F., Sollfrank, L., Strom, T. M., Uchio, E., van Nouhuys, C. E., Kremer, H., Veltman, J. A., van Wijk, E. & Cremers, F. P. M.
Tijdschrift: Proceedings of the National Academy of Sciences USA
Start- en eindpagina: 0 - 0

Titel: IMPG2-associated retinitis pigmentosa displays early atrophic macular involvement
Auteur(s): van Huet, R. A., Collin, R. W. J., Siemiatkowska, A. M., Klaver, C. C. W., Hoyng, C. B., Simonelli, F., Khan, M. I., Qamar, R., Banin, E., Cremers, F. P. M., Theelen, T., den Hollander, A. I., van den Born, L. I., Klevering, B. J.
Tijdschrift: Investigative Ophthalmological & Visual Sciences
Start- en eindpagina: 0 - 0

Titel: Prenylation defects in inherited retinal diseases
Auteur(s): Roosing, S., Collin, R. W. J., den Hollander, A. I., Cremers, F. P. M. & Siemiatkowska, A. M.
Tijdschrift: Journal of Medical Genetics
Start- en eindpagina: 0 - 0

Titel: Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration
Auteur(s): Nishiguchi, K. M., Avila-Fernandez, A., van Huet, R. A., Corton, M., Pérez-Carro, R., Martín-Garrido, E., López-Molina, M. I., Blanco-Kelly, F., Hoefsloot, L. H., van Zelst-Stams, W. A., García-Ruiz, P. J., Val, J. D., Di Gioia, S. A., Klevering, B. J., van de Warrenburg, B. P., Vazquez, C., Cremers, F. P. M., García-Sandoval, B., Hoyng, C. B., Collin, R. W. J., Rivolta, C., Ayuso, C.
Tijdschrift: Ophthalmology
Start- en eindpagina: 0 - 0

Titel: A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
Auteur(s): Ajmal, M., Khan, M. I., Neveling, K., Khan, Y. M., Azam, M., Waheed, N. K., Hamel, C. P., Ben-Yosef, T., De Baere, E., Koenekoop, R. K., Collin, R. W. J., Qamar, R. & Cremers, F. P. M.
Tijdschrift: Journal of Medical Genetics
Start- en eindpagina: 0 - 0

Titel: Homozygosity mapping and targeted Sanger sequencing reveal genetic defects underlying inherited retinal disease in families from Pakistan.
Auteur(s): *Maria, M., *Ajmal, M., *Azam, M., Waheed, N. K., Siddiqui, S.N., Mustafa, B., Ayub, H., Ali, L., Ahmad, S., Micheal, S., Hussain, A., Abbas Shah, S. T., Benish Ali, S. H., Ahmed, W., Khan, Y. M., den Hollander, A. I., Haer-Wigman, L., Collin, R. W. J., #Khan, M. I., #Qamar, R., #Cremers, F. P. M.
Tijdschrift: PLoS ONE
Start- en eindpagina: 0 - 0

Titel: Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
Auteur(s): Bujakowska, K. M., Zhang, Q., Siemiatkowska, A. M., Liu, Q., Place, E., Falk, M. J., Consugar, M., Lancelot, M. E., Antonio, A., Lonjou, C., Carpentier, W., Mohand-Saїd, S., den Hollander, A. I., Cremers, F. P. M., Leroy, B. P., Gai, X., Sahel, J. A., van den Born, L. I., Collin, R. W. J., Zeitz, C., Audo, I., Pierce, E. A.
Tijdschrift: Human Molecular Genetics
Start- en eindpagina: 0 - 0

Titel: The molecular basis of retinal dystrophies in Pakistan
Auteur(s): Khan, M. I., Azam, M., Ajmal, M., Collin, R. W. J., den Hollander, A. I., Cremers, F. P. M. & Qamar, R.
Tijdschrift: Genes (Basel)
Start- en eindpagina: 0 - 0

Titel: Nonpenetrance of the most frequent autosomal recessive Leber congenital amaurosis mutation in NMNAT1
Auteur(s): Siemiatkowska, A. M., Schuurs-Hoeijmakers, J. H., Bosch, D. G., Boonstra, F. N., Riemslag, F. C., Ruiter, M., de Vries, B. B. A., den Hollander, A. I., Collin, R. W. J. & Cremers, F. P. M.
Tijdschrift: Jama Ophthalmology
Start- en eindpagina: 0 - 0

