All individuals with variants in gene WFS1

366 entries on 4 pages. Showing entries 1 - 100.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00002998 - - - - - - - - - - - ? low frequency hearing loss 1 1 Marcel Nelen
00037405 - - - - - Germany - - 0 - - WFSL - 1 1 Andreas Laner
00037406 - - - - - Germany - - 0 - - OPA Optikusatrophie bilateral, inner ear hearing loss bilateral 1 1 Andreas Laner
00037407 - - - - - Germany - - 0 - - OPA suspected hereditary Optikusatrophie, family history positive 1 1 Andreas Laner
00037408 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00059150 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - 0 - - DFNB;ARNSHL - 1 1 Manou Sommen
00060255 - PubMed: Brownstein 2011, Journal: Brownstein 2011 3-generation family, 3 affecteds (2F, 3M) F;M no Israel Jewish-Ashkenazi - 0 - - DFNA1 DFNA-6/14/38; congenital NSHL, low-tone, U-shaped audiogram 1 5 Zippi Brownstein
00079998 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00080014 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00080040 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00080141 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00144156 - PubMed: Katagiri 2014 index patient F no Japan Japanese - 0 - - retinal disease - 1 1 Rob W.J. Collin
00164351 Jansen et al. Patient 13 Jansen, submitted - F - - - - 0 - - ID hypotonia (HP:0001290),; facial dysmorphism (HP:0001999),; moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Lisenka Vissers
00210168 - - - F - Germany - - 0 - - - HP:0012372 (Abnormal eye morphology); HP:0012373 (Abnormal eye physiology); HP:0000505 (Visual impairment); HP:0000648 (Optic atrophy) 1 1 Andreas Laner
00282473 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282474 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282475 - PubMed: Tranebjærg 1993, PubMed: Franks 2008, PubMed: Sandhu 2007, PubMed: Ohata 1998, PubMed: Duzkale 2013, PubMed: Fawcett 2010 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282476 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282477 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282478 - PubMed: Gómez-Zaera 2001 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282479 - PubMed: Chaussenot 2011, PubMed: Xiong 2015 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282480 - PubMed: Rigoli 2013 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282481 - PubMed: Zalloua 2008 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282482 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282483 - PubMed: Giuliano 2005 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282484 - PubMed: Khanim 2001 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282485 - PubMed: Smith 2004, PubMed: Xiong 2015 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282486 - PubMed: Khanim 2001 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282487 - PubMed: Hardy 1999, PubMed: Xiong 2015 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282488 - PubMed: Gómez-Zaera 2001 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282489 - PubMed: Marshall 2013 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282490 - PubMed: Strom 1998 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282491 - PubMed: Chaussenot 2011 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282492 - PubMed: Gasparin 2009 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282493 - PubMed: Gonçalves 2014 - - - - - - 0 - - HL - 1 1 Global Variome, with Curator vacancy
00282494 - PubMed: Zenteno 2008 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282495 - PubMed: Lombardo 2014 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282496 - PubMed: Colosimo 2003 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282497 - PubMed: Matsunaga 2014 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282498 - PubMed: Matsunaga 2014 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282499 - PubMed: Hansen 2005, PubMed: Xiong 2015 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282500 - PubMed: Strom 1998 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282501 - PubMed: Marshall 2013 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282502 - - - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282503 - PubMed: van ven Ouweland 2003 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282504 - PubMed: Cano 2007 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282505 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282506 - PubMed: Khanim 2001, PubMed: Xiong 2015 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282507 - PubMed: Tranebjærg 1993, PubMed: Strom 1998, PubMed: Xiong 2015 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282508 - PubMed: Fogel 2014 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00282509 - PubMed: Fogel 2014 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00282510 - PubMed: Marshall 2013 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282511 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282512 - PubMed: Fogel 2014 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00282513 - PubMed: Rohayem 2011 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282514 - PubMed: Chaussenot 2015 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282515 - PubMed: Matsunaga 2014 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282516 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282517 - PubMed: Matsunaga 2014 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282518 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282519 - PubMed: Hardy 1999, PubMed: Xiong 2015 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282520 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282521 - PubMed: Giuliano 2005, PubMed: Xiong 2015 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282522 - PubMed: Richards 2015 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282523 - PubMed: Domènech 2004 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282524 - PubMed: Tranebjærg 1993, PubMed: Shearer 1993, PubMed: Richards 2015, PubMed: Shu 2003 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282525 - PubMed: Hardy 1999 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282526 - PubMed: Cano 2007 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282527 - PubMed: Gasparin 2009 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282528 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282529 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282530 - PubMed: Hardy 1999 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282531 - PubMed: Hardy 1999 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282532 - PubMed: Miyagawa 2013 - - - - - - 0 - - deafness - 1 1 Global Variome, with Curator vacancy
00282533 - - - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282534 - PubMed: Hansen 2005 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282535 - PubMed: Hansen 2005 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282536 - PubMed: Bonnycastle 2013 - - - - - - 0 - - diabetes - 1 1 Global Variome, with Curator vacancy
00282537 - PubMed: Chaussenot 2015 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282538 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282539 - PubMed: Smith 2004 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282540 - PubMed: Hofmann 2003 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282541 - PubMed: Eller 2001 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282542 - PubMed: Cano 2007 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282543 - PubMed: Chaussenot 2011 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282544 - PubMed: Khanim 2001 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282545 - - - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282546 - PubMed: Fogel 2014 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00282547 - PubMed: Hardy 1999 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282548 - PubMed: Chaussenot 2011 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282549 - PubMed: Strom 1998 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282550 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282551 - PubMed: Nakamura 2006 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282552 - PubMed: Colosimo 2003, PubMed: Hofmann 2003 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282553 - PubMed: Giuliano 2005 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282554 - - - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282555 - PubMed: Richards 2015 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00282556 - PubMed: Gasparin 2009 - - - - - - 0 - - WFS - 1 1 Global Variome, with Curator vacancy
00282557 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
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