Jasmin Blatterer - Concepedia

Author

Jasmin Blatterer

Also Known As

J. Blatterer, Jasmin Blatterer

Publications

192

Citations

H-Index

Concepts

All Affiliations

Jasmin Blatterer is an author at Medical University of Graz specializing in genetics, neuropathology, and neurogenetics.

#	Concept	H-Index	Publications	Citations
1	Medicine	1	1	44
2	Pathology	1	1	44
3	Genetics	1	1	44
4	Neuropathology	1	1	44
5	Neurogenetics	1	1	44

Jasmin Blatterer

Publications

164

Citations

H-Index

Page 1

	Year	Citations
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency Sarah Verheyen, Jasmin Blatterer, Michael R. Speicher, Journal of Medical Genetics	2021	72
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy Norine Voisin, Rhonda E. Schnur, Sofia Douzgou, The American Journal of Human Genetics Epileptic EncephalopathyMendelian DisorderGenetic DisorderGeneticsPathology	2021	44
Biallelic truncating variants in <i>ATP9A</i> cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive Guido Vogt, Sarah Verheyen, Sarina Schwartzmann, Journal of Medical Genetics	2021	23
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family Muhammad Muzammal, Muhammad Ali, Beatrice A. Brugger, Metabolic Brain Disease	2021	13
Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in <i>BBS9</i> gene Muhammad Muzammal, Muhammad Zubair, Sophie Bierbaumer, Molecular Genetics & Genomic Medicine	2019	12

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