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Institut für Humangenetik

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  10

Barber, TD; Garcia, NM; Henkemeyer, M et al.

GENETIC MAPPING OF THE CRITICAL REGION FOR GENITAL AND ANORECTAL MALFORMATIONS ON HUMAN CHROMOSOME 13

JOURNAL 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



Wenzel, JJ; Rossmann, H; Fottner, C et al.

Identification and prevention of genotyping errors caused by G-quadruplex- and i-motif-like sequences

Clin Chem. Bd. 55. H. 7. 2009 S. 1361-71



Herlyn, Holger; Zechner, Ulrich; Oswald, Franz et al.

Positive selection at codon 38 of the human kcne1 (= mink) gene and sporadic absence of 38ser-coding mrnas in gly38ser heterozygotes

Bmc evolutionary biology. Bd. 9. London: BioMed Central Ltd 2009 188


Passuello, V; Puhl, AG; Wirth, S et al.

Pregnancy Outcome in Maternal Crigler-Najjar Syndrome Type II: A Case Report and Systematic Review of the Literature

FETAL DIAGNOSIS AND THERAPY. Bd. 26. H. 3. 2009 S. 121-126


Caksen, H; Bartsch, O; Okur, M et al.

RUBINSTEIN-TAYBI SYNDROME AND CREBBP c.201_202delTA MUTATION: A CASE PRESENTING WITH VARICELLA MENINGOENCEPHALITIS

GENETIC COUNSELING. Bd. 20. H. 3. 2009 S. 255-260



Wieczorek, D; Bartsch, O; Lechno, S et al.

Two Adults With Rubinstein-Taybi Syndrome With Mild Mental Retardation, Glaucoma, Normal Growth and Skull Circumference, and Camptodactyly of Third Fingers

AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 149A. H. 12. 2009 S. 2849-2854