Tania Attié-bitach
0000-0002-1155-3626
7 papers found
Refreshing results…
Clinical heterogeneity of NADSYN1‐associated VCRL syndrome
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome
EFTUD2 missense variants disrupt protein function and splicing in Mandibulofacial Dysostosis Guion‐Almeida type
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses
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