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Items: 1 to 50 of 443

1.

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PMID:
30311386
2.

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.

Schrauwen I, Valgaeren H, Tomas-Roca L, Sommen M, Altunoglu U, Wesdorp M, Beyens M, Fransen E, Nasir A, Vandeweyer G, Schepers A, Rahmoun M, van Beusekom E, Huentelman MJ, Offeciers E, Dhooghe I, Huber A, Van de Heyning P, Zanetti D, De Leenheer EMR, Gilissen C, Hoischen A, Cremers CW, Verbist B, de Brouwer APM, Padberg GW, Pennings R, Kayserili H, Kremer H, Van Camp G, van Bokhoven H.

Genet Med. 2018 Oct 5. doi: 10.1038/s41436-018-0300-5. [Epub ahead of print]

PMID:
30287925
3.

Poor Splice-Site Recognition in a Humanized Zebrafish Knockin Model for the Recurrent Deep-Intronic c.7595-2144A>G Mutation in USH2A.

Slijkerman R, Goloborodko A, Broekman S, de Vrieze E, Hetterschijt L, Peters T, Gerits M, Kremer H, van Wijk E.

Zebrafish. 2018 Oct 3. doi: 10.1089/zeb.2018.1613. [Epub ahead of print]

PMID:
30281416
4.

Antisense Oligonucleotide Design and Evaluation of Splice-Modulating Properties Using Cell-Based Assays.

Slijkerman R, Kremer H, van Wijk E.

Methods Mol Biol. 2018;1828:519-530. doi: 10.1007/978-1-4939-8651-4_34.

PMID:
30171565
5.

Grxcr2 is required for stereocilia morphogenesis in the cochlea.

Avenarius MR, Jung JY, Askew C, Jones SM, Hunker KL, Azaiez H, Rehman AU, Schraders M, Najmabadi H, Kremer H, Smith RJH, Géléoc GSG, Dolan DF, Raphael Y, Kohrman DC.

PLoS One. 2018 Aug 29;13(8):e0201713. doi: 10.1371/journal.pone.0201713. eCollection 2018.

6.

Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.

de Bruijn SE, Verbakel SK, de Vrieze E, Kremer H, Cremers FPM, Hoyng CB, van den Born LI, Roosing S.

J Med Genet. 2018 Oct;55(10):705-712. doi: 10.1136/jmedgenet-2018-105364. Epub 2018 Aug 17.

PMID:
30120214
7.

The cerebral metabolic topography of spinocerebellar ataxia type 3.

Meles SK, Kok JG, De Jong BM, Renken RJ, de Vries JJ, Spikman JM, Ziengs AL, Willemsen ATM, van der Horn HJ, Leenders KL, Kremer HPH.

Neuroimage Clin. 2018 Mar 29;19:90-97. doi: 10.1016/j.nicl.2018.03.038. eCollection 2018.

8.

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

Wesdorp M, Murillo-Cuesta S, Peters T, Celaya AM, Oonk A, Schraders M, Oostrik J, Gomez-Rosas E, Beynon AJ, Hartel BP, Okkersen K, Koenen HJPM, Weeda J, Lelieveld S, Voermans NC, Joosten I, Hoyng CB, Lichtner P, Kunst HPM, Feenstra I, de Bruijn SE; DOOFNL Consortium, Admiraal RJC, Yntema HG, van Wijk E, Del Castillo I, Serra P, Varela-Nieto I, Pennings RJE, Kremer H.

Am J Hum Genet. 2018 Jul 5;103(1):74-88. doi: 10.1016/j.ajhg.2018.05.011. Epub 2018 Jun 28.

PMID:
29961571
9.

Usherin defects lead to early-onset retinal dysfunction in zebrafish.

Dona M, Slijkerman R, Lerner K, Broekman S, Wegner J, Howat T, Peters T, Hetterschijt L, Boon N, de Vrieze E, Sorusch N, Wolfrum U, Kremer H, Neuhauss S, Zang J, Kamermans M, Westerfield M, Phillips J, van Wijk E.

Exp Eye Res. 2018 Aug;173:148-159. doi: 10.1016/j.exer.2018.05.015. Epub 2018 May 16.

PMID:
29777677
10.

