Pascal and Francis Bibliographic Databases

Help

Search results

Your search

is.\*:("1018-4813")

Filter

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Publication Year[py]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Discipline (document) [di]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Language

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Author Country

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Results 1 to 25 of 1810

  • Page / 73
Export

Selection :

  • and

A genome-wide search for linkage to allergic rhinitis in Danish sib-pair familiesKRUSE, Lisbeth Venø; NYEGAARD, Mette; BØRGLUM, Anders Dupont et al.European journal of human genetics. 2012, Vol 20, Num 9, pp 965-972, issn 1018-4813, 8 p.Article

A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndromeAL-HAGGAR, Mohammad; MADEJ-PILARCZYK, Agnieszka; KOZLOWSKI, Lukasz et al.European journal of human genetics. 2012, Vol 20, Num 11, pp 1134-1140, issn 1018-4813, 7 p.Article

ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndromeBOURDEAUT, Franck; FERRAND, Sandrine; ISIDOR, Bertrand et al.European journal of human genetics. 2012, Vol 20, Num 3, pp 291-297, issn 1018-4813, 7 p.Article

An evaluation of different meta-analysis approaches in the presence of allelic heterogeneityASIMIT, Jennifer; DAY-WILLIAMS, Aaron; ZGAGA, Lina et al.European journal of human genetics. 2012, Vol 20, Num 6, pp 709-712, issn 1018-4813, 4 p.Article

Attitudes of general practitioners and midwives towards ethnicity-based haemoglobinopathy- carrier screeningJANS, Suze Mpj; DE JONGE, Ank; HENNEMAN, Lidewij et al.European journal of human genetics. 2012, Vol 20, Num 11, pp 1112-1117, issn 1018-4813, 6 p.Article

Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical managementHAASDIJK, Remco A; CHENG, Caroline; MAAT-KIEVIT, Anneke J et al.European journal of human genetics. 2012, Vol 20, Num 2, pp 134-140, issn 1018-4813, 7 p.Article

De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalanceSIBBONS, Charlene; MORRIS, Joan K; CROLLA, John A et al.European journal of human genetics. 2012, Vol 20, Num 2, pp 155-160, issn 1018-4813, 6 p.Article

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactylyKLOPOCKI, Eva; KÄHLER, Christian; MUNDLOS, Stefan et al.European journal of human genetics. 2012, Vol 20, Num 6, pp 705-708, issn 1018-4813, 4 p.Article

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44SREENATH NAGAMANI, Sandesh C; EREZ, Ayelet; HOPKINS, Bobbi et al.European journal of human genetics. 2012, Vol 20, Num 2, pp 176-179, issn 1018-4813, 4 p.Article

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndromeVIEIRA, Gustavo H; RODRIGUEZ, Jayson D; WALZ, Katherina et al.European journal of human genetics. 2012, Vol 20, Num 2, pp 148-154, issn 1018-4813, 7 p.Article

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromasTHOMAS, Laura; SPURLOCK, Gill; UPADHYAYA, Meena et al.European journal of human genetics. 2012, Vol 20, Num 4, pp 411-419, issn 1018-4813, 9 p.Article

Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndromeHAMMOND, Peter; HANNES, Femke; SOUTH, Sarah T et al.European journal of human genetics. 2012, Vol 20, Num 1, pp 33-40, issn 1018-4813, 8 p.Article

Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutationVIART, Victoria; DES GEORGES, Marie; CLAUSTRES, Mireille et al.European journal of human genetics. 2012, Vol 20, Num 2, pp 180-184, issn 1018-4813, 5 p.Article

Genome-wide scan with nearly 700 000 SNPs in two Sardinian sub-populations suggests some regions as candidate targets for positive selectionPIRAS, Ignazio Stefano; DE MONTIS, Antonella; CALO, Carla Maria et al.European journal of human genetics. 2012, Vol 20, Num 11, pp 1155-1161, issn 1018-4813, 7 p.Article

Genotype and cognitive phenotype of patients with tuberous sclerosis complexEEGHEN, Agnies M.van; BLACK, Margaux E; PULSIFER, Margaret B et al.European journal of human genetics. 2012, Vol 20, Num 5, pp 510-515, issn 1018-4813, 6 p.Article

Health-care providers' views on pursuing reproductive benefit through newborn screening: the case of sickle cell disordersBOMBARD, Yvonne; MILLER, Fiona A; HAYEEMS, Robin Z et al.European journal of human genetics. 2012, Vol 20, Num 5, pp 498-504, issn 1018-4813, 7 p.Article

How to deal with the early GWAS data when imputing and combining different arrays is necessaryUH, Hae-Won; DEELEN, Joris; BÖHRINGER, Stefan et al.European journal of human genetics. 2012, Vol 20, Num 5, pp 572-576, issn 1018-4813, 5 p.Article

Identification and functional analysis of novel THAP1 mutationsLOHMANN, Katja; UFLACKER, Nils; ZITTEL, Simone et al.European journal of human genetics. 2012, Vol 20, Num 2, pp 171-175, issn 1018-4813, 5 p.Article

Low prevalence of lactase persistence in Neolithic South-West Europe: This article has been corrected since Advance Online Publication and a corrigendum is also printed in this issuePLANTINGA, Theo S; ALONSO, Santos; IZAGIRRE, Neskuts et al.European journal of human genetics. 2012, Vol 20, Num 7, pp 778-782, issn 1018-4813, 5 p.Article

Meta-analysis of genetic association studies under heterogeneityNEUPANE, Binod; LOEB, Mark; ANAND, Sonia S et al.European journal of human genetics. 2012, Vol 20, Num 11, pp 1174-1181, issn 1018-4813, 8 p.Article

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy: This article has been corrected since Advance Online Publication and a corrigendum is also printed in this issueTUPPEN, Helen Al; NAESS, Karin; BLAKELY, Emma L et al.European journal of human genetics. 2012, Vol 20, Num 8, pp 897-904, issn 1018-4813, 8 p.Article

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann SyndromeBOONEN, Susanne E; HAHNEMANN, Johanne Md; MACKAY, Deborah et al.European journal of human genetics. 2012, Vol 20, Num 1, pp 119-121, issn 1018-4813, 3 p.Article

Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmusRADHAKRISHNA, Uppala; RATNAMALA, Uppala; ANTONARAKIS, Stylianos E et al.European journal of human genetics. 2012, Vol 20, Num 10, pp 1032-1036, issn 1018-4813, 5 p.Article

PDGFRa mutations in humans with isolated cleft palateRATTANASOPHA, Sawitree; TONGKOBPETCH, Siraprapa; SRICHOMTHONG, Chalurmpon et al.European journal of human genetics. 2012, Vol 20, Num 10, pp 1058-1062, issn 1018-4813, 5 p.Article

Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cyclesKEYMOLEN, Kathelijn; STAESSEN, Catherine; VERPOEST, Willem et al.European journal of human genetics. 2012, Vol 20, Num 4, pp 376-380, issn 1018-4813, 5 p.Article

  • Page / 73