Alexander Pepler
Tuebingen, BW, Germany
Last Updated: 09/26/2026
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Found 10 publications
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.
Journal: American journal of medical genetics. Part A
Published: January 14, 2025
Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) - the clinical and molecular summary.
Journal: European journal of medical genetics
Published: August 27, 2022
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Journal: American journal of human genetics
Published: November 24, 2021
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.
Journal: Journal of medical genetics
Published: April 24, 2020
NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?
Journal: Molecular syndromology
Published: November 13, 2019
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
Journal: American journal of human genetics
Published: July 01, 2019
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Journal: American journal of human genetics
Published: November 02, 2018
Malta (MYH9 Associated Elastin Aggregation) Syndrome: Germline Variants in MYH9 Cause Rare Sweat Duct Proliferations and Irregular Elastin Aggregations.
Journal: The Journal of investigative dermatology
Published: July 27, 2018
Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.
Journal: Molecular syndromology
Published: July 05, 2018
Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.
Journal: Neuropediatrics
Published: April 16, 2017
Showing 1-10 of 10
Last Updated: 09/26/2026