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Zeitschriftenartikel (172)
161.
Zeitschriftenartikel
117A (3), S. 236 - 244 (2003)
Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region. American Journal of Medical Genetics Part A 162.
Zeitschriftenartikel
112 (3), S. 249 - 254 (2003)
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. Human Genetics 163.
Zeitschriftenartikel
11 (2), S. 138 - 144 (2003)
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. European Journal of Human Genetics 164.
Zeitschriftenartikel
11 (2), S. 201 - 206 (2003)
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutanesous syndrome. European Journal of Human Genetics 165.
Zeitschriftenartikel
12 (1), S. 61 - 69 (2003)
Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly. Human Molecular Genetics 166.
Zeitschriftenartikel
71 (6), S. 1450 - 1455 (2002)
Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency. American Journal of Human Genetics 167.
Zeitschriftenartikel
39 (6), S. 391 - 399 (2002)
A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation. Journal of Medical Genetics 168.
Zeitschriftenartikel
10 (Suppl. Suppl. 1), S. 233 - 234 (2002)
Epsilon-sarcoglycan (SGCE), the gene mutated in myoclonus-dystonia syndrome, is imprinted. European Journal of Human Genetics 169.
Zeitschriftenartikel
11 (8), S. 981 - 991 (2002)
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Human Molecular Genetics 170.
Zeitschriftenartikel
288 (1-2), S. 179 - 185 (2002)
Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13–14 (IBD2). Gene 171.
Zeitschriftenartikel
Copy and paste: the impact of a new non-L1 retroposon on the gonosomal heterochromatin of Microtus agrestis. Karl Fredga dedication volume, S. 179 - 185 (2002)
172.
Zeitschriftenartikel
107 (1), S. 81 - 83 (2002)
In-frame deletion in MECP2 causes mild nonspecific mental retardation. American Journal of Medical Genetics