Titel: Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis
Auteur(s): Siemiatkowska, A. M., van den Born, L. I., van Genderen, M. M., Bertelsen, M., Zobor, D., Kohrschneider, K., van Huet, R. A. C., Nurohmah, S., Klevering, B. J., Kohl, S., Faradz, S. M. H., Rosenberg, T., den Hollander, A. I., Collin, R. W. J. & Cremers, F. P. M.
Tijdschrift: Molecular Vision
Start- en eindpagina: 0 - 0

Titel: Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment
Auteur(s): Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Seco CZ, Oonk AM, Kunst HP, Domínguez-Ruiz M, García-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H
Tijdschrift: American Journal of Human Genetics
Start- en eindpagina: 883 - 0

Titel: Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss
Auteur(s): Yariz KO, Duman D, Seco CZ, Dallman J, Huang M, Peters TA, Sirmaci A, Lu N, Schraders M, Skromne I, Oostrik J, Diaz-Horta O, Young JI, Tokgoz-Yilmaz S, Konukseven O, Shahin H, Hetterschijt L, Kanaan M, Oonk AM, Edwards YJ, Li H, Atalay S, Blanton S, Desmidt AA, Liu XZ, Pennings RJ, Lu Z, Chen ZY, Kremer H, Tekin M
Tijdschrift: The American Journal of Human Genetics
Start- en eindpagina: 872 - 0

Titel: A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment
Auteur(s): Schrauwen I, Helfmann S, Inagaki A, Predoehl F, Tabatabaiefar MA, Picher MM, Sommen M, Seco CZ, Oostrik J, Kremer H, Dheedene A, Claes C, Fransen E, Chaleshtori MH, Coucke P, Lee A, Moser T, Van Camp G
Tijdschrift: The American Journal of Human Genetics
Start- en eindpagina: 636 - 0

Titel: Clinical aspects of an autosomal dominantly inherited hearing impairment linked to the DFNA60 locus on chromosome 2q23.1-2q23.3
Auteur(s): van Beelen E, Schraders M, Huygen PL, Oostrik J, Plantinga RF, van Drunen W, Collin RW, Kooper DP, Pennings RJ, Cremers CW, Kremer H, Kunst HP
Tijdschrift: Hearing Research
Start- en eindpagina: 10 - 0

Titel: Next generation genetic testing for retinitis pigmentosa
Auteur(s): Neveling, K., Collin, R. W. J., Gilissen, C., van Huet, R. A. C., Visser, L., Kwint, M. P., Gijsen, S. J., Zonneveld, M. N., Wieskamp, N., de, L. J., Siemiatkowska, A. M., Hoefsloot, L. H., Buckley, M. F., Kellner, U., Branham, K. E., Hollander, A. I., Hoischen, A., Hoyng, C., Klevering, B. J., van den Born, L. I., Veltman, J. A., Cremers, F. P. M. & Scheffer, H.
Tijdschrift: Human Mutation
Start- en eindpagina: 963 - 972

Titel: Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa
Auteur(s): Ozgül, R. K., Siemiatkowska, A. M., Yucel, D., Myers, C. A., Collin, R. W. J., Zonneveld, M. N., Beryozkin, A., Banin, E., Hoyng, C. B., van den Born, L. I., Bose, R., Shen, W., Sharon, D., Cremers, F. P. M., Klevering, B. J., den Hollander, A. I. & Corbo, J. C.
Tijdschrift: American Journal of Human Genetics
Start- en eindpagina: 253 - 264

Titel: Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa
Auteur(s): Bandah-Rozenfeld, D., Collin, R. W. J., Banin, E., van den Born, L. I., Coene, K. L. M., Siemiatkowska, A. M., Zelinger, L., Khan, M. I., Lefeber, D. J., Erdinest, I., Testa, F., Simonelli, F., Voesenek, K., Blokland, E. A. W., Strom, T. M., Klaver, C. C. W., Qamar, R., Banfi, S., Cremers, F. P. M., Sharon, D. & den Hollander, A. I.
Tijdschrift: American Journal of Human Genetics
Start- en eindpagina: 199 - 208

