Clinical and molecular analysis of RASopathies in a group of Turkish patientsIMSEK-KIPER, Pö S; ALANAY, Y; GÜLHAN, B et al.Clinical genetics. 2013, Vol 83, Num 2, pp 181-186, issn 0009-9163, 6 p.Article

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patientsTSURUSAKI, Y; KOSHO, T; HATASAKI, K et al.Clinical genetics. 2013, Vol 83, Num 2, pp 135-144, issn 0009-9163, 10 p.Article

PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus―Merzbacher disease in a girlFONSECA, Acs; BONALDI, A; COSTA, S. S et al.Clinical genetics. 2013, Vol 83, Num 2, pp 169-174, issn 0009-9163, 6 p.Article

The developmental genetics of Hirschsprung's diseaseBERGERON, K.-F; SILVERSIDES, D. W; PILON, N et al.Clinical genetics. 2013, Vol 83, Num 1, pp 15-22, issn 0009-9163, 8 p.Article

Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disabilityQIAO, Y; TYSON, C; LIU, X et al.Clinical genetics. 2013, Vol 83, Num 2, pp 145-154, issn 0009-9163, 10 p.Article

A novel mutation in PRDM5 in brittle cornea syndromeALDAHMESH, M. A; MOHAMED, J. Y; ALKURAYA, F. S et al.Clinical genetics. 2012, Vol 81, Num 2, pp 198-199, issn 0009-9163, 2 p.Article

Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?BERTOLA, D. R; PEREIRA, A. C; MESSIAEN, L. M et al.Clinical genetics. 2012, Vol 81, Num 6, pp 595-597, issn 0009-9163, 3 p.Article

Origins of the elephant man: mosaic somatic mutations cause Proteus syndromeDE SOUZA, Rag.Clinical genetics. 2012, Vol 81, Num 2, pp 123-124, issn 0009-9163, 2 p.Article

Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletionALLEN, N. M; O'HICI, B; ANDERSON, G et al.Clinical genetics. 2012, Vol 81, Num 6, pp 602-604, issn 0009-9163, 3 p.Article

A founder BRCA2 mutation in non-Afrikaner breast cancer patients of the Western Cape of South AfricaVAN DER MERWE, N. C; HAMEL, N; SCHNEIDER, S.-R et al.Clinical genetics. 2012, Vol 81, Num 2, pp 179-184, issn 0009-9163, 6 p.Article

Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosisPIACERI, I; DEL MASTIO, M; TEDDE, A et al.Clinical genetics. 2012, Vol 82, Num 1, pp 83-87, issn 0009-9163, 5 p.Article

DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech populationSAFKA BROZKOVA, D; LASTUVKOVA, J; STEPANKOVA, H et al.Clinical genetics. 2012, Vol 82, Num 6, pp 579-582, issn 0009-9163, 4 p.Article

DTC genetic testing: pendulum swings and policy paradoxesCAULFIELD, T.Clinical genetics. 2012, Vol 81, Num 1, pp 4-6, issn 0009-9163, 3 p.Article

Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrixVALLI, M; BARNES, A. M; MARINI, J. C et al.Clinical genetics. 2012, Vol 82, Num 5, pp 453-459, issn 0009-9163, 7 p.Article

Detection of chromosomal aneuploidies in fetal cells isolated from maternal blood using single-chromosome dual-probe FISH analysisCALABRESE, G; BALDI, M; FANTASIA, D et al.Clinical genetics. 2012, Vol 82, Num 2, pp 131-139, issn 0009-9163, 9 p.Article

E-genetics: exploring the acceptability and feasibility of using technology in cancer genetics servicesHILGART, J; HAYWARD, J. A; IREDALE, R et al.Clinical genetics. 2012, Vol 81, Num 6, pp 514-520, issn 0009-9163, 7 p.Article

Ehlers-Danlos arthrochalasia type (VIIA-B) ― expanding the phenotype: from prenatal life through adulthoodM, Klaassensa; REINSTEIN, E; DE PAEPE, A et al.Clinical genetics. 2012, Vol 82, Num 2, pp 121-130, issn 0009-9163, 10 p.Article

Epigenetics of colorectal cancer : EPIGENETICS AND MEDICAL GENETICS - UNITED BY PURPOSEMIGHELI, F; MIGLIORE, L.Clinical genetics. 2012, Vol 81, Num 4, pp 312-318, issn 0009-9163, 7 p.Article

Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindredsWENTINK, M; NELLIST, M; SMEETS, E et al.Clinical genetics. 2012, Vol 81, Num 5, pp 453-461, issn 0009-9163, 9 p.Article

High prevalence of founder mutations of the succinate dehydrogenase genes in the NetherlandsHENSEN, E. F; DUINEN, Nvan; BAYLEY, J. P et al.Clinical genetics. 2012, Vol 81, Num 3, pp 284-288, issn 0009-9163, 5 p.Article

Human Mendelian pain disorders: a key to discovery and validation of novel analgesicsGOLDBERG, Y. P; PIMSTONE, S. N; NAMDARI, R et al.Clinical genetics. 2012, Vol 82, Num 4, pp 367-373, issn 0009-9163, 7 p.Article

Impact of colonoscopic screening in male and female Lynch syndrome carriers with an HSH2 mutationSTUCKLESS, S; GREEN, J. S; MORGENSTERN, M et al.Clinical genetics. 2012, Vol 82, Num 5, pp 439-445, issn 0009-9163, 7 p.Article

Integrating genomic and epigenomic information: a promising strategy for identifying functional DNA variants of human disease : EPIGENETICS AND MEDICAL GENETICS - UNITED BY PURPOSEZAINA, S; LUND, G.Clinical genetics. 2012, Vol 81, Num 4, pp 334-340, issn 0009-9163, 7 p.Article

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patientsCOUTINHO, M. F; LACERDA, L; MACEDO-RIBEIRO, S et al.Clinical genetics. 2012, Vol 81, Num 4, pp 379-393, issn 0009-9163, 15 p.Article

Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technologyCOTTRELL, C. E; MENDELL, J; HART-KOTHARI, M et al.Clinical genetics. 2012, Vol 81, Num 6, pp 578-583, issn 0009-9163, 6 p.Article