B. Mikat

发表

Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing

D. Timmann, D. Wieczorek, G. Gillessen‐kaesbach, 2015, Cerebellum & Ataxias.

ANKRD11 variants: KBG syndrome and beyond

E. Zackai, H. Hakonarson, D. Horn, 2021, Clinical genetics.

Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis

Quoc Bao Huynh, B. Balliu, Stefan Boehringer, 2018, PeerJ.

Early Detection of Maternal Risk for Preeclampsia

R. Kimmig, A. Gellhaus, B. Mikat, 2012, ISRN obstetrics and gynecology.

βhCG and PAPP-A in First Trimester: Predictive Factors for Preeclampsia?

R. Kimmig, A. Scherag, K. Drommelschmidt, 2012, Hypertension in pregnancy.

Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment

R. Siebert, D. Wieczorek, B. Horsthemke, 2016, Epigenetics.

X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy

D. Wieczorek, D. Schindler, C. Roll, 2016, Clinical dysmorphology.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

K. Devriendt, J. Vermeesch, B. Gener, 2013, Human molecular genetics.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

I. Krantz, V. Lefebvre, C. Depienne, 2020, American journal of human genetics.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Rachel L. Taylor, R. Pfundt, M. Reijnders, 2018, American journal of human genetics.

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

D. Wieczorek, S. Mansour, A. Moore, 2013, European Journal of Human Genetics.

Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing

D. Timmann, D. Wieczorek, K. Bürk, 2015, Cerebellum & Ataxias.