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- 2024
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Mark
Physician's conceptions of the decision-making process when managing febrile infants ≤ 60 days old : a phenomenographic qualitative study
(
- Contribution to journal › Article
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Mark
Clinical Characteristics Suggestive of a Genetic Cause in Cerebral Palsy : A Systematic Review
(
- Contribution to journal › Scientific review
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Mark
Correlation of mitochondrial respiration in platelets, peripheral blood mononuclear cells and muscle fibers
(
- Contribution to journal › Article
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Mark
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
(
- Contribution to journal › Article
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Mark
Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
2024) In European Journal of Neurology(
- Contribution to journal › Article
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Mark
Clinical characteristics of children with Borrelia-related peripheral facial palsy and utility of cerebrospinal fluid testing
2024) In Acta Paediatrica, International Journal of Paediatrics(
- Contribution to journal › Article
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Mark
Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management
(
- Contribution to journal › Article
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Mark
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG) : Updated clinical and molecular review and clinical management guidelines
(
- Contribution to journal › Scientific review
- 2023
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Mark
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
(
- Contribution to journal › Article
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Mark
Childhood tuberous sclerosis complex in southern Sweden: A paradigm shift in diagnosis and treatment.
(
- Contribution to journal › Article