Autosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36Ilefs56SIMMER, S. G; ESTRELLA, Nmrp; MILKOVICH, R. N et al.Clinical genetics. 2013, Vol 83, Num 2, pp 195-197, issn 0009-9163, 3 p.Article

Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the NetherlandsVAN RIJ, M C; DE DIE-SMULDERS, C.E.M; BIJLSMA, E. K et al.Clinical genetics. 2013, Vol 83, Num 2, pp 118-124, issn 0009-9163, 7 p.Article

Integrating next-generation sequencing into the diagnostic testing of inherited cancer predispositionKU, C. S; COOPER, D. N; LACOPETTA, B et al.Clinical genetics. 2013, Vol 83, Num 1, pp 2-6, issn 0009-9163, 5 p.Article

Aarskog-Scott syndrome: first report of a duplication in the FGD1 geneRONCE, N; MAYSTADT, I; HUBERT, C et al.Clinical genetics. 2012, Vol 82, Num 1, pp 93-96, issn 0009-9163, 4 p.Article

Association of genomic deletions in the STXBP1 gene with Ohtahara syndromeSAITSU, H; KATO, M; DOI, H et al.Clinical genetics. 2012, Vol 81, Num 4, pp 399-402, issn 0009-9163, 4 p.Article

Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish populationGARCIA-RODRIGUEZ, B; ALFONSO, P; MALLEN, M et al.Clinical genetics. 2012, Vol 81, Num 5, pp 495-497, issn 0009-9163, 3 p.Article

High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in TurkeyKALB, S; CAGLAYAN, A. O; ZSCHOCKE, J et al.Clinical genetics. 2012, Vol 81, Num 6, pp 598-601, issn 0009-9163, 4 p.Article

Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural regionPROKOFYEV, D; BOGDANOVA, N; BERMISHEVA, M et al.Clinical genetics. 2012, Vol 82, Num 1, pp 100-101, issn 0009-9163, 2 p.Article

A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndromeVILAIN, C; RENS, C; AEBY, A et al.Clinical genetics. 2012, Vol 82, Num 3, pp 264-270, issn 0009-9163, 7 p.Article

A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2CHOUERY, E; ABOU-GHOCH, J; DEBO, G et al.Clinical genetics. 2012, Vol 82, Num 5, pp 489-493, issn 0009-9163, 5 p.Article

A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing lossYARIZ, K. O; WALSH, T; AKAY, H et al.Clinical genetics. 2012, Vol 81, Num 3, pp 289-293, issn 0009-9163, 5 p.Article

Clinical findings in patients with GLI2 mutations ― phenotypic variabilityBERTOLACINI, Cdp; RIBEIRO-BICUDO, L. A; PETRIN, A et al.Clinical genetics. 2012, Vol 81, Num 1, pp 70-75, issn 0009-9163, 6 p.Article

Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiencySEBRO, R; LEVY, H; SCHNECK, K et al.Clinical genetics. 2012, Vol 82, Num 6, pp 546-551, issn 0009-9163, 6 p.Article

De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancerSHAH, M. A; SALO-MULLEN, E; STADLER, Z et al.Clinical genetics. 2012, Vol 82, Num 3, pp 283-287, issn 0009-9163, 5 p.Article

Epigenetic modifications in cancer : EPIGENETICS AND MEDICAL GENETICS - UNITED BY PURPOSEKANWAL, R; GUPTA, S.Clinical genetics. 2012, Vol 81, Num 4, pp 303-311, issn 0009-9163, 9 p.Article

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamicsDE FILIPPIS, R; PANCRAZI, L; MENCARELLI, M. A et al.Clinical genetics. 2012, Vol 82, Num 4, pp 395-403, issn 0009-9163, 9 p.Article

FOXG1 mutations in Japanese patients with the congenital variant of Rett syndromeTAKAHASHI, S; MATSUMOTO, N; OKAYAMA, A et al.Clinical genetics. 2012, Vol 82, Num 6, pp 569-573, issn 0009-9163, 5 p.Article

Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome SurveyRAMASWAMI, U; PARINI, R; PINTOS-MORELL, G et al.Clinical genetics. 2012, Vol 81, Num 5, pp 485-490, issn 0009-9163, 6 p.Article

First HPSE2 missense mutation in urofacial syndromeMAHMOOD, S; BEETZ, C; RANA, S et al.Clinical genetics. 2012, Vol 81, Num 1, pp 88-92, issn 0009-9163, 5 p.Article

Genetic testing and screening of individuals at risk of NF2EVANS, D. G; RAYMOND, F. L; BARWELL, J. G et al.Clinical genetics. 2012, Vol 82, Num 5, pp 416-424, issn 0009-9163, 9 p.Article

Genotype-phenotype correlation in colorectal polyposisNEWTON, K. F; MALLINSON, Ekl; BOWEN, J et al.Clinical genetics. 2012, Vol 81, Num 6, pp 521-531, issn 0009-9163, 11 p.Article

Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case reportROUDGARIAB, H; FARNDON, P. A; MURRAY, A. D et al.Clinical genetics. 2012, Vol 82, Num 1, pp 71-76, issn 0009-9163, 6 p.Article

Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screeningSARAFOGLOU, K; LORENTZ, C. P; OTTEN, N et al.Clinical genetics. 2012, Vol 82, Num 1, pp 64-70, issn 0009-9163, 7 p.Article

Next-generation sequencing: ready for the clinics?DESAI, A. N; JERE, A.Clinical genetics. 2012, Vol 81, Num 6, pp 503-510, issn 0009-9163, 8 p.Article

Parent of origin effectsGUILMATRE, A; SHARP, A. J.Clinical genetics. 2012, Vol 81, Num 3, pp 201-209, issn 0009-9163, 9 p.Article