Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
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Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approachMitochondrial genomic variation associated with higher mitochondrial copy number: the Cache County Study on Memory Health and AgingNF1 is a critical regulator of muscle development and metabolismClinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.Peripheral muscle weakness in RASopathies.Endocrine manifestations related to inherited metabolic diseases in adults.Oxidative Stress in Cancer-Prone Genetic Diseases in Pediatric Age: The Role of Mitochondrial DysfunctionMetabolic cutis laxa syndromes.Mitochondrial dysfunction: a neglected component of skin diseases.Diagnostically relevant facial gestalt information from ordinary photos.Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis.Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders.Cognitive functioning of adults with Noonan syndrome: a case-control study.Mice with an Oncogenic HRAS Mutation are Resistant to High-Fat Diet-Induced Obesity and Exhibit Impaired Hepatic Energy Homeostasis.Co‐occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death.
P2860
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P2860
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
description
2010 nî lūn-bûn
@nan
2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mitochondrial dysfunction and ...... tions in the Ras-MAPK pathway.
@ast
Mitochondrial dysfunction and ...... tions in the Ras-MAPK pathway.
@en
Mitochondrial dysfunction and ...... tions in the Ras-MAPK pathway.
@nl
type
label
Mitochondrial dysfunction and ...... tions in the Ras-MAPK pathway.
@ast
Mitochondrial dysfunction and ...... tions in the Ras-MAPK pathway.
@en
Mitochondrial dysfunction and ...... tions in the Ras-MAPK pathway.
@nl
prefLabel
Mitochondrial dysfunction and ...... tions in the Ras-MAPK pathway.
@ast
Mitochondrial dysfunction and ...... tions in the Ras-MAPK pathway.
@en
Mitochondrial dysfunction and ...... tions in the Ras-MAPK pathway.
@nl
P2093
P2860
P50
P356
P1476
Mitochondrial dysfunction and ...... ations in the Ras-MAPK pathway
@en
P2093
Ernie M H F Bongers
Eva Morava
Gabrielle Gillessen-Kaesbach
Ineke van der Burgt
Jan A M Smeitink
Katalin Hollody
Kinga Hadzsiev
Saskia B Wortmann
Tjitske Kleefstra
Willy M Nillesen
P2860
P2888
P304
P356
10.1038/EJHG.2010.171
P577
2010-11-10T00:00:00Z