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Journal of Pediatric Endocrinology & Metabolism : JPEM
|
May 14, 2015
Migratory polyarthritis as an adverse effect of thiamazole use in a 13-year-old girl with Graves' disease
Jo-Anne Janson, Paul de Laat, Jos M T Draaisma
Molecular Genetics & Genomic Medicine
|
December 6, 2018
Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation
Paul de Laat, Richard J Rodenburg, Jan A M Smeitink, et al.
Orphanet Journal of Rare Diseases
|
May 17, 2017
Quantification of gait in mitochondrial m.3243A > G patients: a validation study
Rob Ramakers, Saskia Koene, Jan T Groothuis, et al.
Journal of Medical Genetics
|
May 23, 2020
Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant
Paul de Laat, Richard R Rodenburg, Nel Roeleveld, et al.
Clinical Kidney Journal
|
December 7, 2019
Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature
Paul de Laat, Nienke van Engelen, Jack F Wetzels, et al.
Orphanet Journal of Rare Diseases
|
November 15, 2018
Fear of disease progression in carriers of the m.3243A > G mutation
José A E Custers, Paul de Laat, Saskia Koene, et al.
Mitochondrion
|
October 13, 2015
Obstetric complications in carriers of the m.3243A>G mutation, a retrospective cohort study on maternal and fetal outcome
Paul de Laat, Leanne H J Fleuren, Mireille N Bekker, et al.
Clinical Endocrinology
|
March 26, 2026
Transient Hyperparathyroidism and Severe Intrauterine Osteopenia Linked to Novel Homozygous TRPV6 Deletion
Teodora Grigore, Quinty Leusink, Femke Latta, et al.
Ophthalmology
|
June 29, 2013
Mitochondrial retinal dystrophy associated with the m.3243A>G mutation
Paul de Laat, Jan A M Smeitink, Mirian C H Janssen, et al.
Orphanet Journal of Rare Diseases
|
March 19, 2016
Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation
Christianne Verhaak, Paul de Laat, Saskia Koene, et al.
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of 2
Search research articles
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Showing results (1-10 of 18) with videos related to
Sort By:
Page
of 2
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
May 14, 2015
Migratory polyarthritis as an adverse effect of thiamazole use in a 13-year-old girl with Graves' disease
Jo-Anne Janson, Paul de Laat, Jos M T Draaisma
Molecular Genetics & Genomic Medicine
|
December 6, 2018
Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation
Paul de Laat, Richard J Rodenburg, Jan A M Smeitink, et al.
Orphanet Journal of Rare Diseases
|
May 17, 2017
Quantification of gait in mitochondrial m.3243A > G patients: a validation study
Rob Ramakers, Saskia Koene, Jan T Groothuis, et al.
Journal of Medical Genetics
|
May 23, 2020
Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant
Paul de Laat, Richard R Rodenburg, Nel Roeleveld, et al.
Clinical Kidney Journal
|
December 7, 2019
Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature
Paul de Laat, Nienke van Engelen, Jack F Wetzels, et al.
Orphanet Journal of Rare Diseases
|
November 15, 2018
Fear of disease progression in carriers of the m.3243A > G mutation
José A E Custers, Paul de Laat, Saskia Koene, et al.
Mitochondrion
|
October 13, 2015
Obstetric complications in carriers of the m.3243A>G mutation, a retrospective cohort study on maternal and fetal outcome
Paul de Laat, Leanne H J Fleuren, Mireille N Bekker, et al.
Clinical Endocrinology
|
March 26, 2026
Transient Hyperparathyroidism and Severe Intrauterine Osteopenia Linked to Novel Homozygous TRPV6 Deletion
Teodora Grigore, Quinty Leusink, Femke Latta, et al.
Ophthalmology
|
June 29, 2013
Mitochondrial retinal dystrophy associated with the m.3243A>G mutation
Paul de Laat, Jan A M Smeitink, Mirian C H Janssen, et al.
Orphanet Journal of Rare Diseases
|
March 19, 2016
Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation
Christianne Verhaak, Paul de Laat, Saskia Koene, et al.
Page
of 2