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prof. dr. M.M. (Mies) van Genderen

prof. dr. M.M. (Mies) van Genderen

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Research Output (53)

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort:The RD5000 Consortium

Heutinck Pam A.T., van den Born L. Ingeborgh, Vermeer Maikel, Iglesias Gonzales Adriana I., Hoyng Carel B., Pott Jan Willem R., Kroes Hester Y., van Schooneveld Mary J., Boon Camiel J.F., van Genderen Maria M., Plomp Astrid S., de Jong-Hesse Yvonne, van Egmond-Ebbeling Michelle B., Hoefsloot Lies H., A Bergen Arthur, Klaver Caroline C.W., Meester-Smoor Magda A., Thiadens Alberta A.H.J., Verhoeven Virginie J.M. 1 Aug 2024, In: Investigative ophthalmology & visual science. 65 1 p.

Diagnosis and management in Rubinstein-Taybi syndrome:first international consensus statement

Lacombe Didier, Bloch-Zupan Agnès, Bredrup Cecilie, Cooper Edward B., Houge Sofia Douzgou, García-Miñaúr Sixto, Kayserili Hülya, Larizza Lidia, Lopez Gonzalez Vanesa, Menke Leonie A., Milani Donatella, Saettini Francesco, Stevens Cathy A., Tooke Lloyd, Van Der Zee Jill A., Van Genderen Maria M., Van-Gils Julien, Waite Jane, Adrien Jean Louis, Bartsch Oliver, Bitoun Pierre, Bouts Antonia H.M., Cueto-González Anna M., Dominguez-Garrido Elena, Duijkers Floor A., Fergelot Patricia, Halstead Elizabeth, Huisman Sylvia A., Meossi Camilla, Mullins Jo, Nikkel Sarah M., Oliver Chris, Prada Elisabetta, Rei Alessandra, Riddle Ilka, Rodriguez-Fonseca Cristina, Rodríguez Pena Rebecca, Russell Janet, Saba Alicia, Santos-Simarro Fernando, Simpson Brittany N., Smith David F., Stevens Markus F., Szakszon Katalin, Taupiac Emmanuelle, Totaro Nadia, Valenzuena Palafoll Irene, Van Der Kaay Daniëlle C.M., Van Wijk Michiel P., Vyshka Klea, Wiley Susan, Hennekam Raoul C. 1 Jun 2024, In: Journal of Medical Genetics. 61 , p. 503-519 17 p.

Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A

de Muijnck Cansu, van Schooneveld Mary J., Plomp Astrid S., Rodenburg Richard J., van Genderen Maria M., Boon Camiel J.F. Jun 2024, In: American Journal of Ophthalmology Case Reports. 34

Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis

Hensman Jonathan, Hahn Leo C., van Schooneveld Mary J., Diederen Roselie M.H., ten Brink Jacoline B., Florijn Ralph J., Bergen Arthur A., Strubbe Ine, Heutinck Pam, van Genderen Maria M., van den Born L. Ingeborgh, Thiadens Alberta A., de Zaeytijd Julie, Leroy Bart P., Hoyng Carel B., Boon Camiel J.F. Jun 2024, In: Ophthalmology Retina. 8 , p. 600-606 7 p.

Reply to:Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects

Haer-Wigman Lonneke, den Ouden Amber, Derks Ronny, van Genderen Maria M., Lugtenberg Dorien, Verheij Joke, Vijzelaar Raymon, Yntema Helger G., Vissers Lisenka E.L.M., Neveling Kornelia 4 May 2024, In: npj Genomic Medicine. 9 4 p.

Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy

de Muijnck Cansu, Brink Jacoline B.ten, de Haan Hugoline G., Rodenburg Richard J., Wolf Nicole I., Bergen Arthur A., Boon Camiel J.F., van Genderen Maria M. May 2024, In: Genes. 15

Clinical and mutational characteristics of oculocutaneous albinism type 7

Kruijt C. C., de Wit G. C., van Minderhout H. M., Schalij-Delfos N. E., van Genderen M. M. 30 Mar 2024, In: Scientific Reports. 14 6 p.

Nystagmus Characteristics in Albinism:Unveiling the Link to Foveal Hypoplasia and Visual Acuity

Talsma Herman E., Kruijt Charlotte C., de Wit Gerard C., Zwerver Stefan H.L., van Genderen Maria M. 1 Dec 2023, In: Investigative ophthalmology & visual science. 64 7 p.

CRB1-Associated Retinal Dystrophy Patients Have Expanded Lewis Glycoantigen-Positive T Cells

Moekotte Lude, Kuiper Jonas J.W., Hiddingh Sanne, Nguyen Xuan Thanh An, Boon Camiel J.F., van den Born L. Ingeborgh, de Boer Joke H., van Genderen Maria M. 3 Oct 2023, In: Investigative Ophthalmology and Visual Science. 64

Visual impairment due to retinopathy of prematurity and concomitant disabilities in the Netherlands

Trzcionkowska Kasia, Termote Jacqueline U.M., van Genderen Maria M., de Vries Meindert J., van Sorge Arlette J., Schalij-Delfos Nicoline E. Jul 2023, In: Early Human Development. 182 6 p.

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