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Author/Creator Pavaine, Julija

1. Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy. Issue 1 (22nd October 2022)

Authors:
Sitaram, Spatikha; Banka, Hetalika C.; Vassallo, Grace; Pavaine, Julija; Fairclough, Adele; Wright, Ronnie; Fairbanks, Lynette; Bierau, Jörgen; Bowden, Lydia; Schwahn, Bernd; Horman, Alistair; Banka, Siddharth
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 1(2023)
Page Start:
234
Record Type:
Journal Article
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2. Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study. (May 2021)

Authors:
Raviglione, Federico; Douzgou, Sofia; Scala, Marcello; Mingarelli, Alessia; D'Arrigo, Stefano; Freri, Elena; Darra, Francesca; Giglio, Sabrina; Bonaglia, Maria C; Pantaleoni, Chiara; Mastrangelo, Massimo; Epifanio, Roberta; Elia, Maurizio; Saletti, Veronica; Morlino, Silvia; Vari, Maria Stella; D...
Journal:
Seizure
Issue:
Volume 88(2021)
Page Start:
60
Record Type:
Journal Article
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3. Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. Issue 6 (20th March 2019)

Authors:
Banka, Siddharth; Sayer, Rebecca; Breen, Catherine; Barton, Stephanie; Pavaine, Julija; Sheppard, Sarah E.; Bedoukian, Emma; Skraban, Cara; Cuddapah, Vishnu A; Clayton‐Smith, Jill
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 6(2019)
Page Start:
1058
Record Type:
Journal Article
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4. Neuroimaging manifestations in children with SARS-CoV-2 infection: a multinational, multicentre collaborative study. (March 2021)

Authors:
Lindan, Camilla E; Mankad, Kshitij; Ram, Dipak; Kociolek, Larry K; Silvera, V Michelle; Boddaert, Nathalie; Stivaros, Stavros Michael; Palasis, Susan; Akhtar, Sameen; Alden, Douglas; Amonkar, Suraj; Aouad, Pascale; Aubart, Mélodie; Bacalla, Jose Alejandro; Barbosa, Alcino A; Basmaci, Romain; Bert...
Journal:
Lancet
Issue:
Volume 5:Number 3(2021)
Page Start:
167
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