Titel: Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement
Auteur(s): Alejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, Eyal Banin, Ygal Rotenstreich, Dror Sharon, Tzipora C. Falik-Zaccai, Stephanie Hipp, Ronald Roepman, Bernd Wissinger, Stef J.F. Letteboer, Dorus A. Mans, Ellen A.W. Blokland, Michael P. Kwint, Sabine J. Gijsen, Ramon A.C. van Huet, Rob W.J. Collin, H. Scheffer, Joris A. Veltman, Eberhart Zrenner, the European Retinal Disease Consortium, Anneke I. den Hollander, B. Jeroen Klevering, Frans P.M. Cremers
Tijdschrift: American Journal of Human Genetics
Start- en eindpagina: 102 - 109

Titel: Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family
Auteur(s): Siemiatkowska, A. M., Astuti, G. D., Arimadyo, K., den Hollander, A. I., Faradz, S. M., Cremers, F. P. M. & Collin, R. W. J.
Tijdschrift: Molecular Vision
Start- en eindpagina: 2411 - 2419

Titel: A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen
Auteur(s): Paun, C. C., Pijl, B. J., Siemiatkowska, A. M., Collin, R. W. J., Cremers, F. P. M., Hoyng, C. B. & den Hollander, A. I.
Tijdschrift: Molecular Vision
Start- en eindpagina: 2447 - 2453

Titel: Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype
Auteur(s): Liu, Q., Collin, R. W. J., Cremers, F. P. M., den Hollander, A. I., van den Born, L. I. & Pierce, E. A.
Tijdschrift: PLoS ONE
Start- en eindpagina: 0 - 0

Titel: BBS1 mutations underlie a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome
Auteur(s): Estrada-Cuzcano, A., Koenekoop, R. K., Sénéchal, A., De Baere, E. B. W., de Ravel, T., Banfi, S., Kohl, S., Ayuso, C., Sharon, D., Hoyng, C. B., Hamel, C. P., Leroy, B. P., Ziviello, C., Lopez, I., Bazinet, A., Wissinger, B., Sliesoraityte, L., Avila-Fernandez, A., Littink, K.W., Vingolo, E. M., Signorini, S. Banin, E., Mizrahi-Meissonnier, L., Zrenner, E., Kellner, U., Collin, R. W. J., den Hollander, A. I., Cremers, F. P. M. & Klevering, B. J.
Tijdschrift: Archives of Internal Medicine
Start- en eindpagina: 1425 - 1532

Titel: Antisense oligonucleotide (AON)-based therapy for Leber Congenital Amaurosis caused by a frequent mutation in CEP290
Auteur(s): Collin, R. W. J., den Hollander, A. I., van der Velde-Visser, S., Bennicelli, J., Bennett, J. & Cremers, F. P. M.
Tijdschrift: Molecular Therapy Nucleic Acids
Start- en eindpagina: 0 - 0

Titel: A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia
Auteur(s): Kohl, S., Coppieters, F., Meire, F., Schaich, S., Roosing, S., Brennenstuhl, C., Bolz, S., van Genderen, M. M., Riemslag, F. C.; the European Retinal Disease Consortium (Ayuso, C., Banfi, S., Banin, E., Sharon, D., Ben-Yosef, T., Collin, R. W. J., Hamel, C., Inglehearn, C., Toomes, C., Koenekoop, R. K., Lopez, I., Leroy, B. P.), Lukowski, R., den Hollander, A. I., Cremers, F. P. M., De Baere, E., Hoyng, C. B. & Wissinger, B.
Tijdschrift: American Journal of Human Genetics
Start- en eindpagina: 527 - 532

Titel: Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome
Auteur(s): Ajmal, M., Khan, M. I., Neveling, K., Tayyab, A., Jaffar, S., Sadeque, A., Ayub, H., Abbasi, N. M., Riaz, M, Micheal, S., Gilissen, C., Benish Ali, S. H., Azam, M., Collin, R. W. J., Cremers, F. P. M. & Qamar, R.
Tijdschrift: Molecular Vision
Start- en eindpagina: 644 - 653

