Yalda Jamshidi

Expanding the clinical and genetic spectrum of biallelic MYO18B pathogenic variants in congenital myopathy

Irina Zaharieva, Sandra Donkervoort, Cheryl Longman, Reza Maroofian et autres

gb, us, Tunisie, Égypte (code pays fourni par la source)

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

Hye In Kim, Christopher DeBoever, Klaudia Walter, Georgios Kalantzis et autres

us, gb, de, es, fi, au, ca, br, jp (code pays fourni par la source)

Deciphering tissue-specific protein regulation for insights into cardiometabolic disease

April Hartley, Katyayani Sukhavasi, Sile Hu, Matthew Traylor et autres

fi, ee, dk, se (code pays fourni par la source)

UK Biobank: Transforming drug discovery and precision medicine

Jelena Bešević, Saredo Said, Réka Nagy, Yalda Jamshidi et autres

gb, fi, us (code pays fourni par la source)

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao et autres

gb, ca, au, it, fr, be, qa, tr, bg, bd, br, ae, de, pk, nl, es, pt, us, Égypte (code pays fourni par la source)

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism

Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian et autres

de, gb, us, ir, ca, Égypte, qa, in, lu, hu, tr, au, ee, il, fr, nl, Algérie, ae, se, sa, pl (code pays fourni par la source)

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Gregorio Nolasco, Mónica Roldán, Yalda Jamshidi, Ioannis Georvasilis et autres

es, us, gb, fi, ir (code pays fourni par la source)

An ancestry-enriched HNF4A variant and GP2 reveal distinct mechanisms of type 2 diabetes in exome-wide study of 13,674 cases and 41,024 controls

Sam Hodgson, Van-Minh Bui, Siqi Hu, Cyrielle Maroteau et autres

gb, us, fi, de, in (code pays fourni par la source)

Multi-Tissue Profiling Reveals tissue-specific protein regulation and relationships Between Protein Quantitative Trait Loci (pQTLs) and Cardiometabolic Disease

April Hartley, Katyayani Sukhavasi, Sile Hu, Matthew Traylor et autres

fi, ee, se, dk (code pays fourni par la source)

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

Hye In Kim, Christopher DeBoever, Klaudia Walter, Georgios Kalantzis et autres

us, gb, de, sg, es, fr, jp, pl, fi, au, ca, br (code pays fourni par la source)

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism

Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, R Maroofian et autres

Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders

Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian et autres

de, gb, us, ir, ca, Égypte, qa, in, tr, au, ee, il, fr, nl, ae, se, sa, pl (code pays fourni par la source)