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Petr E Jira

Observed names: Jira, P.E., P E Jira, P Jira, P. E. JIRA, P. E. Jira, P. Jira, P.E. Jira, Petr E. Jira, Petr Jira
OpenAlex ID: A5025501899
Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene
1998 · Hans R. Waterham, Frits A. Wijburg, et al. · The American Journal of Human Genetics · 294
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Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency
2011 · Nils Krone, Nicole Reisch, et al. · The Journal of Clinical Endocrinology & Metabolism · 165
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Beneficial Effects of Growth Hormone Treatment on Cognition in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study
2012 · Elbrich P. C. Siemensma, Roderick F. A. Tummers-de Lind van Wijngaarden, et al. · The Journal of Clinical Endocrinology & Metabolism · 144
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Eight Years of Growth Hormone Treatment in Children With Prader-Willi Syndrome: Maintaining the Positive Effects
2013 · N. E. Bakker, R. J. Kuppens, et al. · The Journal of Clinical Endocrinology & Metabolism · 142
Efficacy and Safety of Long-Term Continuous Growth Hormone Treatment in Children with Prader-Willi Syndrome
2009 · Roderick F. A. de Lind van Wijngaarden, Elbrich P. C. Siemensma, et al. · The Journal of Clinical Endocrinology & Metabolism · 115
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Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome
2000 · Petr E. Jira, Ron A. Wevers, et al. · Journal of Lipid Research · 112
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Smith‐Lemli‐Opitz Syndrome and the DHCR7 Gene
2003 · P. E. Jira, H. R. Waterham, et al. · Annals of Human Genetics · 93
Biochemical diagnosis of Antley–Bixler syndrome by steroid analysis
2004 · Cedric Shackleton, Josep Marcos, et al. · American Journal of Medical Genetics Part A · 86
The phenotype of recurrent 10q22q23 deletions and duplications
2011 · Bregje W M van Bon, Jorune Balciuniene, et al. · European Journal of Human Genetics · 64
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Bone Mineral Density in Children and Adolescents With Prader-Willi Syndrome: A Longitudinal Study During Puberty and 9 Years of Growth Hormone Treatment
2015 · N. E. Bakker, R. J. Kuppens, et al. · The Journal of Clinical Endocrinology & Metabolism · 51
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Uncovering risk factors for kidney injury in children with a solitary functioning kidney
2022 · Sander Groen in ‘t Woud, Nel Roeleveld, et al. · Kidney International · 34
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Novel mutations in the 7‐dehydrocholesterol reductase gene of 13 patients with Smith–Lemli–Opitz syndrome
2001 · P. E. JIRA, R. J. A. WANDERS, et al. · Annals of Human Genetics · 31
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Pitfalls in measuring plasma cholesterol in the Smith–Lemli–Opitz syndrome
1997 · Petr E Jira, Jan G N de Jong, et al. · Clinical Chemistry · 30
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Primrose syndrome: Characterization of the phenotype in 42 patients
2020 · Daniela Melis, Daniel Carvalho, et al. · Clinical Genetics · 29
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Cholesterol metabolism deficiency
2013 · Petr Jira · Handbook of clinical neurology · 28
The growing skull fracture, a rare complication of paediatric head injury
2003 · Bas Zegers, Petr Jira, et al. · European Journal of Pediatrics · 27
SENS-U: continuous home monitoring of natural nocturnal bladder filling in children with nocturnal enuresis – a feasibility study
2020 · W.M.J. Kwinten, P.G. van Leuteren, et al. · Journal of Pediatric Urology · 23
Prevalence of growth hormone (GH) deficiency in previously GH‐treated young adults with Prader‐Willi syndrome
2019 · Stephany H. Donze, Layla Damen, et al. · Clinical Endocrinology · 23
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New treatment strategy for Smith-Lemli-Opitz syndrome
1997 · Petr Jira, Ron Wevers, et al. · The Lancet · 22
Decreased bone density and treatment in patients with autosomal recessive cutis laxa
2008 · C Noordam, S Funke, et al. · Acta Paediatrica · 19
[Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease].
1998 · M A Willemsen, P E Jira, et al. · PubMed · 13
FatalClostridium perfringens meningitis associated with insertion of a ventriculo-peritoneal shunt
1993 · S. B. Debast, E. Rijswijk, et al. · European Journal of Clinical Microbiology & Infectious Diseases · 11
Environmental and parental risk factors for congenital solitary functioning kidney — a case–control study
2023 · Sander Groen in ‘t Woud, Nel Roeleveld, et al. · Pediatric Nephrology · 9
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The use of typing methods and infection prevention measures to control a bullous impetigo outbreak on a neonatal ward
2012 · Maike Koningstein, Leon Groen, et al. · Antimicrobial Resistance and Infection Control · 7
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Carboxyhemoglobin in umbilical cord blood and maternal smoking
2019 · Kevin Hengstler, Peter van ’t Sant, et al. · Journal of Perinatal Medicine · 6
Works count: 45
Citation count: 1,597
H-index: 19
I10-index: 22
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