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EMBO molecular medicine, 2023-10, Vol.15 (10), p.e17393-e17393
2023
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Archives of disease in childhood, 2015-03, Vol.100 (3), p.271-278
2015
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American journal of medical genetics. Part A, 2011-06, Vol.155A (6), p.1298-1313
- Rendtorff, Nanna D.
- Lodahl, Marianne
- Boulahbel, Houda
- Johansen, Ida R.
- Pandya, Arti
- Welch, Katherine O.
- Norris, Virginia W.
- Arnos, Kathleen S.
- Bitner-Glindzicz, Maria
- Emery, Sarah B.
- Mets, Marilyn B.
- Fagerheim, Toril
- Eriksson, Kristina
- Hansen, Lars
- Bruhn, Helene
- Möller, Claes
- Lindholm, Sture
- Ensgaard, Stefan
- Lesperance, Marci M.
- Tranebjaerg, Lisbeth
2011
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Human reproduction (Oxford), 2006-10, Vol.21 (10), p.2467-2473
2006
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Human mutation, 2016-08, Vol.37 (8), p.812-819
- Sommen, Manou
- Schrauwen, Isabelle
- Vandeweyer, Geert
- Boeckx, Nele
- Corneveaux, Jason J.
- van den Ende, Jenneke
- Boudewyns, An
- De Leenheer, Els
- Janssens, Sandra
- Claes, Kathleen
- Verstreken, Margriet
- Strenzke, Nicola
- Predöhl, Friederike
- Wuyts, Wim
- Mortier, Geert
- Bitner-Glindzicz, Maria
- Moser, Tobias
- Coucke, Paul
- Huentelman, Matthew J.
- Van Camp, Guy
2016
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Human molecular genetics, 2018-06, Vol.27 (11), p.1927-1940
2018
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The New England journal of medicine, 2009-02, Vol.360 (6), p.640-642
2009
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Journal of medical genetics, 2012-01, Vol.49 (1), p.27-36
2012
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American journal of human genetics, 2014-11, Vol.95 (5), p.611-621
- Thomas, Anna C.
- Williams, Hywel
- Setó-Salvia, Núria
- Bacchelli, Chiara
- Jenkins, Dagan
- O’Sullivan, Mary
- Mengrelis, Konstantinos
- Ishida, Miho
- Ocaka, Louise
- Chanudet, Estelle
- James, Chela
- Lescai, Francesco
- Anderson, Glenn
- Morrogh, Deborah
- Ryten, Mina
- Duncan, Andrew J.
- Pai, Yun Jin
- Saraiva, Jorge M.
- Ramos, Fabiana
- Farren, Bernadette
- Saunders, Dawn
- Vernay, Bertrand
- Gissen, Paul
- Straatmaan-Iwanowska, Anna
- Baas, Frank
- Wood, Nicholas W.
- Hersheson, Joshua
- Houlden, Henry
- Hurst, Jane
- Scott, Richard
- Bitner-Glindzicz, Maria
- Moore, Gudrun E.
- Sousa, Sérgio B.
- Stanier, Philip
2014
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American journal of human genetics, 2009-05, Vol.84 (5), p.558-566
2009
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American journal of human genetics, 2005-12, Vol.77 (6), p.945-957
- Snoeckx, Rikkert L.
- Huygen, Patrick L.M.
- Feldmann, Delphine
- Marlin, Sandrine
- Denoyelle, Françoise
- Waligora, Jaroslaw
- Mueller-Malesinska, Malgorzata
- Pollak, Agneszka
- Ploski, Rafal
- Murgia, Alessandra
- Orzan, Eva
- Castorina, Pierangela
- Ambrosetti, Umberto
- Nowakowska-Szyrwinska, Ewa
- Bal, Jerzy
- Wiszniewski, Wojciech
- Janecke, Andreas R.
- Nekahm-Heis, Doris
- Seeman, Pavel
- Bendova, Olga
- Kenna, Margaret A.
