Nicolai Kohlschmidt - Concepedia

Author

Nicolai Kohlschmidt

Johannes Gutenberg University Mainz ORCID

Also Known As

Kohlschmidt, Nicolai, N Kohlschmidt, N. Kohlschmidt, Nicolai Kohlschmidt

Publications

1.4K

Citations

H-Index

Concepts

All Affiliations

Johannes Gutenberg University Mainz University of Duisburg-Essen Leibniz Institute for Analytical Sciences - ISAS University of Bonn Children's Hospital of Eastern Ontario

About

Nicolai Kohlschmidt is an author at Johannes Gutenberg University Mainz specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	614
2	Public Health	2	2	137
3	Engineering	1	1	16
4	Natural Sciences	1	1	16
5	Biochemistry	1	1	16

Nicolai Kohlschmidt

Publications

1.3K

Citations

H-Index

Page 1

	Year	Citations
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome Mira Kyttälä, Jonna Tallila, Riitta Salonen, Nature Genetics Signal TransductionDevelopmental BiologyMendelian DisorderGenetic DisorderMeckel Syndrome	2006	252
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes Christian P. Kratz, Lude Franke, Harm Peters, British Journal of Cancer	2015	207
Linkage disequilibrium of MTHFR genotypes 677C/T-1298A/C in the German population and association studies in probands with neural tube defects(NTD) Karolin Stegmann, Andreas Ziegler, Ernestine T. K. M. Ngo, American Journal of Medical Genetics GeneticsGenetic EpidemiologyHuman PolymorphismMthfr GeneGenome-wide Association Study	1999	125
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity ofMCCA andMCCB mutations and impact on risk assessment Sonja C. Stadler, Roman Polanetz, Esther M. Maier, Human Mutation	2006	89
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex M. T. Romano, Aylar Tafazzoli, Maximilian Mattern, The American Journal of Human Genetics Bi-allelic MutationsAllelic VariantMendelian DisorderEncoding Lanosterol SynthaseGenetic Disorder	2018	76
Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat‐like clinical phenotype Ulrich Zechner, Nicolai Kohlschmidt, Gabriele Rittner, Clinical Genetics	2009	56
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment E. Schneider, Tina Märker, Angelika Daser, Human Molecular Genetics	2008	55
Clinical presentation and proteomic signature of patients with <i>TANGO2</i> mutations Nadja Mingirulli, Angela Pyle, Denisa Hathazi, Journal of Inherited Metabolic Disease	2019	55
Monozygotic twins discordant for constitutive<i>BRCA1</i>promoter methylation, childhood cancer and secondary cancer Danuta Galetzka, T. Hansmann, Nady El Hajj, Epigenetics Epigenetic ChangeGeneticsPathologyMolecular GeneticsInactivated Brca1 Allele	2012	51
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study Sümeyye Cöktü, Claudia Spix, Melanie Kaiser, British Journal of Cancer	2020	50

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