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#mutations identified in a Chinese patient with leukodystrophy

Posted 5 years ago (23 August 2019)

Homozygous SLC26A7#mutation in two siblings with Congenital goitrous #hypothyroidism identi…

Posted 5 years ago (12 August 2019)

Novel #mutation associated with #Hemorrhagic #stroke and renovascular #hypertension…

Posted 5 years ago (09 July 2019)

Genotype-phenotype correlations of known and novel #mutations in patients with Wolfra…

Posted 5 years ago (09 July 2019)

Germline #mutations characterize subcutaneous panniculitis-like T cell #lymphomas wi…

Posted 5 years ago (08 May 2019)

Novel #mutation in female #patient with spastic #paraplegia

Posted 5 years ago (22 April 2019)

Deep-intronic variants associate with #Stargardt disease #ophthalmology #eyehealth…

Posted 5 years ago (21 January 2019)

biallelic variants in #patients with developmental delay, #cataract, and craniofacial…

Posted 5 years ago (16 January 2019)

variant associated with tacrolimus concentrations in kidney transplant patients…

Posted 5 years ago (03 January 2019)

Novel variants in and PDE4D, associated with acrodysostosis and acroscyphodysplasia…

Posted 6 years ago (25 July 2018)

Novel missense #mutation associated with a dominant form of late onset #hearingloss

Posted 6 years ago (20 June 2018)

De Novo and Inherited Loss-of-Function variants associated with Distinct…

Posted 6 years ago (12 June 2018)

Rare #mutation detected in patient with non-syndromic human #brain #arteriovenous mal…

Posted 6 years ago (04 June 2018)

Novel autosomal biallelic #mutations associated with #microcephaly, #short #stature,…

Posted 6 years ago (21 May 2018)

New X-linked #mutation detected in a boy with severe #autistic behaviour…

Posted 6 years ago (08 May 2018)

#GWAS variants asscociated with #cholesterol efflux capacity #HDL levels

Posted 6 years ago (03 May 2018)

variant associated with #insulin Resistance and #FattyLiver in Caucasian Obese Youth…

Posted 6 years ago (12 March 2018)

Novel homozygous variant in patients with #Joubert #syndrome impairs its guanine nuc…

Posted 6 years ago (02 January 2018)