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Isolde Schreyer | Researchclopedia

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Isolde Schreyer

Institute of Human Genetics

28

Works

687

Citations

12

h-index

12

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics Chromosomal and Genetic Variations

Affiliations

Klinik und Poliklinik für Kinder- und Jugendmedizin2008–2008

Center for Human Genetics2017–2017

Praxis für Humangenetik Tübingen2018–2018

Institute of Human Genetics2007–2025

Jena University Hospital2013–2020

Top Works

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

Heike Starke,Angela Nietzel,et al.

2003162 citations

Genomics and Chromatin Dynamics

Fetal and Pediatric Neurological Disorders

47 patients with FLNA associated periventricular nodular heterotopia

Max Lange,Burkhard S. Kasper,et al.

2015105 citations

SCA2 trinucleotide expansion in German SCA patients

Olaf Rieß,Franco Laccone,et al.

199788 citations

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

Thomas Liehr,Nicolino Acquarola,et al.

201753 citations

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,et al.

200853 citations

Heteromorphic variants of chromosome 9

Nadezda Kosyakova,Ani Grigorian,et al.

201348 citations

Location and type of mutation in the <i>LIS1</i> gene do not predict phenotypic severity

G. Uyanık,Déborah Morris-Rosendahl,et al.

200745 citations

Forty-eight new cases with infertility due to balanced chromosomal rearrangements: Detailed molecular cytogenetic analysis of the 90 involved breakpoints

Marina Manvelyan,Isolde Schreyer,et al.

200735 citations

Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8

Heike Starke,Isolde Schreyer,et al.

199920 citations