Isolde Schreyer

Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification

Heike Starke, Angela Nietzel, Anja Weise et al. · Human Genetics · 2003 · 162 citations

Cytogenetics, Genetics, Statistical Genetics +4

47 patients with FLNA associated periventricular nodular heterotopia

Max Lange, Burkhard S. Kasper, Axel Bohring et al. · Orphanet Journal of Rare Diseases · 2015 · 105 citations · Full text

SCA2 trinucleotide expansion in German SCA patients

Franco Laccone, Suzana Gispert, Lüdger Schöls et al. · Neurogenetics · 1997 · 88 citations

Sca2 Trinucleotide Expansion, Genetic Disorder, Genetics +2

Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature

Marina Manvelyan, Mariluce Riegel, Mònica Santos et al. · International Journal of Molecular Medicine · 2008 · 53 citations · Full text

Genetic Testing, Fertility, Cytogenetics +20

Next generation phenotyping in Emanuel and Pallister‐Killian syndrome using computer‐aided facial dysmorphology analysis of <scp>2D</scp> photos

Thomas Liehr, Nicolino Acquarola, K. Pyle et al. · Clinical Genetics · 2017 · 53 citations