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Results 1 to 25 of 19888

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An Italian association study and meta-analysis with previous GWAS confirm WNT4, CDKN2BAS and FN1 as the first identified susceptibility loci for endometriosisPAGLIARDINI, Luca; GENTILINI, Davide; VIGANO, Paola et al.Journal of medical genetics. 2013, Vol 50, Num 1, pp 43-46, issn 0022-2593, 4 p.Article

Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathyEDVARDSON, Simon; OZ, Shimrit; AZIZ ABULHIJAA, Fida et al.Journal of medical genetics. 2013, Vol 50, Num 2, pp 118-123, issn 0022-2593, 6 p.Article

Mutation in MPDZ causes severe congenital hydrocephalusAL-DOSARI, Mohammed S; AL-OWAIN, Mohammed; TULBAH, Maha et al.Journal of medical genetics. 2013, Vol 50, Num 1, pp 54-58, issn 0022-2593, 5 p.Article

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disordersZUFFEREY, Flore; SHERR, Elliott H; AYLWARD, Elizabeth et al.Journal of medical genetics. 2012, Vol 49, Num 10, pp 660-668, issn 0022-2593, 9 p.Article

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literatureBEGEMANN, Matthias; SPENGLER, Sabrina; GOGIEL, Magdalena et al.Journal of medical genetics. 2012, Vol 49, Num 9, pp 547-553, issn 0022-2593, 7 p.Article

Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathyECHANIZ-LAGUNA, Andoni; CHASSAGNE, Maïté; CERESUELA, Jennifer et al.Journal of medical genetics. 2012, Vol 49, Num 2, pp 146-150, issn 0022-2593, 5 p.Article

Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemiaNIELSEN, Maartje; VERMONT, Clementien L; ATEN, Emmelien et al.Journal of medical genetics. 2012, Vol 49, Num 9, pp 598-600, issn 0022-2593, 3 p.Article

Gene expression as a quantitative trait: what about translation?POLYCHRONAKOS, Constantin.Journal of medical genetics. 2012, Vol 49, Num 9, pp 554-557, issn 0022-2593, 4 p.Article

Genetic basis of pain variability: recent advancesYOUNG, Erin E; LARIVIERE, William R; BELFER, Inna et al.Journal of medical genetics. 2012, Vol 49, Num 1, pp 1-9, issn 0022-2593, 9 p.Article

Germline mutations in the DNA damage response genes BRCA 1, BRCA2, BARD 1 and TP53 in patients with therapy related myeloid neoplasmsSCHULZ, Eduard; VALENTIN, Angelika; GEIGL, Jochen et al.Journal of medical genetics. 2012, Vol 49, Num 7, pp 422-428, issn 0022-2593, 7 p.Article

Keratinocytic epidermal nevi are associated with mosaic RAS mutationsHAFNER, Christian; TOLL, Agusti; PARERA, Elisabet et al.Journal of medical genetics. 2012, Vol 49, Num 4, pp 249-253, issn 0022-2593, 5 p.Article

Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete molesDIXON, Peter H; TRONGWONGSA, Pirada; ABU-HAYYAH, Shadi et al.Journal of medical genetics. 2012, Vol 49, Num 3, pp 206-211, issn 0022-2593, 6 p.Article

Mutations in TMEM231 cause Joubert syndrome in French CanadiansSROUR, Myriam; HAMDAN, Fadi F; MASSICOTTE, Christine et al.Journal of medical genetics. 2012, Vol 49, Num 10, pp 636-641, issn 0022-2593, 6 p.Article

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer casesEI HOKAYEM, Joyce; HUBER, Céline; GONZALES, Marie et al.Journal of medical genetics. 2012, Vol 49, Num 4, pp 227-233, issn 0022-2593, 7 p.Article

Phenotype difference between ALS patients with expanded repeats in C90RF72 and patients with mutations in other ALS-related genesMILLECAMPS, Stéphanie; BOILLEE, Séverine; PRADAT, Pierre-François et al.Journal of medical genetics. 2012, Vol 49, Num 4, pp 258-263, issn 0022-2593, 6 p.Article

Quantitative trait locus analysis for next-generation sequencing with the functional linear modelsLI LUO; YUN ZHU; MOMIAO XIONG et al.Journal of medical genetics. 2012, Vol 49, Num 8, pp 513-524, issn 0022-2593, 12 p.Article

Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic casesMARTINEZ-DELGADO, Beatriz; YANOWSKY, Kira; ROBLEDO, Mercedes et al.Journal of medical genetics. 2012, Vol 49, Num 5, pp 341-344, issn 0022-2593, 4 p.Article

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencingHALBRITTER, Jan; DIAZ, Katrina; OMRAN, Heymut et al.Journal of medical genetics. 2012, Vol 49, Num 12, pp 756-767, issn 0022-2593, 12 p.Article

Risk of malignant paraganglioma in SDHB-mutation and SDHD-mutation carriers: a systematic review and meta-analysisHULSTEIJN, Leonie Theresia Van; DEKKERS, Olaf M; HES, Frederik J et al.Journal of medical genetics. 2012, Vol 49, Num 12, pp 768-775, issn 0022-2593, 8 p.Article

SNVerGUI: a desktop tool for variant analysis of next-generation sequencing dataWEI WANG; WEICHENG HU; FANG HOU et al.Journal of medical genetics. 2012, Vol 49, Num 12, pp 753-755, issn 0022-2593, 3 p.Article

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual faceHARAKALOVA, Magdalena; DEN BOOGAARD, Marie-Jose Van; HAELST, Mieke Van et al.Journal of medical genetics. 2012, Vol 49, Num 8, pp 539-543, issn 0022-2593, 5 p.Article

2q31.1 microdeletion syndrome: redefining the associated clinical phenotypeDIMITROV, Boyan; BALIKOVA, Irina; FRYNS, Jean-Pierre et al.Journal of medical genetics. 2011, Vol 48, Num 2, pp 98-104, issn 0022-2593, 7 p.Article

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disabilityMORENO-DE-LUCA, Andres; HELMERS, Sandra L; HUI MAO et al.Journal of medical genetics. 2011, Vol 48, Num 2, pp 141-144, issn 0022-2593, 4 p.Article

CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTRSHERIDAN, Molly B; HEFIFERON, Timothy W; NULANG WANG et al.Journal of medical genetics. 2011, Vol 48, Num 4, pp 235-241, issn 0022-2593, 7 p.Article

Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repairBRADFORD, Porcia T; GOLDSTEIN, Alisa M; EMMERT, Steffen et al.Journal of medical genetics. 2011, Vol 48, Num 3, pp 168-176, issn 0022-2593, 9 p.Article

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