Etiology
Sun T,
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Invest Ophthalmol Vis Sci
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Kim SY,
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Snoeckx RL,
Huygen PL,
Feldmann D,
Marlin S,
Denoyelle F,
Waligora J,
Mueller-Malesinska M,
Pollak A,
Ploski R,
Murgia A,
Orzan E,
Castorina P,
Ambrosetti U,
Nowakowska-Szyrwinska E,
Bal J,
Wiszniewski W,
Janecke AR,
Nekahm-Heis D,
Seeman P,
Bendova O,
Kenna MA,
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Tekin M,
Incesulu A,
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Brownstein Z,
del Castillo I,
Moreno F,
Blin N,
Pfister M,
Sziklai I,
Toth T,
Kelley PM,
Cohn ES,
Van Maldergem L,
Hilbert P,
Roux AF,
Mondain M,
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Cremers CW,
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Parving A,
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Gualandi F,
Martini A,
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Diagnosis
Sun T,
Xu K,
Ren Y,
Xie Y,
Zhang X,
Tian L,
Li Y
Invest Ophthalmol Vis Sci
2018 Mar 1;59(3):1229-1237.
doi: 10.1167/iovs.17-23312.
PMID: 29625443
Snoeckx RL,
Huygen PL,
Feldmann D,
Marlin S,
Denoyelle F,
Waligora J,
Mueller-Malesinska M,
Pollak A,
Ploski R,
Murgia A,
Orzan E,
Castorina P,
Ambrosetti U,
Nowakowska-Szyrwinska E,
Bal J,
Wiszniewski W,
Janecke AR,
Nekahm-Heis D,
Seeman P,
Bendova O,
Kenna MA,
Frangulov A,
Rehm HL,
Tekin M,
Incesulu A,
Dahl HH,
du Sart D,
Jenkins L,
Lucas D,
Bitner-Glindzicz M,
Avraham KB,
Brownstein Z,
del Castillo I,
Moreno F,
Blin N,
Pfister M,
Sziklai I,
Toth T,
Kelley PM,
Cohn ES,
Van Maldergem L,
Hilbert P,
Roux AF,
Mondain M,
Hoefsloot LH,
Cremers CW,
Löppönen T,
Löppönen H,
Parving A,
Gronskov K,
Schrijver I,
Roberson J,
Gualandi F,
Martini A,
Lina-Granade G,
Pallares-Ruiz N,
Correia C,
Fialho G,
Cryns K,
Hilgert N,
Van de Heyning P,
Nishimura CJ,
Smith RJ,
Van Camp G
Am J Hum Genet
2005 Dec;77(6):945-57.
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Zeviani M,
Tiranti V,
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Medicine (Baltimore)
1998 Jan;77(1):59-72.
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Prognosis
Minami SB,
Mutai H,
Namba K,
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Auris Nasus Larynx
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Kim SY,
Kim AR,
Han KH,
Kim MY,
Jeon EH,
Koo JW,
Oh SH,
Choi BY
PLoS One
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Clinical prediction guides
Minami SB,
Mutai H,
Namba K,
Sakamoto H,
Matsunaga T
Auris Nasus Larynx
2016 Dec;43(6):609-13.
Epub 2016 Mar 10
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PMID: 26973026
Kim SY,
Kim AR,
Han KH,
Kim MY,
Jeon EH,
Koo JW,
Oh SH,
Choi BY
PLoS One
2015;10(6):e0125416.
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Ahmad J,
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Sohail M,
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