Хайлтын үр дүнгүүд - Morgane Straub
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Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature -н Salima El Chehadeh, Wilhelmina S. Kerstjens‐Frederikse, Julien Thévenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean‐Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P. Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot‐Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, R. Frank Kooy, Miroslava Hančárová, Markéta Havlovicová, Darina Prchalová, Zdeněk Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S. Klein Wassink‐Ruiter, Laurence Faivre
Хэвлэсэн 2016Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
Internal medicine
Medicine
Biology
Cancer
Candidate gene
Ciliopathy
Coloboma
Exome sequencing
Fluorescein angiography
Frameshift mutation
Gene
Genetics
Hypoplasia
Immunotherapy
Macular edema
Microcephaly
Microphthalmia
Missense mutation
Nivolumab
Ophthalmology
Optic nerve hypoplasia
Papilledema
Pathology
Phenotype
Serous fluid
Short stature
Surgery
Uveitis
Visual acuity