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Asier Iturrate

Showing results (1-10 of 4) with videos related to

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Clinical Genetics|October 15, 2025
Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal PhenotypesGhada Elhady, Asmaa K Amin, Asier Iturrate, et al.
European Journal of Human Genetics : EJHG|September 30, 2025
N-terminal truncating variants in CACNB1 cause a new congenital muscular disorderAsier Iturrate, Nurit Assia Batzir, Ranit Jaron, et al.
American Journal of Human Genetics|September 9, 2022
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary ciliaAsier Iturrate, Ana Rivera-Barahona, Carmen-Lisset Flores, et al.
Journal of Medical Genetics|March 26, 2024
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosisUmut Altunoglu, Adrian Palencia-Campos, Nilay Güneş, et al.
Pageof 1

Showing results (1-10 of 4) with videos related to

Sort By:
Pageof 1
Clinical Genetics|October 15, 2025
Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal PhenotypesGhada Elhady, Asmaa K Amin, Asier Iturrate, et al.
European Journal of Human Genetics : EJHG|September 30, 2025
N-terminal truncating variants in CACNB1 cause a new congenital muscular disorderAsier Iturrate, Nurit Assia Batzir, Ranit Jaron, et al.
American Journal of Human Genetics|September 9, 2022
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary ciliaAsier Iturrate, Ana Rivera-Barahona, Carmen-Lisset Flores, et al.
Journal of Medical Genetics|March 26, 2024
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosisUmut Altunoglu, Adrian Palencia-Campos, Nilay Güneş, et al.
Pageof 1