- Frangulov, Anna
- Rehm, Heidi L.
- Tekin, Mustafa
- Incesulu, Armagan
- Dahl, Hans-Henrik M.
- du Sart, Desirée
- Jenkins, Lucy
- Lucas, Deirdre
- Bitner-Glindzicz, Maria
- Avraham, Karen B.
- Brownstein, Zippora
- del Castillo, Ignacio
- Moreno, Felipe
- Blin, Nikolaus
- Pfister, Markus
- Sziklai, Istvan
- Toth, Timea
- Kelley, Philip M.
- Cohn, Edward S.
- Van Maldergem, Lionel
- Hilbert, Pascale
- Roux, Anne-Françoise
- Mondain, Michel
- Hoefsloot, Lies H.
- Cremers, Cor W.R.J.
- Löppönen, Tuija
- Löppönen, Heikki
- Parving, Agnete
- Gronskov, Karen
- Schrijver, Iris
- Roberson, Joseph
- Gualandi, Francesca
- Martini, Alessandro
- Lina-Granade, Geneviève
- Pallares-Ruiz, Nathalie
- Correia, Céu
- Fialho, Graça
- Cryns, Kim
- Hilgert, Nele
- Van de Heyning, Paul
- Nishimura, Carla J.
- Smith, Richard J.H.
- Van Camp, Guy
2005
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American journal of human genetics, 2010, Vol.86 (1), p.65-71
2010
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Ophthalmology (Rochester, Minn.), 2016-07, Vol.123 (7), p.1624-1626
- Majander, Anna, MD, PhD
- Bitner-Glindzicz, Maria, PhD, FRCP
- Chan, Choi M., MB, FRCOphth
- Duncan, Holly J., MBChB
- Chinnery, Patrick F., PhD, FRCP
- Subash, Malavika, MB, FRCOphth
- Keane, Pearse A., MD, FRCOphth
- Webster, Andrew R., MD, FRCOphth
- Moore, Anthony T., MD, FRCOphth
- Michaelides, Michel, MD, FRCOphth
- Yu-Wai-Man, Patrick, PhD, FRCOphth
2016
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Genes, 2019-07, Vol.10 (7), p.529
2019
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Natural History and Retinal Structure in Patients with Usher Syndrome Type 1 Owing to MYO7A Mutation
2014
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American journal of human genetics, 2001-01, Vol.68 (1), p.26-37
- Bork, Julie M.
- Peters, Linda M.
- Riazuddin, Saima
- Bernstein, Steve L.
- Ahmed, Zubair M.
- Ness, Seth L.
- Polomeno, Robert
- Ramesh, Arabandi
- Schloss, Melvin
- Srisailpathy, C. R. Srikumari
- Wayne, Sigrid
- Bellman, Susan
- Desmukh, Dilip
- Ahmed, Zahoor
- Khan, Shaheen N.
- Kaloustian, Vazken M. Der
- Li, X. Cindy
- Lalwani, Anil
- Riazuddin, Sheikh
- Bitner-Glindzicz, Maria
- Nance, Walter E.
- Liu, Xue-Zhong
- Wistow, Graeme
- Smith, Richard J.H.
- Griffith, Andrew J.
- Wilcox, Edward R.
- Friedman, Thomas B.
- Morell, Robert J.
