Anne Slavotinek
5PUBLICATIONS
11CO-AUTHORS
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Publications (5)
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|Nov 14, 2025
A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial Asymmetry.Somin Jo, Christine Lee, Lori White
|Nov 14, 2025
Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.Maria K Haanpää, Chad R Haldeman-Englert, Marja Hietala
|Nov 07, 2025
Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome.Iftekhar A Showpnil, Neta Feinstein-Goren, Lior Greenbaum
|Sep 19, 2025
Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1): A Case of ADAM17 Homozygous Mutation.Hannah R Chang, Megan Bannon, Chloe Opper
|Sep 11, 2025
Diagnostic Yield After Postnatal Reanalysis of Prenatal Exome Sequencing Results.Kate Swanson, Ugur Hodoglugil, Teresa N Sparks
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Frequent Collaborators
1 joint publications
Kate Swanson
1 joint publications
Teresa N Sparks
1 joint publications
Eniolami Dosunmu
1 joint publications
Hannah R Chang
1 joint publications
Mariam Iqneibi
1 joint publications
Catherine Bridges
1 joint publications
Lior Greenbaum
1 joint publications
Daniel C Koboldt
1 joint publications
Ben Pode-Shakked
1 joint publications
Amelle Shillington