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

Wesdorp M, de Koning Gans PAM, Schraders M, Oostrik J, Huynen MA, Venselaar H, Beynon AJ, van Gaalen J, Piai V, Voermans N, van Rossum MM, Hartel BP, Lelieveld SH, Wiel L, Verbist B, Rotteveel LJ, van Dooren MF, Lichtner P, Kunst HPM, Feenstra I, Admiraal RJC; DOOFNL Consortium, Yntema HG, Hoefsloot LH, Pennings RJE, Kremer H.

Hum Genet. 2018 May 12. doi: 10.1007/s00439-018-1880-5. [Epub ahead of print]

11.

Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.

Wesdorp M, Schreur V, Beynon AJ, Oostrik J, van de Kamp JM, Elting MW, van den Boogaard MH, Feenstra I, Admiraal RJC, Kunst HPM, Hoyng CB, Kremer H, Yntema HG, Pennings RJE, Schraders M.

Clin Genet. 2018 Aug;94(2):221-231. doi: 10.1111/cge.13368. Epub 2018 Jun 8.

PMID:
29676012
12.

Integrated and Person-Centered Care for Community-Living Older Adults: A Cost-Effectiveness Study.

Uittenbroek RJ, van Asselt ADI, Spoorenberg SLW, Kremer HPH, Wynia K, Reijneveld SA.

Health Serv Res. 2018 Oct;53(5):3471-3494. doi: 10.1111/1475-6773.12853. Epub 2018 Mar 24.

PMID:
29573398
13.

Mesenchymal stromal/stem cells as potential therapy in diabetic retinopathy.

Fiori A, Terlizzi V, Kremer H, Gebauer J, Hammes HP, Harmsen MC, Bieback K.

Immunobiology. 2018 Feb 2. pii: S0171-2985(18)30001-9. doi: 10.1016/j.imbio.2018.01.001. [Epub ahead of print] Review.

PMID:
29402461
14.

Trends in discharges from the HIV/AIDS ward at a tertiary Canadian Hospital from 2005 to 2014.

Jaworsky D, Phillips P, Cui Z, Chau W, Colley G, Dutta R, Yip B, Kremer H, Eyawo O, Montaner JS, Hull MW.

AIDS Care. 2018 Sep;30(9):1099-1106. doi: 10.1080/09540121.2018.1434121. Epub 2018 Feb 4.

PMID:
29397766
15.

Effects of a population-based, person-centred and integrated care service on health, wellbeing and self-management of community-living older adults: A randomised controlled trial on Embrace.

Spoorenberg SLW, Wynia K, Uittenbroek RJ, Kremer HPH, Reijneveld SA.

PLoS One. 2018 Jan 19;13(1):e0190751. doi: 10.1371/journal.pone.0190751. eCollection 2018.

16.

Construct Validity and Reliability of the SARA Gait and Posture Sub-scale in Early Onset Ataxia.

Lawerman TF, Brandsma R, Verbeek RJ, van der Hoeven JH, Lunsing RJ, Kremer HPH, Sival DA.

Front Hum Neurosci. 2017 Dec 13;11:605. doi: 10.3389/fnhum.2017.00605. eCollection 2017.

17.

[Embrace, integrated primary care for older adults].

Uittenbroek RJ, Kremer HPH, Spoorenberg SLW, Reijneveld SA, Wynia K.

Ned Tijdschr Geneeskd. 2017;161:D1141. Dutch.

PMID:
28659201
18.

Psychological impact of a genetic diagnosis on hearing impairment-An exploratory study.

Oonk AMM, Ariens S, Kunst HPM, Admiraal RJC, Kremer H, Pennings RJE.

Clin Otolaryngol. 2018 Feb;43(1):47-54. doi: 10.1111/coa.12908. Epub 2017 Jun 26.

PMID:
28556609
19.

Stability and relative validity of the Neuromuscular Disease Impact Profile (NMDIP).

Bos I, Kuks JBM, Almansa J, Kremer HPH, Wynia K.

BMC Neurol. 2017 May 11;17(1):87. doi: 10.1186/s12883-017-0866-6.

20.

Out-of-hospital cardiac arrest survivors sent for emergency angiography: a clinical score for predicting acute myocardial infarction.

Zeyons F, Jesel L, Morel O, Kremer H, Messas N, Hess S, Crimizade U, Reydel P, Tritsch L, Ohlmann P.

Eur Heart J Acute Cardiovasc Care. 2017 Mar;6(2):103-111. doi: 10.1177/2048872616683525. Epub 2016 Dec 20.

PMID:
28304194
21.

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.

