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NARA Subscribed3
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Springer Nature3
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Journal of Genetics2
NeuroMolecular Medicine1
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20191
20151
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Maria Kinali results 3 · Newest (Page 1/1, per page 25)
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SCN2A mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disordersNARA Subscribed
Journal of Genetics · 2019 · Vol. 98 · Issue 2 · Springer
Victoria Vlachou; Line Larsen; Efterpi Pavlidou; Naila Ismayilova; N. D. Mazarakis; Mantha Pantazi; Kshitij Mankad; Maria Kinali
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Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without ‘hairy elbows’: expanding the phenotype of Wiedemann–Steiner syndromeNARA Subscribed
Journal of Genetics · 2015 · Vol. 94 · Issue 4 · Springer
DORA STEEL; VINCENZO SALPIETRO; RAHUL PHADKE; MATTHEW PITT; GIULIA GENTILE; AHMED MASSOUD; LEIGH BATTEN; ANU BASHAMBOO; KEN MCELREAVEY; ANAND SAGGAR; MARIA KINALI
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Novel Mutations Mapping to the Fourth Sodium Channel Domain of Nav1.7 Result in Variable Clinical Manifestations of Primary ErythromelalgiaNARA Subscribed
NeuroMolecular Medicine · 2013 · Vol. 15 · Issue 2 · Springer
Roman Cregg; Bisola Laguda; Robert Werdehausen; James J. Cox; John E. Linley; Juan D. Ramirez; Istvan Bodi; Michael Markiewicz; Kevin J. Howell; Ya-Chun Chen; Karen Agnew; Henry Houlden; Michael P. Lunn; David L. H. Bennett; John N. Wood; Maria Kinali
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