Found: 36
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The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency.
- Published in:
- JNCI Cancer Spectrum, 2024, v. 8, n. 4, p. 1, doi. 10.1093/jncics/pkae044
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- Publication type:
- Article
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 1, p. 345, doi. 10.1007/s00431-023-05279-4
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- Publication type:
- Article
Fear of disease progression in carriers of the m.3243A > G mutation.
- Published in:
- 2018
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- Publication type:
- journal article
Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study.
- Published in:
- 2017
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- Publication type:
- journal article
KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers.
- Published in:
- 2017
- By:
- Publication type:
- journal article
The Perspectives and Values of Children with a Mitochondrial Disorder with Regard to Everyday Activities.
- Published in:
- Journal of Developmental & Physical Disabilities, 2020, v. 32, n. 3, p. 509, doi. 10.1007/s10882-019-09699-9
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- Publication type:
- Article
Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 13664, doi. 10.3390/ijms232213664
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- Publication type:
- Article
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 4, p. 270, doi. 10.1159/000530256
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- Publication type:
- Article
Mitochondrial disorders in children: toward development of small-molecule treatment strategies.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 4, p. 311, doi. 10.15252/emmm.201506131
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- Publication type:
- Article
Using PRPP‐Assessment for measuring change in everyday activities by home‐based videos: An exploratory case series study in children with multiple disabilities.
- Published in:
- Australian Occupational Therapy Journal, 2023, v. 70, n. 6, p. 644, doi. 10.1111/1440-1630.12893
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- Publication type:
- Article
Tailored interviewing to uncover the perspectives of children with multiple disabilities on daily activities: A qualitative analyses of interview methods and interviewer skills.
- Published in:
- Australian Occupational Therapy Journal, 2023, v. 70, n. 2, p. 175, doi. 10.1111/1440-1630.12842
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- Publication type:
- Article
Quantification of gait in mitochondrial m.3243A > G patients: a validation study.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi‐based international workshop.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1267, doi. 10.1007/s10545-018-0229-5
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- Publication type:
- Article
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1267, doi. 10.1007/s10545-018-0229-5
- By:
- Publication type:
- Article
Quantification of gait in children with mitochondrial disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 731, doi. 10.1007/s10545-018-0148-5
- By:
- Publication type:
- Article
Erratum to: International Paediatric Mitochondrial Disease Scale.
- Published in:
- 2017
- By:
- Publication type:
- Erratum
International Paediatric Mitochondrial Disease Scale.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 705, doi. 10.1007/s10545-016-9948-7
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- Publication type:
- Article
Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1059, doi. 10.1007/s10545-012-9465-2
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- Publication type:
- Article
Erratum to: Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation.
- Published in:
- 2012
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- Publication type:
- Correction notice
Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 293, doi. 10.1007/s10545-009-9005-x
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- Publication type:
- Article
Metabolic manipulators: a well founded strategy to combat mitochondrial dysfunction.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 315, doi. 10.1007/s10545-010-9162-y
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- Publication type:
- Article
Mitochondrial medicine.
- Published in:
- 2011
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- Publication type:
- Editorial
Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patients.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 46, n. 1, p. 52, doi. 10.1002/jmd2.12017
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- Publication type:
- Article
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 4, p. 1, doi. 10.1210/jendso/bvac019
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- Publication type:
- Article
Towards the harmonization of outcome measures in children with mitochondrial disorders.
- Published in:
- Developmental Medicine & Child Neurology, 2013, v. 55, n. 8, p. 698, doi. 10.1111/dmcn.12119
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- Publication type:
- Article
The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders.
- Published in:
- Clinical Pharmacology & Therapeutics, 2019, v. 105, n. 1, p. 101, doi. 10.1002/cpt.1197
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- Publication type:
- Article
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.
- Published in:
- 2021
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- Publication type:
- journal article
High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes.
- Published in:
- Epilepsia Open, 2021, v. 6, n. 4, p. 685, doi. 10.1002/epi4.12534
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- Publication type:
- Article
Everyday Activities for Children with Mitochondrial Disorder: A Retrospective Chart Review.
- Published in:
- Occupational Therapy International, 2018, p. 1, doi. 10.1155/2018/5716947
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- Publication type:
- Article
Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation family.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3510, doi. 10.1002/ajmg.a.62929
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- Publication type:
- Article
Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1578, doi. 10.1002/ajmg.a.62669
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- Publication type:
- Article
Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1366, doi. 10.1002/ajmg.a.62102
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- Publication type:
- Article
Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 571, doi. 10.1002/ajmg.a.61988
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- Publication type:
- Article
Psychological functioning in children suspected for mitochondrial disease: the need for care.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Assisted 6-minute cycling test: An exploratory study in children.
- Published in:
- 2016
- By:
- Publication type:
- journal article