Karl Sperling
Berlin, BE, Germany
Last Updated: 09/26/2026
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Found 23 publications
A homozygous lamin B receptor variant resulting in Pelger-Huët anomaly without skeletal dysplasia.
Journal: Nucleus (Austin, Tex.)
Published: August 20, 2026
50 Jahre (und mehr) Humangenetik/Medizinische Genetik in Berlin.
Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
Published: July 08, 2026
Familial Robertsonian Translocation, rob(14;21), with High Risk for Down Syndrome.
Journal: Cytogenetic and genome research
Published: January 23, 2026
A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes.
Journal: Molecular cytogenetics
Published: February 11, 2025
Evidence for a transgenerational mutational signature from ionizing radiation exposure in humans.
Journal: Scientific reports
Published: May 24, 2024
Population monitoring of trisomy 21: problems and approaches.
Journal: Molecular cytogenetics
Published: December 27, 2022
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
Journal: Human genetics
Published: February 11, 2022
The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation.
Journal: Cancer reports (Hoboken, N.J.)
Published: September 29, 2021
Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA.
Journal: PloS one
Published: June 06, 2018
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation.
Journal: Scientific reports
Published: May 25, 2018
Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.
Journal: Molecular cytogenetics
Published: December 14, 2017
Last Updated: 09/26/2026