2001
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European journal of endocrinology, 2015-02, Vol.172 (2), p.217
2015
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Journal of evaluation in clinical practice, 2010-08, Vol.16 (4), p.811-817
2010
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JCI insight, 2022-02, Vol.7 (3)
2022
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Journal of medical genetics, 2007-02, Vol.44 (2), p.153-160
- Cremers, Frans P M
- Kimberling, William J
- Külm, Maigi
- de Brouwer, Arjan P
- van Wijk, Erwin
- te Brinke, Heleen
- Cremers, Cor W R J
- Hoefsloot, Lies H
- Banfi, Sandro
- Simonelli, Francesca
- Fleischhauer, Johannes C
- Berger, Wolfgang
- Kelley, Phil M
- Haralambous, Elene
- Bitner-Glindzicz, Maria
- Webster, Andrew R
- Saihan, Zubin
- De Baere, Elfride
- Leroy, Bart P
- Silvestri, Giuliana
- McKay, Gareth J
- Koenekoop, Robert K
- Millan, Jose M
- Rosenberg, Thomas
- Joensuu, Tarja
- Sankila, Eeva-Marja
- Weil, Dominique
- Weston, Mike D
- Wissinger, Bernd
- Kremer, Hannie
2007
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American journal of human genetics, 2017-01, Vol.100 (1), p.75-90
- Stephens, Jonathan
- Dewhurst, Eleanor
- Malka, Samantha
- Plagnol, Vincent
- Rizzo, Roberta
- Scott, Richard H.
- Henderson, Robert H.H.
- MacLaren, Robert E.
- Paterson, Joan
- Aitman, Timothy
- Ali, Sonia
- Ambegaonkar, Gautum
- Arno, Gavin
- Astle, William
- Attwood, Antony
- Bennett, David
- Bitner-Glindzicz, Maria
- Bleda, Marta
- Boggard, Harm
- Carss, Keren
- Clements-Brod, Naomi
- DaCosta, Rosa
- De Vries, Minka
- Drewe, Elizabeth
- Egner, William
- Erber, Wendy N.
- Everington, Tamara
- Fletcher, Debra
- Freson, Kathleen
- Gale, Daniel
- Ghali, Neeti
- Ghurye, Rohit
- Gräf, Stefan
- Greene, Daniel
- Grigoriadou, Sofia
- Grozeva, Detelina
- Hackett, Scott
- Hadinnapola, Charaka
- Hague, Rosie
- Hammerton, Tracey
- Heemskerk, Johan W.M.
- Holder, Muriel
- Holder, Susan
- Huissoon, Aarnoud
- Hurst, Jane
- Jolles, Stephen
- Keeling, David
- Kennedy, Fiona
- Kiely, David
- Lawrie, Allan
- Lear, Sara
- Lees, Melissa
- Lentaigne, Claire
- Lorenzo, Lorena
- Mangles, Sarah
- Mapeta, Rutendo
- Masati, Larahmie
- Mathias, Mary
- Michaelides, Michel
- Millar, Carolyn M.
- Moledina, Shahin
- Moore, Anthony
- Murng, Sai
- Oksenhendler, Eric
- Park, Soo-Mi
- Patch, Chris
- Penkett, Christopher J.
- Pepke-Zaba, Joanna
- Pollock, Val
- Qasim, Waseem
- Quinti, Isabella
- Reid, Evan
- Rondina, Matthew
- Rosser, Elisabeth
- Santra, Saikat
- Sargur, Ravishankar
- Savic, Sinisa
- Scully, Marie
- Sewell, Carrock
- Smith, Kenneth
- Southgate, Laura
- Stauss, Hans
- Stein, Penelope
- Talks, Kate
- Thomas, Ellen
- Thrasher, Adrian
- Tischkowitz, Marc
- Titterton, Catherine
- Turro, Ernest
- von Ziegenweldt, Julie
- Vonk Noordegraaf, Anton
- Wakeling, Emma
- Wanjiku, Ivy
- Welch, Steve
- Westbury, Sarah
- Woods, Geoffrey
- Yong, Patrick
- Webster, Andrew R.
2017
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International journal of audiology, 2013-02, Vol.52 (2), p.124-133
2013
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Human mutation, 2009-02, Vol.30 (2), p.248-254
2009
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American journal of human genetics, 2018-01, Vol.102 (1), p.175-187
- Faundes, Víctor
- Demos, Michelle K.
