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William J. Kimberling

Boys Town National Research Hospital

64H指数
285论文数
1.6W被引数
收录论文 45
发表时间
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37
err2019-04-01
err41
errOAAI
errBooth, Kevin T.; Askew, James W.; Talebizadeh, Zohreh; Huygen, Patrick L. M.; Eudy, James; Kenyon, Judith; Hoover, Denise; Hildebrand, Michael S.; Smith, Katherine R.; Bahlo, Melanie; Kimberling, William J.; Smith, Richard J. H.; Azaiez, Hela; Smith, Shelley D.
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HOMER2, a Stereociliary Scaffolding Protein, Is Essential for Normal Hearing in Humans and Mice
err2015-03-27
err49
errOAAI
errAzaiez, Hela; Decker, Amanda R.; Booth, Kevin T.; Simpson, Allen C.; Shearer, A. Eliot; Huygen, Patrick L. M.; Bu, Fengxiao; Hildebrand, Michael S.; Ranum, Paul T.; Shibata, Seiji B.; Turner, Ann; Zhang, Yuzhou; Kimberling, William J.; Cornell, Robert A.; Smith, Richard J. H.
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Advancing genetic testing for deafness with genomic technology用基因组技术推进耳聋基因检测
err2013-06-26
err109
errOAAI
errShearer, A. Eliot; Black-Ziegelbein, E. Ann; Hildebrand, Michael S.; Eppsteiner, Robert W.; Ravi, Harini; Joshi, Swati; Guiffre, Angelica C.; Sloan, Christina M.; Happe, Scott; Howard, Susanna D.; Novak, Barbara; DeLuca, Adam P.; Taylor, Kyle R.; Scheetz, Todd E.; Braun, Terry A.; Casavant, Thomas L.; Kimberling, William J.; LeProust, Emily M.; Smith, Richard J. H.
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Retinal Disease Course in Usher Syndrome 1B Due to MYO7A Mutations
err2011-10-07
err61
errOAAI
errJacobson, Samuel G.; Cideciyan, Artur V.; Gibbs, Dan; Sumaroka, Alexander; Roman, Alejandro J.; Aleman, Tomas S.; Schwartz, Sharon B.; Olivares, Melani B.; Russell, Robert C.; Steinberg, Janet D.; Kenna, Margaret A.; Kimberling, William J.; Rehm, Heidi L.; Williams, David S.
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Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42
err2011-02-01
err100
errOAAI
errBorck, Guntram; Rehman, Atteeq Ur; Lee, Kwanghyuk; Pogoda, Hans-Martin; Kakar, Naseebullah; von Ameln, Simon; Grillet, Nicolas; Hildebrand, Michael S.; Ahmed, Zubair M.; Nuernberg, Gudrun; Ansar, Muhammad; Basit, Sulman; Javed, Qamar; Morell, Robert J.; Nasreen, Nabilah; Shearer, A. Eliot; Ahmad, Adeel; Kahrizi, Kimia; Shaikh, Rehan S.; Ali, Rana A.; Khan, Shaheen N.; Goebel, Ingrid; Meyer, Nicole C.; Kimberling, William J.; Webster, Jennifer A.; Stephan, Dietrich A.; Schiller, Martin R.; Bahlo, Melanie; Najmabadi, Hossein; Gillespie, Peter G.; Nuernberg, Peter; Wollnik, Bernd; Riazuddin, Saima; Smith, Richard J. H.; Ahmad, Wasim; Mueller, Ulrich; Hammerschmidt, Matthias; Friedman, Thomas B.; Riazuddin, Sheikh; Leal, Suzanne M.; Ahmad, Jamil; Kubisch, Christian
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Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children两个儿科人群中Usher综合征的发生频率: 对聋哑和听力障碍儿童的遗传筛查的影响
err2010-08-01
err194
errOAAI
errKimberling, William J.; Hildebrand, Michael S.; Shearer, A. Eliot; Jensen, Maren L.; Halder, Jennifer A.; Trzupek, Karmen; Cohn, Edward S.; Weleber, Richard G.; Stone, Edwin M.; Smith, Richard J. H.
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Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans
err2009-09-01
err128
errOAAI
errGrillet, Nicolas; Schwander, Martin; Hildebrand, Michael S.; Sczaniecka, Anna; Kolatkar, Anand; Velasco, Janice; Webster, Jennifer A.; Kahrizi, Kimia; Najmabadi, Hossein; Kimberling, William J.; Stephan, Dietrich; Bahlo, Melanie; Wiltshire, Tim; Tarantino, Lisa M.; Kuhn, Peter; Smith, Richard J. H.; Mueller, Ulrich
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Disease Boundaries in the Retina of Patients with Usher Syndrome Caused by MYO7A Gene Mutations
err2009-04-01
err83
PREAI
errJacobson, Samuel G.; Aleman, Tomas S.; Sumaroka, Alexander; Cideciyan, Artur V.; Roman, Alejandro J.; Windsor, Elizabeth A. M.; Schwartz, Sharon B.; Rehm, Heidi L.; Kimberling, William J.
