Barbara Mikat
Essen, NW, Germany
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Journal: American journal of human genetics
Published: March 13, 2020
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Journal: American journal of human genetics
Published: February 14, 2018
Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment.
Journal: Epigenetics
Published: February 19, 2016
X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy.
Journal: Clinical dysmorphology
Published: December 20, 2015
Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.
Journal: Cerebellum & ataxias
Published: December 02, 2015
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
Journal: European journal of human genetics : EJHG
Published: May 25, 2013
Early detection of maternal risk for preeclampsia.
Journal: ISRN obstetrics and gynecology
Published: April 08, 2012
βhCG and PAPP-A in first trimester: predictive factors for preeclampsia?
Journal: Hypertension in pregnancy
Published: December 14, 2011
Showing 1-10 of 10
Last Updated: 09/26/2026