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1. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

2. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

3. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

4. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

5. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

6. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2variants in 15 novel individuals

7. Biallelic PRMT7pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

9. Biallelic variation in the choline and ethanolamine transporter FLVCR1underlies a severe developmental disorder spectrum

10. Autosomal recessive VWA1 -related disorder: comprehensive analysis of phenotypic variability and genetic mutations.

11. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.

12. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.

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