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Presence of De Novo Mutations in Autosomal Dominant Polycystic Kidney Disease Patients Without Family History无家族史的常染色体显性多囊肾病患者存在新生突变
err2008-12-01
err66
errOAAI
errReed, Berenice; McFann, Kim; Kimberling, William J.; Pei, York; Gabow, Patricia A.; Christopher, Karen; Petersen, Eric; Kelleher, Catherine; Fain, Pamela R.; Johnson, Ann; Schrier, Robert W.
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Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family
err2008-10-15
err48
errOAAI
errHmani-Aifa, Mounira; Benzina, Zeineb; Zulfiqar, Fareeha; Dhouib, Houria; Shahzadi, Amber; Ghorbel, Abdelmonem; Rebai, Ahmed; Soderkvist, Peter; Riazuddin, Sheikh; Kimberling, William J.; Ayadi, Hammadi
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Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene
err2008-06-01
err73
PREAI
errHerrera, Waldo; Aleman, Tomas S.; Cideciyan, Artur V.; Roman, Alejandro J.; Banin, Eyal; Ben-Yosef, Tamar; Gardner, Leigh M.; Sumaroka, Alexander; Windsor, Elizabeth A. M.; Schwartz, Sharon B.; Stone, Edwin M.; Liu, Xue-Zhong; Kimberling, William J.; Jacobson, Samuel G.
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Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism
err2008-04-17
err101
errOAAI
errJacobson, Samuel G.; Cideciyan, Artur V.; Aleman, Tomas S.; Sumaroka, Alexander; Roman, Alejandro J.; Gardner, Leigh M.; Prosser, Haydn M.; Mishra, Monalisa; Bech-Hansen, N. Torben; Herrera, Waldo; Schwartz, Sharon B.; Liu, Xue-Zhong; Kimberling, William J.; Steel, Karen P.; Williams, David S.
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SIX1 mutation screening in 247 branchio-oto-renal syndrome families: A recurrent missense mutation associated with BOR
err2008-03-10
err80
PREAI
errKochhar, Amit; Orten, Dana J.; Sorensen, Jessica L.; Fischer, Stephanie M.; Cremers, Cor W. R. J.; Kimberling, William J.; Smith, Richard J. H.
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Branchio-oto-renal syndrome (BOR):: Novel mutations in the EYA1 gene, and a review of the mutational genetics of BORBranchio-oto-rene综合征 (BOR):: EYA1基因的新突变,以及BOR的突变遗传学综述
err2008-01-25
err83
PREAI
errOrten, Dana J.; Fischer, Stephanie M.; Sorensen, Jessica L.; Radhakrishna, Uppala; Cremers, Cor W. R. J.; Marres, Henri A. M.; Van Camp, Guy; Welch, Katherine O.; Smith, Richard J. H.; Kimberling, William J.
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Genotype-phenotype correlations for SLC26A4-related deafness
err2007-08-10
err111
errOAAI
errAzaiez, Hela; Yang, Tao; Prasad, Sai; Sorensen, Jessica L.; Nishimura, Carla J.; Kimberling, William J.; Smith, Richard J. H.
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Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome
err2007-04-01
err174
errOAAI
errHoskins, Bethan E.; Cramer, Carl H., II; Silvius, Derek; Zou, Dan; Raymond, Richard M., Jr.; Orten, Dana J.; Kimberling, William J.; Smith, Richard J. H.; Weil, Dominique; Petit, Christine; Otto, Edgar A.; Xu, Pin-Xian; Hildebrandt, Friedhelm
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Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype
err2005-02-01
err53
PREAI
errSchwartz, SB; Aleman, TS; Cideciyan, AV; Windsor, EAM; Sumaroka, A; Roman, AJ; Rane, T; Smilko, EE; Bennett, J; Stone, EM; Kimberling, WJ; Liu, XZ; Jacobson, SG
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Hypoplasia of the cerebellar vermis in neurogenetic syndromes
err2004-10-08
err64
PREAI
errSchaefer, GB; Thompson, JN; Bodensteiner, JB; McConnell, JM; Kimberling, WJ; Gay, CT; Dutton, WD; Hutchings, DC; Gray, SB
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Kinetics of visual field loss in Usher syndrome type II
err2004-03-01
err68
PREAI
errIannaccone, A; Kritchevsky, SB; Ciccarelli, ML; Tedesco, SA; Macalus, C; Kimberling, WJ; Somes, GW
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