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1.
Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers.
Mol Genet Metab
; 140(1-2): 107710, 2023.
Article
in English
| MEDLINE | ID: mdl-37903659
2.
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.
Blood
; 137(18): 2450-2462, 2021 05 06.
Article
in English
| MEDLINE | ID: mdl-33512449
3.
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Hum Mol Genet
; 28(4): 525-538, 2019 02 15.
Article
in English
| MEDLINE | ID: mdl-30304524
4.
Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder.
Clin Chem
; 69(6): 661-664, 2023 06 01.
Article
in English
| MEDLINE | ID: mdl-37258485
6.
Clinical, biochemical and molecular characterization of a new case with FDX2-related mitochondrial disorder: Potential biomarkers and treatment options.
JIMD Rep
; 65(2): 102-109, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38444577
7.
Flexion-extension cervical spine MRI in children with skeletal dysplasia: is it safe and effective?
J Pediatr Orthop
; 33(1): 91-8, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-23232386
8.
Craniosynostosis in a patient with Fanconi-Bickel syndrome: a case report.
J Pediatr Endocrinol Metab
; 35(9): 1201-1205, 2022 Sep 27.
Article
in English
| MEDLINE | ID: mdl-35796289
9.
Newborn Pulse Oximetry for Infants Born Out-of-Hospital.
Pediatrics
; 148(4)2021 10.
Article
in English
| MEDLINE | ID: mdl-34531289
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