M. Tuchman - Concepedia

Author

M. Tuchman

National Human Genome Research Institute

Also Known As

L. Caldovic, M. Tuchman, Maya Tuchman

Publications

490

Citations

H-Index

Concepts

All Affiliations

National Human Genome Research Institute University of Alabama at Birmingham University of Minnesota University of Minnesota Medical Center

About

M. Tuchman is an author at National Human Genome Research Institute specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	198
2	Public Health	1	1	10
3	Biology	1	1	10
4	Hepatology	1	1	98
5	Molecular Biology	1	1	18

M. Tuchman

Publications

356

Citations

H-Index

Page 1

	Year	Citations
Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease Meral Gunay‐Aygun, Esperanza Font–Montgomery, Linda Lukose, Clinical Journal of the American Society of Nephrology	2010	127
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis Meral Gunay‐Aygun, M. Tuchman, Esperanza Font–Montgomery, Molecular Genetics and Metabolism Pkhd1 Sequence VariationsHepatologyMendelian DisorderGenetic DisorderMedicine	2009	98
MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome Meral Gunay‐Aygun, Melissa A. Parisi, Dan Doherty, The Journal of Pediatrics UrologyMendelian DisorderJoubert SyndromeMedicineGenetic Disorder	2009	37
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome Wendy Westbroek, M. Tuchman, Bradford Tinloy, Molecular Genetics and Metabolism Mendelian DisorderGenetic DisorderGeneticsPathogenesisGriscelli Syndrome	2008	35
Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35 Marshall Summar, M.J. Dasouki, PR Schofield, Cytogenetic and Genome Research	1995	31
Four New Mutations in the Ornithine Transcarbamylase Gene Orit Reish, Robert Plante, M. Tuchman Biochemical Medicine and Metabolic Biology Somatic VariantCellular EnzymologyOrnithine Transcarbamylase GeneGeneticsMolecular Biology	1993	18
Polymorphisms in the human ornithine transcarbamylase gene useful for allele tracking. Mutations in brief no. 193. Online. Plante Rj, M. Tuchman PubMed Genetic TestingGeneticsHuman PolymorphismCommon PolymorphismsMolecular Genetics	1998	10

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