Titel: Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations
Auteur(s): Mackay, D. S., Dev Borman, A., Sui, R., van den Born, L. I., Berson, E. L., Ocaka, L. A., Davidson, A. E., Heckenlively, J. R., Branham, K., Ren, H., Lopez, I., Maria, M., Azam, M., Henkes, A., Blokland. E.; [LCA5 Study Group: Andreasson, S., de Baere, E., Bennett, J., Chader, G. J., Berger, W., Golovleva, I., Greenberg, J., den Hollander, A. I., Klaver, C. C. W., Klevering, B. J., Lorenz, B., Preising, M. N., Ramesar, R., Roberts, L., Roepman, R., Rohrschneider, K., Wissinger, B.], Qamar, R., Webster, A. R., Cremers, F. P. M., Moore, A. T. & Koenekoop, R. K.
Tijdschrift: Human Mutation
Start- en eindpagina: 1537 - 1547

Titel: Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction
Auteur(s): Roosing, S., van den Born, L. I., Hoyng, C. B., Thiadens, A. A. H. J., de Baere, E., Collin, R. W. J., Koenekoop, R. K., Leroy, B. P., van Moll-Ramirez, N., Venselaar, H., Riemslag, F. C., Cremers, F. P. M., Klaver, C. C. W. & den Hollander, A. I.
Tijdschrift: Ophthalmology
Start- en eindpagina: 1239 - 1246

Titel: Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa
Auteur(s): Siemiatkowska, A. M., van den Born, L. I., van Hagen, M. P., Stoffels, M., Neveling, K., Henkes, A., Kipping-Geertsema, M., Hoefsloot, L. H., Hoyng, C. B., Simon, A., den Hollander, A. I., Cremers, F. P. M. & Collin, R. W. J.
Tijdschrift: Ophthalmology
Start- en eindpagina: 0 - 0

Titel: Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement
Auteur(s): Alejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, Eyal Banin, Ygal Rotenstreich, Dror Sharon, Tzipora C. Falik-Zaccai, Stephanie Hipp, Ronald Roepman, Bernd Wissinger, Stef J.F. Letteboer, Dorus A. Mans, Ellen A.W. Blokland, Michael P. Kwint, Sabine J. Gijsen, Ramon A.C. van Huet, Rob W.J. Collin, H. Scheffer, Joris A. Veltman, Eberhart Zrenner, the European Retinal Disease Consortium, Anneke I. den Hollander, B. Jeroen Klevering, and Frans P.M. Cremers
Start- en eindpagina: 91 - 109

Titel: Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping
Auteur(s): Siemiatkowska, A. M., Arimadyo, K., Moruz, L. M., Astuti, G. D., de Castro-Miro, M., Zonneveld, M. N., Strom, T. M., de Wijs, I. J., Hoefsloot, L. H., Faradz, S. M., Cremers, F. P. M., den Hollander, A. I., Collin, R. W. J.
Tijdschrift: Molecular Vision
Start- en eindpagina: 3013 - 3024

Titel: Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia
Auteur(s): Azam, M., Collin, R. W. J., Shah, S. T., Shah, A. A., Khan, M. I., Hussain, A., Sadeque, A., Strom, T. M., Thiadens, A. A. H. J., Roosing, S., den Hollander, A. I., Cremers, F. P. M. & Qamar R.
Tijdschrift: Molecular Vision
Start- en eindpagina: 774 - 781

Titel: Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human
Auteur(s): Charizopoulou N, Lelli A, Schraders M, Ray K, Hildebrand MS, Ramesh A, Srisailapathy CR, Oostrik J, Admiraal RJ, Neely HR, Latoche JR, Smith RJ, Northup JK, Kremer H, Holt JR, Noben-Trauth K
Tijdschrift: Nature Communications
Start- en eindpagina: 201 - 0

Titel: Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment
Auteur(s): Schraders M, Haas SA, Weegerink NJ, Oostrik J, Hu H, Hoefsloot LH, Kannan S, Huygen PL, Pennings RJ, Admiraal RJ, Kalscheuer VM, Kunst HP, Kremer H
Tijdschrift: American Journal of Human Genetics
Start- en eindpagina: 628 - 634

