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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 14, 2012
SRD5A3-CDG: a patient with a novel mutationC S Kasapkara, L Tümer, F S Ezgü, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 26, 1996
Molecular characterization of the human peroxisomal branched-chain acyl-CoA oxidase: cDNA cloning, chromosomal assignment, tissue distribution, and evidence for the absence of the protein in Zellweger syndromeE Baumgart, J C Vanhooren, M Fransen, et al.
Blood|November 5, 1997
Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemiaP Peeters, S D Raynaud, J Cools, et al.
Leukemia|August 22, 2003
Translocations t(11;18)(q21;q21) and t(14;18)(q32;q21) are the main chromosomal abnormalities involving MLT/MALT1 in MALT lymphomasE M Murga Penas, K Hinz, K Röser, et al.
Archives of Neurology|January 1, 1996
Familial juvenile focal amyotrophy of the upper extremity (Hirayama disease). Superoxide dismutase 1 genotype and activityW Robberecht, T Aguirre, L Van den Bosch, et al.
JIMD Reports|February 23, 2013
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165R Zeevaert, F de Zegher, L Sturiale, et al.
Genetic Counseling (Geneva, Switzerland)|February 19, 2010
Werdnig-Hoffmann disease: report of the first case clinically identified and genetically confirmed in central Africa (Kinshasa-Congo)A Lumaka, D Bone, R Lukoo, et al.
Journal of Endovascular Therapy : an Official Journal of the International Society of Endovascular Specialists|June 8, 2023
Relining of a Bridging Covered Stent to Treat a Rare Cause of Type IIIc Endoleak Following Fenestrated Endovascular Aneurysm RepairEmiel W M Huistra, Ignace F J Tielliu, G Matthijs Kater, et al.
Journal of Medical Genetics|January 15, 2003
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patientsI Longo, S G M Frints, J-P Fryns, et al.
Blood|May 26, 1999
The apoptosis inhibitor gene API2 and a novel 18q gene, MLT, are recurrently rearranged in the t(11;18)(q21;q21) associated with mucosa-associated lymphoid tissue lymphomasJ Dierlamm, M Baens, I Wlodarska, et al.
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