Beate Albrecht
Essen, NW, Germany
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 34 publications
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Journal: Clinical genetics
Published: February 25, 2019
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Journal: Human genetics
Published: June 20, 2018
Molecular and clinical studies in 8 patients with Temple syndrome.
Journal: Clinical genetics
Published: January 09, 2018
UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors.
Journal: Cell
Published: December 01, 2017
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Journal: American journal of human genetics
Published: October 04, 2017
The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?
Journal: Molecular genetics & genomic medicine
Published: May 12, 2017
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Journal: Brain : a journal of neurology
Published: January 19, 2017
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.
Journal: European journal of human genetics : EJHG
Published: December 21, 2016
Genetics of intellectual disability in consanguineous families.
Journal: Molecular psychiatry
Published: October 05, 2016
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.
Journal: Human genetics
Published: September 19, 2016
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
Journal: American journal of human genetics
Published: July 24, 2016
Last Updated: 09/26/2026