Metka Ravnik‐Glavač

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Wouter van Rheenen, Aleksey Shatunov, Annelot M. Dekker et al. · Nature Genetics · 2016 · 628 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Genotyping microarray (gene chip) for the<i>ABCR</i>(<i>ABCA4</i>) gene

Kaie Jaakson, Jana Zernant, Maigi Külm et al. · Human Mutation · 2003 · 239 citations

Medicine, Genetics, Molecular Genetics +17

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

Thilo Dörk, Milan Maçek, Frauke Mekus et al. · Human Genetics · 2000 · 146 citations

Life Sciences, Genetics, Molecular Genetics +11

Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria

Maja Šlajpah, B. Gorinšek, Gašper Berginc et al. · Kidney International · 2007 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.

Mirna Štabuc-Šilih, Metka Ravnik‐Glavač, Damjan Glavač et al. · PubMed · 2009 · 80 citations

Life Sciences, Genetics, Molecular Genetics +16