Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified (English)
- New search for: Kaur, A.
- New search for: Kaur, A.
In:
CLINICAL GENETICS
;
84
, 4
;
341-342
;
2013
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ISSN:
- Article (Journal) / Print
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Title:Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified
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Contributors:Kaur, A. ( author )
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Published in:CLINICAL GENETICS ; 84, 4 ; 341-342
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Publisher:
- New search for: Blackwell Publishing Ltd
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Publication date:2013-01-01
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Size:2 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 616.0420
- Further information on Dewey Decimal Classification
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Classification:
DDC: 616.0420 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 84, Issue 4
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 303
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The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findingsConnell, FC / Gordon, K / Brice, G / Keeley, V / Jeffery, S / Mortimer, PS / Mansour, S / Ostergaard, P et al. | 2013
- 315
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Molecular cytogenetics: recent developments and applications in cancerDas, K / Tan, P et al. | 2013
- 326
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Beckwith–Wiedemann and Silver–Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growthJacob, KJ / Robinson, WP / Lefebvre, L et al. | 2013
- 335
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Perceptions of genetic counseling services in direct‐to‐consumer personal genomic testingDarst, BF / Madlensky, L / Schork, NJ / Topol, EJ / Bloss, CS et al. | 2013
- 340
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Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosisLee, JW et al. | 2013
- 341
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Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identifiedKaur, A et al. | 2013
- 342
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Early infantile onset of atypical hemolytic‐uremic syndrome is caused by recessive mutations in DGKELee, JW et al. | 2013
- 344
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Cardiac characterization of 16 patients with large NF1 gene deletionsNguyen, R / Mir, TS / Kluwe, L / Jett, K / Kentsch, M / Mueller, G / Kehrer‐Sawatzki, H / Friedman, JM / Mautner, V‐F et al. | 2013
- 350
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Rapid disease progression in adult‐onset mitochondrial membrane protein‐associated neurodegenerationDogu, O / Krebs, CE / Kaleagasi, H / Demirtas, Z / Oksuz, N / Walker, RH / Paisán‐Ruiz, C et al. | 2013
- 356
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Identification of seven novel SMPD1 mutations causing Niemann–Pick disease types A and BIrun, P / Mallén, M / Dominguez, C / Rodriguez‐Sureda, V / Alvarez‐Sala, LA / Arslan, N / Bermejo, N / Guerrero, C / Perez de Soto, I / Villalón, L et al. | 2013
- 362
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Syndromic non‐compaction of the left ventricle: associated chromosomal anomaliesDigilio, MC / Bernardini, L / Gagliardi, MG / Versacci, P / Baban, A / Capolino, R / Dentici, ML / Roberti, MC / Angioni, A / Novelli, A et al. | 2013
- 368
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Myoclonus‐dystonia and Silver–Russell syndrome resulting from maternal uniparental disomy of chromosome 7Sheridan, MB / Bytyci Telegrafi, A / Stinnett, V / Umeh, CC / Mari, Z / Dawson, TM / Bodurtha, J / Batista, DAS et al. | 2013
- 373
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A centralized approach to out‐of‐province genetic testing leads to cost savings: the Alberta experienceLilley, M / Christian, S / Blumenschein, P / Chan, S / Somerville, M et al. | 2013
- 378
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A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation familyBrice, G / Ostergaard, P / Jeffery, S / Gordon, K / Mortimer, PS / Mansour, S et al. | 2013
- 382
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New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's diseaseLoesch, DZ / Tassone, F / Lo, J / Slater, HR / Hills, LV / Bui, MQ / Silburn, PA / Mellick, GD et al. | 2013
- 386
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The L444P GBA mutation is associated with early‐onset Parkinson's disease in Mexican MestizosGonzález‐del Rincón, M de L / Monroy Jaramillo, N / Suárez Martínez, AI / Yescas Gómez, P / Boll Woehrlen, MC / López López, M / Alonso Vilatela, ME et al. | 2013
- 388
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SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutationsRendtorff, ND / Schrijver, I / Lodahl, M / Rodriguez‐Paris, J / Johnsen, T / Hansén, EC / Nickelsen, LAA / Tümer, Z / Fagerheim, T / Wetke, R et al. | 2013
- 392
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Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotypeHogue, J / Lee, C / Jelin, A / Strecker, MN / Cox, VA / Slavotinek, AM et al. | 2013
- 394
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Whole‐exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrumCaglayan, AO / Per, H / Akgumus, G / Gumus, H / Baranoski, J / Canpolat, M / Calik, M / Yikilmaz, A / Bilguvar, K / Kumandas, S et al. | 2013
- 394
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A second report of TMCO1 defect syndrome in a patient diagnosed with whole-exome sequencing: expanding phenotypic spectrumCaglayan, A. / Per, H. / Akgumus, G. / Gumus, H. / Baranoski, J. / Canpolat, M. / Calik, M. / Yikilmaz, A. / Bilguvar, K. / Kumandas, S. et al. | 2013