Wesdorp M, van de Kamp JM, Hensen EF, Schraders M, Oostrik J, Yntema HG, Feenstra I, Admiraal RJC, Kunst HPM, Tekin M, Kanaan M, Kremer H, Pennings RJE.

Hear Res. 2017 Apr;347:56-62. doi: 10.1016/j.heares.2016.12.017. Epub 2017 Jan 12.

PMID:
28089734
22.

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.

Zazo Seco C, Castells-Nobau A, Joo SH, Schraders M, Foo JN, van der Voet M, Velan SS, Nijhof B, Oostrik J, de Vrieze E, Katana R, Mansoor A, Huynen M, Szklarczyk R, Oti M, Tranebjærg L, van Wijk E, Scheffer-de Gooyert JM, Siddique S, Baets J, de Jonghe P, Kazmi SA, Sadananthan SA, van de Warrenburg BP, Khor CC, Göpfert MC, Qamar R, Schenck A, Kremer H, Siddiqi S.

Dis Model Mech. 2017 Feb 1;10(2):105-118. doi: 10.1242/dmm.026476. Epub 2016 Dec 15.

23.

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

Zazo Seco C, Wesdorp M, Feenstra I, Pfundt R, Hehir-Kwa JY, Lelieveld SH, Castelein S, Gilissen C, de Wijs IJ, Admiraal RJ, Pennings RJ, Kunst HP, van de Kamp JM, Tamminga S, Houweling AC, Plomp AS, Maas SM, de Koning Gans PA, Kant SG, de Geus CM, Frints SG, Vanhoutte EK, van Dooren MF, van den Boogaard MH, Scheffer H, Nelen M, Kremer H, Hoefsloot L, Schraders M, Yntema HG.

Eur J Hum Genet. 2017 Feb;25(3):308-314. doi: 10.1038/ejhg.2016.182. Epub 2016 Dec 21.

24.

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation.

Slijkerman RW, Vaché C, Dona M, García-García G, Claustres M, Hetterschijt L, Peters TA, Hartel BP, Pennings RJ, Millan JM, Aller E, Garanto A, Collin RW, Kremer H, Roux AF, Van Wijk E.

Mol Ther Nucleic Acids. 2016 Nov 1;5(10):e381. doi: 10.1038/mtna.2016.89.

25.

Biventricular Takotsubo cardiomyopathy and "eclipsed" tricuspid regurgitation: insights from contrast right ventriculography.

Messas N, Morel O, Collange O, Kremer H, Jesel L, Ohlmann P.

EuroIntervention. 2016 Oct 10;12(8):e1072. doi: 10.4244/EIJV12I8A174. No abstract available.

26.

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

Hartel BP, Löfgren M, Huygen PL, Guchelaar I, Lo-A-Njoe Kort N, Sadeghi AM, van Wijk E, Tranebjærg L, Kremer H, Kimberling WJ, Cremers CW, Möller C, Pennings RJ.

Hear Res. 2016 Sep;339:60-8. doi: 10.1016/j.heares.2016.06.008. Epub 2016 Jun 16.

PMID:
27318125
27.

Riluzole in patients with hereditary cerebellar ataxia.

Brandsma R, Kremer HPH, Sival DA.

Lancet Neurol. 2016 Jul;15(8):788. doi: 10.1016/S1474-4422(16)00131-9. No abstract available.

PMID:
27302351
28.

Impact of Prosthesis-Patient Mismatch on Long-term Functional Capacity After Mechanical Aortic Valve Replacement.

Petit-Eisenmann H, Epailly E, Velten M, Radojevic J, Eisenmann B, Kremer H, Kindo M.

Can J Cardiol. 2016 Dec;32(12):1493-1499. doi: 10.1016/j.cjca.2016.02.076. Epub 2016 Mar 8.

PMID:
27297001
29.

Integrated Care for Older Adults Improves Perceived Quality of Care: Results of a Randomized Controlled Trial of Embrace.

Uittenbroek RJ, Kremer HPH, Spoorenberg SLW, Reijneveld SA, Wynia K.

J Gen Intern Med. 2017 May;32(5):516-523. doi: 10.1007/s11606-016-3742-y. Epub 2016 Jun 6.

30.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.

Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group.

Nat Commun. 2016 May 13;7:11491. doi: 10.1038/ncomms11491.

31.

Relationship Between Spiritual Coping and Survival in Patients with HIV.

Ironson G, Kremer H, Lucette A.

