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Characteristics of AS-like patients at clinical re-evaluati..:
Cinthia Aguilera (10875480)
;
Elisabeth Gabau (3185658)
;
Ariadna Ramirez-Mallafré (11570726)
...
https://figshare.com/articles/dataset/Characteristics_of_AS-like_patients_at_clinical_re-evaluation_/16820399. , 2021
Link:
https://doi.org/10.1371/journal.pone.0258766.t002
RT Journal T1
Characteristics of AS-like patients at clinical re-evaluation
UL https://suche.suub.uni-bremen.de/peid=base-ftsmithonian:oai:figshare.com:article_16820399&Exemplar=1&LAN=DE A1 Cinthia Aguilera (10875480) A1 Elisabeth Gabau (3185658) A1 Ariadna Ramirez-Mallafré (11570726) A1 Carme Brun-Gasca (11570729) A1 Jana Dominguez-Carral (11570732) A1 Veronica Delgadillo (11570735) A1 Steve Laurie (11570738) A1 Sophia Derdak (642670) A1 Natàlia Padilla (4351891) A1 Xavier de la Cruz (10294) A1 Núria Capdevila (11570741) A1 Nino Spataro (6868745) A1 Neus Baena (3185673) A1 Miriam Guitart (3508598) A1 Anna Ruiz (10875483) YR 2021 K1 Medicine K1 Genetics K1 Neuroscience K1 Infectious Diseases K1 Virology K1 Biological Sciences not elsewhere classified K1 wide genetic heterogeneity K1 specific eeg abnormalities K1 severe developmental delay K1 new genes involved K1 neurogenetic disorder characterized K1 candidate gene (< K1 likely pathogenic variants K1 10 – 15 K1 de novo </ K1 div >< p K1 linked pathogenic K1 identified 10 K1 vamp2 </ K1 tbl1xr1 </ K1 syngap1 </ K1 sptan1 </ K1 smarce1 </ K1 slc6a1 </ K1 satb2 </ K1 las1l </ K1 kcnq3 </ K1 hsf2 </ K1 asxl3 </ K1 results highlight K1 one deleterious K1 molecular diagnosis K1 happy disposition K1 frequent laughter K1 exome sequencing K1 clinical features K1 1 x JF https://figshare.com/articles/dataset/Characteristics_of_AS-like_patients_at_clinical_re-evaluation_/16820399 LK http://dx.doi.org/https://doi.org/10.1371/journal.pone.0258766.t002 DO https://doi.org/10.1371/journal.pone.0258766.t002 SF ELIB - SuUB Bremen
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