Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa von Dvaladze, Anna, Tavares, Erika, Di Scipio, Matteo, Nimmo, Graeme, Grudzinska‐Pechhacker, Monika K., Paton, Tara, Tumber, Anupreet, Li, Shuning, Eileen, Christabel, Ertl‐Wagner, Birgit, Mamak, Eva, Hoffmann, Georg, Marshall, Christian R., Haas, Dorothea, Mayatepek, Ertan, Schulze, Andreas, Heon, Elise, Vincent, Ajoy

Volltext

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10 von Grudzinska Pechhacker, Monika K, Jacobson, Samuel G, Drack, Arlene V, Scipio, Matteo Di, Strubbe, Ine, Pfeifer, Wanda, Duncan, Jacque L, Dollfus, Helene, Goetz, Nathalie, Muller, Jean, Vincent, Andrea L, Aleman, Tomas S, Tumber, Anupreet, Van Cauwenbergh, Caroline, De Baere, Elfride, Bedoukian, Emma, Leroy, Bart P, Maynes, Jason T, Munier, Francis L, Tavares, Erika, Saleh, Eman, Vincent, Ajoy, Heon, Elise

Volltext

Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1 von Pechhacker, MKG, Molnar, A, Pacheco, NP, Thonberg, H, Querat, L, Birkeldh, U, Nordgren, A, Lindstrand, A

Volltext

FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy von Grudzinska Pechhacker, Monika K., Yoon, Grace, Hazrati, Lili-Naz, Maynes, Jason, MacDonald, Heather, Tavares, Erika, Vincent, Ajoy, Heon, Elise

Volltext

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations von Dollfus, Hélène, Lilien, Marc R., Maffei, Pietro, Verloes, Alain, Muller, Jean, Bacci, Giacomo M., Cetiner, Metin, van den Akker, Erica L. T., Grudzinska Pechhacker, Monika, Testa, Francesco, Lacombe, Didier, Stokman, Marijn F., Simonelli, Francesca, Gouronc, Aurélie, Gavard, Amélie, van Haelst, Mieke M., Koenig, Jens, Rossignol, Sylvie, Bergmann, Carsten, Zacchia, Miriam, Leroy, Bart P., Mosbah, Héléna, Van Eerde, Albertien M., Mekahli, Djalila, Servais, Aude, Poitou, Christine, Valverde, Diana

Volltext

Optic Atrophy and Inner Retinal Thinning in CACNA1F -related Congenital Stationary Night Blindness von Leahy, Kate E, Wright, Tom, Grudzinska Pechhacker, Monika K, Audo, Isabelle, Tumber, Anupreet, Tavares, Erika, MacDonald, Heather, Locke, Jeff, VandenHoven, Cynthia, Zeitz, Christina, Heon, Elise, Buncic, J Raymond, Vincent, Ajoy

Volltext

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations von Dollfus, Helene, Lilien, Marc R, Maffei, Pietro, Verloes, Alain, Muller, Jean, Bacci, Giacomo M, Cetiner, Metin, van den Akker, Erica L.T, Pechhacker, Monika Grudzinska, Testa, Francesco, Lacombe, Didier, Stokman, Marijn F, Simonelli, Francesca, Gouronc, Aurelie, Gavard, Amelie, van Haelst, Mieke M, Koenig, Jens, Rossignol, Sylvie, Bergmann, Carsten, Zacchia, Miriam, Leroy, Bart P, Mosbah, Helena, Van Eerde, Albertien M, Mekahli, Djalila, Servais, Aude, Poitou, Christine, Valverde, Diana

Volltext

Unilateral cataract and congenital stationary night blindness in a child with novel variants in TRPM1 von Saleh, Eman, Pechhacker, Monika Grudzinska, Vig, Anjali, Mehta, Maanik, Maynes, Jason, Tumber, Anupreet, Tavares, Erika, Vincent, Ajoy, Mireskandari, Kamiar, Heon, Elise

Volltext

Comparative natural history of visual function from patients with biallelic variants in BBS1 and BBS10 von Pechhacker, Monika K. Grudzinska, Jacobson, Samuel G, Drack, Arlene, V, Di Scipio, Matteo, Strubbe, Ine, Pfeifer, Wanda, Duncan, Jacque L, Dollfus, Helene, Goetz, Nathalie, Muller, Jean, Vincent, Andrea L, Aleman, Tomas S, Tumber, Anupreet, Van Cauwenbergh, Caroline, De Baere, Elfride, Bedoukian, Emma, Leroy, Bart, Maynes, Jason T, Munier, Francis L, Tavares, Erika, Saleh, Eman, Vincent, Ajoy, Heon, Elise

Volltext