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Zeitschriftenartikel (119)
21.
Zeitschriftenartikel
19 (1), S. 115 - 7 (2011)
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. Eur J Hum Genet 22.
Zeitschriftenartikel
32 (12), S. 1427 - 35 (2011)
High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. Hum Mutat 23.
Zeitschriftenartikel
129 (2), S. 141 - 8 (2011)
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet 24.
Zeitschriftenartikel
16 (5), S. 491 - 503 (2011)
Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree. Mol Psychiatry 25.
Zeitschriftenartikel
19 (9), S. 947 - 58 (2011)
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions. Eur J Hum Genet 26.
Zeitschriftenartikel
175 (6), S. 700 - 7 (2011)
Acute high-dose X-radiation-induced genomic changes in A549 cells. Radiat Res 27.
Zeitschriftenartikel
478 (7367), S. 57 - 63 (2011)
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 28.
Zeitschriftenartikel
89 (1), S. 176 - 82 (2011)
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet 29.
Zeitschriftenartikel
20 (13), S. 2585 - 90 (2011)
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. Hum Mol Genet 30.
Zeitschriftenartikel
59 (3), S. 549 - 55 (2011)
Chromosomal aberrations as detected by array comparative genomic hybridization in early low-grade intraepithelial neoplasias of the breast. Histopathology 31.
Zeitschriftenartikel
208 (8), S. 1585 - 93 (2011)
Genomic loss of the putative tumor suppressor gene E2A in human lymphoma. J Exp Med 32.
Zeitschriftenartikel
155A (11), S. 2771 - 4 (2011)
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. Am J Med Genet A 33.
Zeitschriftenartikel
129 (2), S. 141 - 148 (2010)
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 nvel loci and several mutation hotspots. Human Genetics 34.
Zeitschriftenartikel
87 (4), S. 465 - 479 (2010)
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. American Society of Human Genetics 35.
Zeitschriftenartikel
Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1. Learning Disabilities, S. 125 - 133 (2010)
36.
Zeitschriftenartikel
152A (10), S. 2651 - 2655 (2010)
11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features. American Journal of Medical Genetics. Part A. 37.
Zeitschriftenartikel
19, S. 115 - 117 (2010)
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. European Journal of Human Genetics 38.
Zeitschriftenartikel
20 (9), S. 1198 - 1206 (2010)
Gene amplification as double minutes or homogeneously staining regions in solid tumors: Origin and structure. Genome Research 39.
Zeitschriftenartikel
95 (7), S. 3446 - 3452 (2010)
Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. The Journal of Clinical Endocrinology & Metabolism 40.
Zeitschriftenartikel
152A (7), S. 1724 - 1729 (2010)
Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome. American Journal of Medical Genetics Part A