Elsayed LEO, Mohammed IN, Hamed AAA, Elseed MA, Salih MAM, Yahia A, Abubaker R, Koko M, Abd Allah ASI, Elbashir MI, Ibrahim ME, Brice A, Ahmed AE and Stevanin G (2020) Novel

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroax- onal dystrophy in a Sudanese family... Ahmed 1* and Giovanni

In the present study, we identified a novel, homozygous missense mutation in the cardiac SCN5A gene leading to a severe clinical phenotype in four children, including SND,

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Phenotypic characterization of a patient with Glanzmann Thrombasthenia caused by a novel homozygous mutation in the ITGA2B gene..

Here we present an extended Palestinian family with 10 a ff ected individuals harboring a novel homozygous splice site mutation, c.391+4A > T in intron 2 of the FKBP10 gene, in

A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family.. Pelizaeus-Merzbacher disease : a frameshift

Table 2 Clinical features of homozygous and compound heterozygous gene encoding fibrillin-1 (FBN1) mutation carriers and their family members in the report and in the

Six families (Families A-F) were digenic mutation carriers, one family compound heterozygous for two plakoglobin mutations (Family G), one family had a homozygous desmoplakin

A novel mutation in exon 8 of C1 inhibitor (C1INH) gene leads to abolish its physiological stop codon in a large Chinese family with hereditary angioedema type I..

Novel mutations in the bone morphogenetic protein 6 gene in patients with iron overload and non-homozygous genotype for the HFE p.Cys282Tyr mutation.. Blood Cells, Molecules

Les ménages dirigés par une femme ont tendance à être plus en insécurité alimentaire que ceux ayant un homme à leur tête dans les régions de l'Adamaoua, du Nord,

G ACIDE FOLIQUE TORRENT 5 mg, comprimé, (L'AMM de cette spécialité est abrogée), OPENING PHARMA France,.. Non

Four disulfide-bridged scorpion beta neurotoxin CssII: heterologous expression and proper folding in vitro.. Georgina Estrada, Blanca Garcia, Emanuele Schiavon, Ernesto Ortiz,

Furthermore, we combined fluorescence microscopy and flow cytometry to demonstrate that treatment of U-2 OS osteosarcoma human cells with neurymenolide A could block cell division

Please cite this article in press as: Makrygiannis, G., et al., Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of

Enoncez la règle permettant de savoir quelle diode conduit si plusieurs ont leur cathode commune.. Enoncez la règle permettant de savoir quelle diode conduit si plusieurs ont

G LEVOFLOXACINE MYLAN 5 mg/ml, solution pour perfusion, (L'AMM de cette spécialité est abrogée),.