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Human Genetics|May 1, 1996
Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typingT Eggermann, H Engels, B Moskalonek, et al.Human Molecular Genetics|June 22, 2000
Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashionN Blagitko, S Mergenthaler, U Schulz, et al.Annales De Genetique|August 6, 1999
Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literatureT Eggermann, R Schubert, H Engels, et al.Molecular Biology of the Cell|December 10, 1999
Luminal heterodimeric amino acid transporter defective in cystinuriaR Pfeiffer, J Loffing, G Rossier, et al.Journal of Medical Genetics|September 19, 2009
Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndromeS Spengler, N Schönherr, G Binder, et al.Journal of Medical Genetics|July 30, 2008
Congenital heart disease is a feature of severe infantile spinal muscular atrophyS Rudnik-Schöneborn, R Heller, C Berg, et al.Clinical Genetics|September 29, 2009
Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counsellingS Rudnik-Schöneborn, C Berg, K Zerres, et al.Nature Genetics|July 1, 1994
Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cenK Zerres, G Mücher, L Bachner, et al.Clinical Nephrology|May 31, 2002
Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: mutation detection rates and association between variants in SLC7A9 and the diseaseC Schmidt, A Albers, J Tomiuk, et al.Genetic Testing|August 28, 1999
Mutations in the SLC3A1 gene in cystinuric patients: frequencies and identification of a novel mutationA Albers, S Lahme, C Wagner, et al.Pageof 7