Titel: Variable degrees of hearing impairment in a Dutch DFNX4
Auteur(s): Weegerink NJ, Huygen PL, Schraders M, Kremer H, Pennings RJ, Kunst HP
Tijdschrift: Hearing Research
Start- en eindpagina: 167 - 177

Titel: Genotype-Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations
Auteur(s): Weegerink NJ, Schraders M, Oostrik J, Huygen PL, Strom TM, Granneman S, Pennings RJ, Venselaar H, Hoefsloot LH, Elting M, Cremers CW, Admiraal RJ, Kremer H, Kunst HP
Tijdschrift: Journal of the Association for Research in Otolaryngology
Start- en eindpagina: 753 - 766

Titel: Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa
Auteur(s): Khan, M. I., Collin, R. W. J., Arimadyo, K., Micheal, S., Azam, M., Qureshi, N., Faradz, S. M., den Hollander, A. I., Qamar, R. & Cremers, F. P. M.
Tijdschrift: Molecular Vision
Start- en eindpagina: 2753 - 2759

Titel: High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative for autosomal recessive RP in the Dutch population
Auteur(s): Collin, R. W. J., van den Born, L. I., Klevering, B. J., de Castro Miro, M., Littink, K. W., Arimadyo-Sulakso, K., Azam, M., Yazar, V., Zonneveld-Vrieling, M. N., Strom, T. M., Paun, C. C., Siemiatkowska, A. M., Hehir-Kwa, J. Y., Kroes, H. Y., de Faber, J.-T. H. N., van Schoonefeld, M., Heckenlively, J., Hoyng, C. B., den Hollander, A. I., Cremers, F. P. M.
Tijdschrift: Investigative Ophthalmological & Visual Sciences
Start- en eindpagina: 2227 - 2239

Titel: Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population
Auteur(s): Bandah-Rozenfeld, D., Littink, K. W., Ben-Yosef, T., Strom, T. M., Chowers, I., Collin, R. W. J., den Hollander, A. I., van den Born, L. I., Zonneveld, M. N., Merin, S., Banin, E., Cremers, F. P. M. & Sharon, D.
Tijdschrift: Investigative Ophthalmology and Visual Science
Start- en eindpagina: 4387 - 4394

Titel: Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations
Auteur(s): Littink, K. W., Koenekoop, R. K., van den Born, L. I., Collin, R. W. J., Moruz, L., Veltman, J. A., Roosing, S., Zonneveld, M. N., Omar, A., Darvish, M., Lopez, I., Kroes, H. Y., van Genderen, M. M., Hoyng, C. B., Rohrschneider, K., van Schooneveld, M. J., Cremers, F. P. M. & den Hollander, A. I.
Tijdschrift: Investigative Ophthalmology and Visual Science
Start- en eindpagina: 5943 - 5951

Titel: The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
Auteur(s): Peluso, I., Conte, I., Testa, F., Dharmalingam, G., Pizzo, M., Collin, R. W. J., Meola, N., Barbato, S., Mutarelli, M., Ziviello, C., Barbarulo, A. M., Nigro, V., Melone, M. A.; European Retinal Disease Consortium [De Baere, E., Koenekoop, R. K., Leroy, B. P., Cremers, F. P. M., Kohl, S., Hamel, C., Ayuso, C., Wissinger, B., Inglehearn, C., Toomes, C., den Hollander, A. I.], Simonelli, F. & Banfi, S.
Tijdschrift: Orphanet Journal of Rare Diseases
Start- en eindpagina: 0 - 0

Titel: The power of homozygosity mapping: discovery of new genetic defects in patients with retinal dystrophy
Auteur(s): Littink, K. W., den Hollander, A. I., Cremers, F. P. M. & Collin, R. W. J.
Tijdschrift: Advances in Experimental Medicine and Biology
Start- en eindpagina: 345 - 351

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Titel: Advances in Experimental Medicine and Biology
Auteur(s): Littink, K. W., den Hollander, A. I., Cremers, F. P. M. & Collin, R. W. J.
Start- en eindpagina: 345 - 351

Titel: Methods in Molecular Biology 935
Auteur(s): Neveling, K., den Hollander, A. I., Cremers, F. P. M. & Collin, R. W. J.
Start- en eindpagina: 3 - 23

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