Víctor L. Ruiz‐Pérez

Mice deficient for the OI-gene Kdelr2 display skeletal defects and ER stress attenuable by ascorbic acid

Juan A. Jiménez‐Estrada, Carmen‐Lisset Flores, Almudena Fernández, Asier Iturrate et autres

es, de (code pays fourni par la source)

Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G

Mónica Mora‐Gómez, Marta Feito Rodríguez, Natalia Gallego, Rocío Maseda-Pedrero et autres

es, nl (code pays fourni par la source)

Expanding the phenotype associated with biallelic SCNM1 variants

Asier Iturrate, Frédéric Tran-Mau Them, Alain Verloès, Antoine Pouzet et autres

es, fr, lk, us, Égypte (code pays fourni par la source)

Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes

Ghada M. Elhady, Asmaa K. Amin, Asier Iturrate, Sara H. El‐Dessouky et autres

Égypte, es, ch (code pays fourni par la source)

N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder

Asier Iturrate, Nurit Assia Batzir, Ranit Jaron, David Garcia-Valentin et autres

es, il, us (code pays fourni par la source)

Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome

Alejandro Parra, Juan A. Jimenez‐Estrada, Valeria Vásquez‐Amell, Mario Cazalla et autres

es (code pays fourni par la source)

Investigation of Multilocus Imprinting Disturbance (MLID) in 101 Beckwith-Wiedemann Spectrum patients

Alejandro Parra, Mario Cazalla, Carlos Rodríguez‐Antolín, Cristina Silván et autres

es, ru, dk, gb (code pays fourni par la source)

Author response for "Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome"

Alejandro Parra, Juan A. Jimenez‐Estrada, Valeria Vásquez‐Amell, Mario Cazalla et autres

Non‐immune hydrops fetalis is associated with bi‐allelic pathogenic variants in the MYB Binding Protein 1a ( MYBBP1A ) gene

Jair Tenorio, Elena Mansilla Aparicio, Fe Amalia García Santiago, Cherise M. Klotz et autres

es, nl, us (code pays fourni par la source)

Author response for "Non‐immune hydrops fetalis is associated with bi‐allelic pathogenic variants in the MYB Binding Protein 1a ( MYBBP1A ) gene"

Jair Tenorio, Elena Mansilla Aparicio, Fe Amalia García Santiago, Cherise M. Klotz et autres

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis

Umut Altunoğlu, Adrián Palencia‐Campos, Nilay Güneş, Gözde Tutku Turgut et autres

tr, es, Égypte, mx, dk, lt, Tunisie (code pays fourni par la source)

EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO

Pablo Barbeito, Raquel Martin-Morales, Adrián Palencia‐Campos, Juan J. Cerrolaza et autres

es (code pays fourni par la source)