- Goldman, Amy
- Lehman, Anna
- McKee, Shane
- Morton, Jenny
- Rankin, Julia
- Temple, I. Karen
- Adam, Shelin
- van Karnebeek, Clara
- Aitken, Stuart
- Alvi, Mohsan
- Ambridge, Kirsty
- Jones, Philip
- Jones, Wendy D.
- Mason, Laura E.
- Tivey, Adrian R.
- Ahmed, Munaza
- Balasubramanian, Meena
- Barnicoat, Angela
- Bitner-Glindzicz, Maria
- Bourdon, Louise
- Bradley, Lisa
- Burn, John
- Colgiu, Irina
- Collins, Amanda
- Collinson, Morag N.
- Connell, Fiona
- Crow, Yanick
- Dabir, Tabib
- Davidson, Rosemarie
- de Vries, Dylan
- Deshpande, Charu
- Dixit, Abhijit
- Dobbie, Angus
- Douzgou, Sofia
- Duncan, Alexis
- Eason, Jacqueline
- Ellard, Sian
- Elmslie, Frances
- Evans, Karenza
- Everest, Sarah
- Flinter, Frances
- Foulds, Nicola
- Ghali, Neeti
- Gibbons, Richard
- Gill, Harinder
- Greene, Philip
- Gribble, Susan
- Holder, Muriel
- Hollingsworth, Georgina
- Ingram, Stuart
- Jenkins, Lucy
- Joss, Shelagh
- Kerr, Bronwyn
- Kini, Usha
- Kraus, Alison
- Lachlan, Katherine
- Marks, Karen
- McConnell, Vivienne
- McEntagart, Meriel
- McGowan, Ruth
- Middleton, Anna
- Mohammed, Shehla
- O’Shea, Rosie
- Ogilvie, Caroline
- Ong, Kai-Ren
- Parker, Michael J.
- Patel, Chirag
- Paterson, Joan
- Payne, Stewart
- Prescott, Katrina
- Procter, Annie
- Purnell, Hellen
- Randall, Josh
- Raymond, Lucy
- Rice, Debbie
- Robert, Leema
- Samant, Shalaka
- Selby, Ann
- Sequeira, Cheryl
- Shears, Debbie
- Smith, Audrey
- Smith, Kath
- Splitt, Miranda
- Squires, Miranda
- Tomkins, Susan
- Treacy, Becky
- Tysoe, Carolyn
- Vasudevan, Pradeep
- Vijayarangakannan, Parthiban
- Vogt, Julie
- Wakeling, Emma
- Whiteford, Margo
- Wilcox, Sarah
- Wilkinson, Emily
- Firth, Helen V.
- Wright, Caroline F.
- FitzPatrick, David R.
2018
Link zum Volltext
Circulation (New York, N.Y.), 2017-11, Vol.136 (21), p.2022-2033
- Hadinnapola, Charaka
- Bleda, Marta
- Haimel, Matthias
- Screaton, Nicholas
- Swift, Andrew
- Dorfmüller, Peter
- Preston, Stephen D
- Southwood, Mark
- Hernandez-Sanchez, Jules
- Martin, Jennifer
- Treacy, Carmen
- Yates, Katherine
- Bogaard, Harm
- Church, Colin
- Coghlan, Gerry
- Condliffe, Robin
- Corris, Paul A
- Gibbs, Simon
- Girerd, Barbara
- Holden, Simon
- Humbert, Marc
- Kiely, David G
- Lawrie, Allan
- Machado, Rajiv
- MacKenzie Ross, Robert
- Moledina, Shahin
- Montani, David
- Newnham, Michael
- Peacock, Andrew
- Pepke-Zaba, Joanna
- Rayner-Matthews, Paula
- Shamardina, Olga
- Soubrier, Florent
- Southgate, Laura
- Suntharalingam, Jay
- Toshner, Mark
- Trembath, Richard
- Vonk Noordegraaf, Anton
- Wilkins, Martin R
- Wort, Stephen J
- Wharton, John
- Gräf, Stefan
- Morrell, Nicholas W
2017
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