@article {Varret:January 2008:0009-9163:1, author = "Varret,", author = "Abifadel,", author = "Rabes,", author = "Boileau,", title = "Genetic heterogeneity of autosomal dominant hypercholesterolemia", journal = "Clinical Genetics", volume = "73", year = "January 2008", pages = "1-13(13)", url = {http://www.ingentaconnect.com/content/mksg/cge/2008/00000073/00000001/art00001" doi = "doi:10.1111/j.1399-0004.2007.00915.x" } @article {Petersen:January 2008:0009-9163:14, author = "Petersen,", author = "Wang,", author = "Willems,", title = "Sex-linked deafness", journal = "Clinical Genetics", volume = "73", year = "January 2008", pages = "14-23(10)", url = {http://www.ingentaconnect.com/content/mksg/cge/2008/00000073/00000001/art00002" doi = "doi:10.1111/j.1399-0004.2007.00913.x" } @article {Alman:January 2008:0009-9163:24, author = "Alman,", title = "Skeletal dysplasias and the growth plate", journal = "Clinical Genetics", volume = "73", year = "January 2008", pages = "24-30(7)", url = {http://www.ingentaconnect.com/content/mksg/cge/2008/00000073/00000001/art00003" doi = "doi:10.1111/j.1399-0004.2007.00933.x" } @article {Young:January 2008:0009-9163:31, author = "Young,", title = "A life without pain? Hedonists take note", journal = "Clinical Genetics", volume = "73", year = "January 2008", pages = "31-33(3)", url = {http://www.ingentaconnect.com/content/mksg/cge/2008/00000073/00000001/art00004" doi = "doi:10.1111/j.1399-0004.2007.00921.x" } @article {Young:January 2008:0009-9163:34, author = "Young,", title = "When adaptive processes go awry: gain-of-function in SCN9A", journal = "Clinical Genetics", volume = "73", year = "January 2008", pages = "34-36(3)", url = {http://www.ingentaconnect.com/content/mksg/cge/2008/00000073/00000001/art00005" doi = "doi:10.1111/j.1399-0004.2007.00922.x" } @article {Castro:January 2008:0009-9163:37, author = "Castro,", author = "Nunes,", author = "de Vries,", author = "Lemos,", author = "Vanmolkot,", author = "van den Heuvel,", author = "Temudo,", author = "Barros,", author = "Sequeiros,", author = "Frants,", author = "Koenderink,", author = "Pereira-Monteiro,", author = "van den Maagdenberg,", title = "Two novel functional mutations in the Na,K-ATPase 2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes", journal = "Clinical Genetics", volume = "73", year = "January 2008", pages = "37-43(7)", url = {http://www.ingentaconnect.com/content/mksg/cge/2008/00000073/00000001/art00006" doi = "doi:10.1111/j.1399-0004.2007.00918.x" } @article {Davidsson:January 2008:0009-9163:44, author = "Davidsson,", author = "Collin,", author = "Oreberg,", author = "Gisselsson,", title = "Array-based genotypephenotype correlation in a case of supernumerary ring chromosome 12", journal = "Clinical Genetics", volume = "73", year = "January 2008", pages = "44-49(6)", url = {http://www.ingentaconnect.com/content/mksg/cge/2008/00000073/00000001/art00007" doi = "doi:10.1111/j.1399-0004.2007.00917.x" } @article {Labay:January 2008:0009-9163:50, author = "Labay,", author = "Garrido,", author = "Madeo,", author = "Nance,", author = "Friedman,", author = "del Castillo,", author = "Griffith,", title = "Haplogroup analysis supports a pathogenic role for the 7510TC mutation of mitochondrial tRNASer(UCN) in sensorineural hearing loss", journal = "Clinical Genetics", volume = "73", year = "January 2008", pages = "50-54(5)", url = {http://www.ingentaconnect.com/content/mksg/cge/2008/00000073/00000001/art00008" doi = "doi:10.1111/j.1399-0004.2007.00925.x" } @article {Ashworth:January 2008:0009-9163:55, author = "Ashworth,", author = "Smyth,", author = "Pendleton,", author = "Horan,", author = "Payton,", author = "Worthington,", author = "Ollier,", author = "Ashcroft,", title = "Polymorphisms spanning the 0N exon and promoter of the estrogen receptor-beta (ER) gene ESR2 are associated with venous ulceration", journal = "Clinical Genetics", volume = "73", year = "January 2008", pages = "55-61(7)", url = {http://www.ingentaconnect.com/content/mksg/cge/2008/00000073/00000001/art00009" doi = "doi:10.1111/j.1399-0004.2007.00927.x" } @article {Schulz:January 2008:0009-9163:62, author = "Schulz,", author = "Albrecht,", author = "Arici,", author = "van der Burgt,", author = "Buske,", author = "Gillessen-Kaesbach,", author = "Heller,", author = "Horn,", author = "Hubner,", author = "Korenke,", author = "Konig,", author = "Kress,", author = "Kruger,", author = "Meinecke,", author = "Mucke,", author = "Plecko,", author = "Rossier,", author = "Schinzel,", author = "Schulze,", author = "Seemanova,", author = "Seidel,", author = "Spranger,", author = "Tuysuz,", author = "Uhrig,", author = "Wieczorek,", author = "Kutsche,", author = "Zenker,", title = "Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome", journal = "Clinical Genetics", volume = "73", year = "January 2008", pages = "62-70(9)", url = {http://www.ingentaconnect.com/content/mksg/cge/2008/00000073/00000001/art00010" doi = "doi:10.1111/j.1399-0004.2007.00931.x" } @article {Kontaraki:January 2008:0009-9163:71, author = "Kontaraki,", author = "Parthenakis,", author = "Patrianakos,", author = "Karalis,", author = "Vardas,", title = "Myocardin gene regulatory variants as surrogate markers of cardiac hypertrophy study in a genetically homogeneous population", journal = "Clinical Genetics", volume = "73", year = "January 2008", pages = "71-78(8)", url = {http://www.ingentaconnect.com/content/mksg/cge/2008/00000073/00000001/art00011" doi = "doi:10.1111/j.1399-0004.2007.00932.x" } @article {Eggermann:January 2008:0009-9163:79, author = "Eggermann,", author = "Schonherr,", author = "Buiting,", author = "Ranke,", author = "Wollmann,", author = "Binder,", title = "Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in SilverRussell syndrome", journal = "Clinical Genetics", volume = "73", year = "January 2008", pages = "79-84(6)", url = {http://www.ingentaconnect.com/content/mksg/cge/2008/00000073/00000001/art00012" doi = "doi:10.1111/j.1399-0004.2007.00930.x" } @article {:January 2008:0009-9163:85, title = "De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma", journal = "Clinical Genetics", volume = "73", year = "January 2008", pages = "85-88(4)", url = {http://www.ingentaconnect.com/content/mksg/cge/2008/00000073/00000001/art00013" doi = "doi:10.1111/j.1399-0004.2007.00914.x" } @article {:January 2008:0009-9163:89, title = "Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene", journal = "Clinical Genetics", volume = "73", year = "January 2008", pages = "89-91(3)", url = {http://www.ingentaconnect.com/content/mksg/cge/2008/00000073/00000001/art00014" doi = "doi:10.1111/j.1399-0004.2007.00916.x" } @article {:January 2008:0009-9163:92, title = "Analysis of the HFE gene (H63D and C282Y) mutations in patients with iron overload, family members and controls from Antioquia, Northwest Colombia", journal = "Clinical Genetics", volume = "73", year = "January 2008", pages = "92-93(2)", url = {http://www.ingentaconnect.com/content/mksg/cge/2008/00000073/00000001/art00015" doi = "doi:10.1111/j.1399-0004.2007.00919.x" } @article {:January 2008:0009-9163:94, title = "Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism", journal = "Clinical Genetics", volume = "73", year = "January 2008", pages = "94-96(3)", url = {http://www.ingentaconnect.com/content/mksg/cge/2008/00000073/00000001/art00016" doi = "doi:10.1111/j.1399-0004.2007.00920.x" } @article {:January 2008:0009-9163:97, title = "A novel arginine-to-cysteine substitution in the triple helical region of the 1(I) collagen chain in a family with an osteogenesis imperfecta/EhlersDanlos phenotype", journal = "Clinical Genetics", volume = "73", year = "January 2008", pages = "97-101(5)", url = {http://www.ingentaconnect.com/content/mksg/cge/2008/00000073/00000001/art00017" doi = "doi:10.1111/j.1399-0004.2007.00926.x" }