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Items: 1 to 20 of 11665

1.

Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families.

Rahman SB, Mir A, Ahmad N, Haider SH, Malik SA, Nasir M.

Congenit Anom (Kyoto). 2018 Jun 23. doi: 10.1111/cga.12303. [Epub ahead of print]

PMID:
29935003
2.

Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma.

Khan MI, Choi S, Zahid M, Ahmad H, Ali R, Jelani M, Kang C.

Genes Genomics. 2018 Jul;40(7):789-795. doi: 10.1007/s13258-018-0695-z. Epub 2018 May 2.

PMID:
29934816
3.

Myotonia congenita in a Labrador Retriever with truncated CLCN1.

Quitt PR, Hytönen MK, Matiasek K, Rosati M, Fischer A, Lohi H.

Neuromuscul Disord. 2018 Jun 19. pii: S0960-8966(18)30046-4. doi: 10.1016/j.nmd.2018.05.002. [Epub ahead of print]

PMID:
29934119
4.

Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy.

Findlay AR, Harms MB, Pestronk A, Weihl CC.

Neuromuscul Disord. 2018 May 21. pii: S0960-8966(18)30002-6. doi: 10.1016/j.nmd.2018.05.006. [Epub ahead of print]

PMID:
29934118
5.

Genomic Landscapes of EBV-Associated Nasopharyngeal Carcinoma vs. HPV-Associated Head and Neck Cancer.

Ngan HL, Wang L, Lo KW, Lui VWY.

Cancers (Basel). 2018 Jun 21;10(7). pii: E210. doi: 10.3390/cancers10070210. Review.

PMID:
29933636
6.

Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy.

Peng J, Pang N, Wang Y, Wang XL, Chen J, Xiong J, Peng P, Zhu CH, Kessi MB, He F, Yin F.

CNS Neurosci Ther. 2018 Jun 22. doi: 10.1111/cns.12869. [Epub ahead of print]

PMID:
29933521
7.

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

[No authors listed]

Mol Genet Genomic Med. 2018 May;6(3):469. doi: 10.1002/mgg3.418. No abstract available.

PMID:
29932520
8.

Advances in the Genetics of Youth-Onset Type 2 Diabetes.

Todd JN, Srinivasan S, Pollin TI.

Curr Diab Rep. 2018 Jun 22;18(8):57. doi: 10.1007/s11892-018-1025-1. Review.

PMID:
29931398
9.

HS6ST1 insufficiency causes self-limited delayed puberty in contrast with other GnRH deficiency genes.

Howard SR, Oleari R, Poliandri A, Chantzara V, Fantin A, Ruiz-Babot G, Metherell LA, Cabrera CP, Barnes MR, Wehkalampi K, Guasti L, Ruhrberg C, Cariboni A, Dunkel L.

J Clin Endocrinol Metab. 2018 Jun 20. doi: 10.1210/jc.2018-00646. [Epub ahead of print]

PMID:
29931354
10.

CGT-seq: epigenome-guided de novo assembly of the core genome for divergent populations with large genome.

Qi M, Li Z, Liu C, Hu W, Ye L, Xie Y, Zhuang Y, Zhao F, Teng W, Zheng Q, Fan Z, Xu L, Lang Z, Tong Y, Zhang Y.

Nucleic Acids Res. 2018 Jun 21. doi: 10.1093/nar/gky522. [Epub ahead of print]

PMID:
29931324
11.

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.

Van Damme T, Pang X, Guillemyn B, Gulberti S, Syx D, De Rycke R, Kaye O, de Die-Smulders CEM, Pfundt R, Kariminejad A, Nampoothiri S, Pierquin G, Bulk S, Larson AA, Chatfield KC, Simon M, Legrand A, Gerard M, Symoens S, Fournel-Gigleux S, Malfait F.

Hum Mol Genet. 2018 Jun 20. doi: 10.1093/hmg/ddy234. [Epub ahead of print]

PMID:
29931299
12.

Clinical and genetic spectrum of a large cohort of children with epilepsy in China.

Yang L, Kong Y, Dong X, Hu L, Lin Y, Chen X, Ni Q, Lu Y, Wu B, Wang H, Lu QR, Zhou W.

Genet Med. 2018 Jun 21. doi: 10.1038/s41436-018-0091-8. [Epub ahead of print]

PMID:
29930392
13.

Clinical exome sequencing in dementias: a preliminary study.

Zalar B, Maver A, Kovanda A, Peterlin A, Peterlin B.

Psychiatr Danub. 2018 Jun;30(2):216-219. doi: 10.24869/psyd.2018.216.

PMID:
29930232
14.

Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology.

Baschal EE, Terhune EA, Wethey CI, Baschal RM, Robinson KD, Cuevas MT, Pradhan S, Sutphin BS, Taylor MRG, Gowan K, Pearson CG, Niswander LA, Jones KL, Miller NH.

G3 (Bethesda). 2018 Jun 21. pii: g3.200290.2018. doi: 10.1534/g3.118.200290. [Epub ahead of print]

PMID:
29930198
15.

Development and Validation of a Genomic Knowledge Scale to Advance Informed Decision Making Research in Genomic Sequencing.

Langer MM, Roche MI, Brewer NT, Berg JS, Khan CM, Leos C, Moore E, Brown M, Rini C.

MDM Policy Pract. 2017 Jan-Jun;2(1). doi: 10.1177/2381468317692582. Epub 2017 Feb 1.

PMID:
29928697
16.

Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder.

Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R.

Seizure. 2018 Jun 13;60:91-93. doi: 10.1016/j.seizure.2018.06.012. [Epub ahead of print]

PMID:
29929112
17.

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.

Palagano E, Zuccarini G, Prontera P, Borgatti R, Stangoni G, Elisei S, Mantero S, Menale C, Forlino A, Uva P, Oppo M, Vezzoni P, Villa A, Merlo GR, Sobacchi C.

Bone. 2018 Jun 18. pii: S8756-3282(18)30244-8. doi: 10.1016/j.bone.2018.06.013. [Epub ahead of print]

PMID:
29929043
18.

DeSanto-Shinawi Syndrome: First Case in South America.

Vanegas S, Ramirez-Montaño D, Candelo E, Shinawi M, Pachajoa H.

Mol Syndromol. 2018 May;9(3):154-158. doi: 10.1159/000488815. Epub 2018 Apr 28.

PMID:
29928181
19.

SNPs in inflammatory genes CCL11, CCL4 and MEFV in a fibromyalgia family study.

Zhang Z, Feng J, Mao A, Le K, La Placa D, Wu X, Longmate J, Marek C, St Amand RP, Neuhausen SL, Shively JE.

PLoS One. 2018 Jun 21;13(6):e0198625. doi: 10.1371/journal.pone.0198625. eCollection 2018.

20.

WNT10A mutation results in severe tooth agenesis in a family of three sisters.

Abid MF, Simpson MA, Barbosa IA, Seppala M, Irving M, Sharpe PT, Cobourne MT.

Orthod Craniofac Res. 2018 Jun 21. doi: 10.1111/ocr.12231. [Epub ahead of print]

PMID:
29927056

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