J Gen Intern Med. 2016 Sep;31(9):1068-76. doi: 10.1007/s11606-016-3668-4. Epub 2016 May 5.

32.

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.

Sanders AA, de Vrieze E, Alazami AM, Alzahrani F, Malarkey EB, Sorusch N, Tebbe L, Kuhns S, van Dam TJ, Alhashem A, Tabarki B, Lu Q, Lambacher NJ, Kennedy JE, Bowie RV, Hetterschijt L, van Beersum S, van Reeuwijk J, Boldt K, Kremer H, Kesterson RA, Monies D, Abouelhoda M, Roepman R, Huynen MH, Ueffing M, Russell RB, Wolfrum U, Yoder BK, van Wijk E, Alkuraya FS, Blacque OE.

Genome Biol. 2015 Dec 29;16:293. doi: 10.1186/s13059-015-0858-z.

33.

A novel diagnostic approach to patients with myoclonus.

Zutt R, van Egmond ME, Elting JW, van Laar PJ, Brouwer OF, Sival DA, Kremer HP, de Koning TJ, Tijssen MA.

Nat Rev Neurol. 2015 Dec;11(12):687-97. doi: 10.1038/nrneurol.2015.198. Epub 2015 Nov 10. Review.

PMID:
26553594
34.

Pharmacokinetics of Bedaquiline in Cerebrospinal Fluid and Serum in Multidrug-Resistant Tuberculous Meningitis.

Akkerman OW, Odish OF, Bolhuis MS, de Lange WC, Kremer HP, Luijckx GJ, van der Werf TS, Alffenaar JW.

Clin Infect Dis. 2016 Feb 15;62(4):523-4. doi: 10.1093/cid/civ921. Epub 2015 Nov 3. No abstract available.

PMID:
26534926
35.

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

Zazo Seco C, Serrão de Castro L, van Nierop JW, Morín M, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J; Baylor-Hopkins Center for Mendelian Genomics, van Reeuwijk J, Lelieveld SH, Huygen PL, Insenser M, Admiraal RJ, Pennings RJ, Hoefsloot LH, Arias-Vásquez A, de Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, van Rossum MM, Lupski JR, Moreno-Pelayo MA, Kunst HP, Kremer H.

Am J Hum Genet. 2015 Nov 5;97(5):647-60. doi: 10.1016/j.ajhg.2015.09.011. Epub 2015 Oct 29.

36.

Experiences of Community-Living Older Adults Receiving Integrated Care Based on the Chronic Care Model: A Qualitative Study.

Spoorenberg SL, Wynia K, Fokkens AS, Slotman K, Kremer HP, Reijneveld SA.

PLoS One. 2015 Oct 21;10(10):e0137803. doi: 10.1371/journal.pone.0137803. eCollection 2015.

37.

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

Bachmann-Gagescu R, Dona M, Hetterschijt L, Tonnaer E, Peters T, de Vrieze E, Mans DA, van Beersum SE, Phelps IG, Arts HH, Keunen JE, Ueffing M, Roepman R, Boldt K, Doherty D, Moens CB, Neuhauss SC, Kremer H, van Wijk E.

PLoS Genet. 2015 Oct 20;11(10):e1005575. doi: 10.1371/journal.pgen.1005575. eCollection 2015 Oct.

38.

NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish.

Dona M, Bachmann-Gagescu R, Texier Y, Toedt G, Hetterschijt L, Tonnaer EL, Peters TA, van Beersum SE, Bergboer JG, Horn N, de Vrieze E, Slijkerman RW, van Reeuwijk J, Flik G, Keunen JE, Ueffing M, Gibson TJ, Roepman R, Boldt K, Kremer H, van Wijk E.

PLoS Genet. 2015 Oct 20;11(10):e1005574. doi: 10.1371/journal.pgen.1005574. eCollection 2015 Oct.

39.

Takotsubo cardiomyopathy triggered by ischemic injury: When lateralmyocardial infarction precipitate apical ballooning syndrome.

Messas N, Caspar T, Jesel L, Hess S, Girardey M, Radulescu B, Zupan M, Crimizade U, Kremer H, Ohlmann P, Morel O.

Int J Cardiol. 2016 Jan 1;202:858-60. doi: 10.1016/j.ijcard.2015.10.065. Epub 2015 Oct 8. No abstract available.

PMID:
26476982
40.

Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference.

Oonk AM, Huygen PL, Kunst HP, Kremer H, Pennings RJ.

