Graul-Neumann, LM; Bach, A; Albani, M et al.
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding.Am J Med Genet A. Bd. 149A. H. 7. 2009 S. 1487-93
Haensel, J; Kohlschmidt, N; Pitz, S et al.
Case Report Supporting That the Barber-Say and Ablepharon Macrostomia Syndromes Could Represent One DisorderAm J Med Genet. Bd. 149. 2009 S. 2236-2240
Zechner, U; Nolte, J; Wolf, M et al.
Comparative methylation profiles and telomerase biology of mouse multipotent adult germline stem cells and embryonic stem cells.Mol Hum Reprod. Bd. 15. H. 6. 2009 S. 345-53
Hansmann, T; Nanda, I; Volobouev, V et al.
Cross-Species Chromosome Painting Corroborates Microchromosome Fusion during Karyotype Evolution of BirdsCYTOGENETIC AND GENOME RESEARCH. Bd. 126. H. 3. 2009 S. 281-304
Farcas, R; Schneider, E; Frauenknecht, K et al.
Differences in DNA methylation patterns and expression of the CCRK gene in human and nonhuman primate cortices.Mol Biol Evol. Bd. 26. H. 6. 2009 S. 1379-89
Zechner, U; Kohlschmidt, N; Rittner, G et al.
Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.Clin Genet. Bd. 75. H. 3. 2009 S. 251-8
Zechner, U; Kohlschmidt, N; Kempf, O et al.
Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.Eur J Med Genet. Bd. 52. H. 5. 2009 S. 306-10
Roos, A; Tonnies, H; Goecke, T et al.
First case of a constitutional intrachromosomal triplication 1q43 -> q44: molecular- and cytogenetic investigations and characterization of the phenotypeCHROMOSOME RESEARCH. Bd. 17. 2009 S. 48-49
Barber, TD; Garcia, NM; Henkemeyer, M et al.
GENETIC MAPPING OF THE CRITICAL REGION FOR GENITAL AND ANORECTAL MALFORMATIONS ON HUMAN CHROMOSOME 13JOURNAL OF UROLOGY. Bd. 181. H. 4. 2009 S. 258-258
Damatova, N; Beyer, V; Galetzka, D et al.
Haploinsufficiency of 16.4 Mb from chromosome 22pter-q11.21 in a girl with unilateral conductive hearing loss.Cytogenet Genome Res. Bd. 125. H. 3. 2009 S. 241-7