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Author/Creator Repetto, Gabriela M

1. Analysis of REM sleep without atonia in 22q11.2 deletion syndrome determined by domiciliary polysomnography: a cross sectional study. Issue 2 (28th December 2021)

Authors:
Mauro, Jorge; Diaz, Mario; Córdova, Teresa; Villanueva, Katiuska; Cáceres, Tania; Bassi, Alejandro; Fritsch, Rosemarie; Repetto, Gabriela M; Ocampo-Garcés, Adrián
Journal:
Sleep
Issue:
Volume 45:Issue 2(2022)
Page Start:
Record Type:
Journal Article
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2. Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study. Issue 11 (6th November 2014)

Authors:
Repetto, Gabriela M; Guzmán, M Luisa; Delgado, Iris; Loyola, Hugo; Palomares, Mirta; Lay-Son, Guillermo; Vial, Cecilia; Benavides, Felipe; Espinoza, Karena; Alvarez, Patricia
Journal:
BMJ open
Issue:
Volume 4:Issue 11(2014)
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Record Type:
Journal Article
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3. Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2. (18th January 2018)

Authors:
Guo, Tingwei; Diacou, Alexander; Nomaru, Hiroko; McDonald-McGinn, Donna M; Hestand, Matthew; Demaerel, Wolfram; Zhang, Liangtian; Zhao, Yingjie; Ujueta, Francisco; Shan, Jidong; Montagna, Cristina; Zheng, Deyou; Crowley, Terrence B; Kushan-Wells, Leila; Bearden, Carrie E; Kates, Wendy R; Gothelf,...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 7(2018:Apr. 01)
Page Start:
1150
Record Type:
Journal Article
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4. Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. Issue 4 (12th April 2012)

Authors:
Shamseldin, Hanan E; Alshammari, Muneera; Al-Sheddi, Tarfa; Salih, Mustafa A; Alkhalidi, Hisham; Kentab, Amal; Repetto, Gabriela M; Hashem, Mais; Alkuraya, Fowzan S
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 4(2012)
Page Start:
234
Record Type:
Journal Article
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