Clin Otolaryngol. 2016 Oct;41(5):487-97. doi: 10.1111/coa.12567. Epub 2016 Feb 11. Review.

PMID:
26474130
41.

Low levels of vitamin D are associated with multimorbidity: results from the LifeLines Cohort Study.

Meems LM, de Borst MH, Postma DS, Vonk JM, Kremer HP, Schuttelaar ML, Rosmalen JG, Weersma RK, Wolffenbuttel BH, Scholtens S, Stolk RP, Kema IP, Navis G, Khan MA, van der Harst P, de Boer RA.

Ann Med. 2015;47(6):474-81. doi: 10.3109/07853890.2015.1073347. Epub 2015 Sep 4.

PMID:
26340085
42.

Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.

van Beelen E, Oonk AM, Leijendeckers JM, Hoefsloot EH, Pennings RJ, Feenstra I, Dieker HJ, Huygen PL, Snik AF, Kremer H, Kunst HP.

Ear Hear. 2016 Jan-Feb;37(1):103-11. doi: 10.1097/AUD.0000000000000217.

PMID:
26331839
43.

Development and psychometric evaluation of a measure to evaluate the quality of integrated care: the Patient Assessment of Integrated Elderly Care.

Uittenbroek RJ, Reijneveld SA, Stewart RE, Spoorenberg SL, Kremer HP, Wynia K.

Health Expect. 2016 Aug;19(4):962-72. doi: 10.1111/hex.12391. Epub 2015 Jul 31.

44.

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.

Nyegaard M, Rendtorff ND, Nielsen MS, Corydon TJ, Demontis D, Starnawska A, Hedemand A, Buniello A, Niola F, Overgaard MT, Leal SM, Ahmad W, Wikman FP, Petersen KB, Crüger DG, Oostrik J, Kremer H, Tommerup N, Frödin M, Steel KP, Tranebjærg L, Børglum AD.

PLoS Genet. 2015 Jul 21;11(7):e1005386. doi: 10.1371/journal.pgen.1005386. eCollection 2015 Jul.

45.

Vestibular function and temporal bone imaging in DFNB1.

Oonk AM, Beynon AJ, Peters TA, Kunst HP, Admiraal RJ, Kremer H, Verbist B, Pennings RJ.

Hear Res. 2015 Sep;327:227-34. doi: 10.1016/j.heares.2015.07.009. Epub 2015 Jul 15.

PMID:
26188104
46.

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.

Seco CZ, Giese AP, Shafique S, Schraders M, Oonk AM, Grossheim M, Oostrik J, Strom T, Hegde R, van Wijk E, Frolenkov GI, Azam M, Yntema HG, Free RH, Riazuddin S, Verheij JB, Admiraal RJ, Qamar R, Ahmed ZM, Kremer H.

Eur J Hum Genet. 2016 Apr;24(4):542-9. doi: 10.1038/ejhg.2015.157. Epub 2015 Jul 15.

47.

The Geriatric ICF Core Set reflecting health-related problems in community-living older adults aged 75 years and older without dementia: development and validation.

Spoorenberg SL, Reijneveld SA, Middel B, Uittenbroek RJ, Kremer HP, Wynia K.

Disabil Rehabil. 2015;37(25):2337-43. doi: 10.3109/09638288.2015.1024337. Epub 2015 Mar 18.

PMID:
25784203
48.

Interhemispheric Asymmetries and Theta Activity in the Rostral Anterior Cingulate Cortex as EEG Signature of HIV-Related Depression: Gender Matters.

Kremer H, Lutz FP, McIntosh RC, Dévieux JG, Ironson G.

Clin EEG Neurosci. 2016 Apr;47(2):96-104. doi: 10.1177/1550059414563306. Epub 2015 Jan 6.

PMID:
25568149
49.

Spiritual coping predicts CD4-cell preservation and undetectable viral load over four years.

Kremer H, Ironson G, Kaplan L, Stuetzele R, Baker N, Fletcher MA.

AIDS Care. 2015;27(1):71-9. doi: 10.1080/09540121.2014.952220. Epub 2014 Oct 8.

PMID:
25297848
50.

A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.

Siddiqi S, Ismail M, Oostrik J, Munawar S, Mansoor A, Kremer H, Qamar R, Schraders M.

J Hum Genet. 2014 Dec;59(12):683-6. doi: 10.1038/jhg.2014.86. Epub 2014 Oct 9.

PMID:
25296581

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