Petr Jira - Concepedia

Author

Petr Jira

Also Known As

B Zegers, B. Zegers, Departamentul Genetică Medicală, Universitatea Radboud, Nijmegen, Olanda, P E Jira, P Jira, P. E. JIRA, P. E. Jira, P. Jira, P.E. Jira, Petr E Jira

Publications

1.6K

Citations

H-Index

Concepts

All Affiliations

Radboud University Nijmegen Jeroen Bosch Ziekenhuis Radboud University Medical Center University Medical Center Groningen University of Amsterdam

About

Petr Jira is an author at Radboud University Nijmegen specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	484
2	Molecular Genetics	4	4	417
3	Genetic Medicine	1	1	29
4	Neurology	1	1	32
5	Neuroscience	1	1	32

Petr Jira

Publications

1.4K

Citations

H-Index

Page 1

	Year	Citations
Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene Hans R. Waterham, Frits A. Wijburg, Raoul C. M. Hennekam, The American Journal of Human Genetics Mendelian DisorderSmith-lemli-opitz Syndrome IsGenetic DisorderGeneticsInherited Metabolic Disease	1998	294
Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency Nils Krone, Nicole Reisch, Jan Idkowiak, The Journal of Clinical Endocrinology & Metabolism	2011	163
Beneficial Effects of Growth Hormone Treatment on Cognition in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study Elbrich P. C. Siemensma, Roderick F. A. Tummers-de Lind van Wijngaarden, Dederieke A. M. Festen, The Journal of Clinical Endocrinology & Metabolism	2012	140
Eight Years of Growth Hormone Treatment in Children With Prader-Willi Syndrome: Maintaining the Positive Effects Nienke Bakker, Renske Kuppens, Elbrich P. C. Siemensma, The Journal of Clinical Endocrinology & Metabolism	2013	137
Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome Petr Jira, Ron A. Wevers, Jan de Jong, Journal of Lipid Research	2000	114
Efficacy and Safety of Long-Term Continuous Growth Hormone Treatment in Children with Prader-Willi Syndrome Roderick F. A. de Lind van Wijngaarden, Elbrich P. C. Siemensma, Dederieke A. M. Festen, The Journal of Clinical Endocrinology & Metabolism	2009	110
Biochemical diagnosis of Antley–Bixler syndrome by steroid analysis Cedric Shackleton, Josep Marcos, Maria Szarras‐Czapnik, American Journal of Medical Genetics Part A	2004	88
The phenotype of recurrent 10q22q23 deletions and duplications Bregje W.M. van Bon, Jorune Balciuniene, Gary Fruhman, European Journal of Human Genetics Genetic DisorderGeneticsRecurrent 10Q22q23Molecular GeneticsGenomics	2011	64
Bone Mineral Density in Children and Adolescents With Prader-Willi Syndrome: A Longitudinal Study During Puberty and 9 Years of Growth Hormone Treatment Nienke Bakker, Renske Kuppens, Elbrich P. C. Siemensma, The Journal of Clinical Endocrinology & Metabolism	2015	47
Primrose syndrome: Characterization of the phenotype in 42 patients Daniela Melis, Daniel R. Carvalho, Tina Barbaro‐Dieber, Clinical Genetics Clinical DisordersGenetic DisorderCorticobasal DegenerationInherited Metabolic DiseaseGenetic Epidemiology	2020	32

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