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1.
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
J Inherit Metab Dis
; 45(4): 769-781, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35279850
2.
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Hum Mol Genet
; 27(17): 3029-3045, 2018 09 01.
Article
in English
| MEDLINE | ID: mdl-29878199
3.
Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.
Mol Genet Metab
; 126(1): 43-52, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30470562
4.
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
Hum Mol Genet
; 23(23): 6356-65, 2014 Dec 01.
Article
in English
| MEDLINE | ID: mdl-25008109
5.
Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory.
Am J Hematol
; 91(12): E482-E490, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27643674
6.
Inactivating PAPSS2 mutations in a patient with premature pubarche.
N Engl J Med
; 360(22): 2310-8, 2009 May 28.
Article
in English
| MEDLINE | ID: mdl-19474428
7.
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.
Hum Mol Genet
; 18(18): 3365-74, 2009 Sep 15.
Article
in English
| MEDLINE | ID: mdl-19525295
8.
Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma.
Hum Mol Genet
; 17(7): 986-95, 2008 Apr 01.
Article
in English
| MEDLINE | ID: mdl-18156159
9.
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.
Eur J Hum Genet
; 23(2): 202-9, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-24781757
10.
A novel mutation in COQ2 leading to fatal infantile multisystem disease.
J Neurol Sci
; 326(1-2): 24-8, 2013 Mar 15.
Article
in English
| MEDLINE | ID: mdl-23343605
11.
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
Ann Neurol
; 61(1): 73-83, 2007 Jan.
Article
in English
| MEDLINE | ID: mdl-17262856
12.
Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.
Mol Genet Metab
; 90(1): 10-4, 2007 Jan.
Article
in English
| MEDLINE | ID: mdl-16996290
13.
CIA30 complex I assembly factor: a candidate for human complex I deficiency?
Hum Genet
; 110(3): 264-70, 2002 Mar.
Article
in English
| MEDLINE | ID: mdl-11935339
14.
A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency.
J Hum Genet
; 48(1): 8-13, 2003.
Article
in English
| MEDLINE | ID: mdl-12560872
15.
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.
Eur J Pediatr
; 162(10): 714-8, 2003 Oct.
Article
in English
| MEDLINE | ID: mdl-12925875
16.
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
Ann Neurol
; 54(5): 665-9, 2003 Nov.
Article
in English
| MEDLINE | ID: mdl-14595656
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