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Sofia Saenz Ayala

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Pediatric Clinics of North America|September 13, 2023
Genetics 101: When to ReferAlyce Belonis, Sofia Saenz Ayala
American Journal of Medical Genetics. Part A|March 24, 2021
A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature reviewXiaolin Hu, Sofia Saenz Ayala, Lisa Dyer, et al.
Clinical Case Reports|February 14, 2022
Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: A case reportSubba Rao Indugula, Sofia Saenz Ayala, Francesco Vetrini, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|March 26, 2021
Novel splicing (c.6529-1G>T) and missense (c.1667G>A) mutations causing factor V deficiencySatish Maharaj, Sofia Saenz Ayala, Xiaolin Hu, et al.
Molecular Genetics and Metabolism|December 21, 2024
Clinical and biochemical footprints of inherited metabolic diseases: XVII. DysmorphismsCarol L Greene, Sofia Saenz-Ayala, Erin T Strovel, et al.
Pageof 1

Showing results (1-10 of 5) with videos related to

Sort By:
Pageof 1
Pediatric Clinics of North America|September 13, 2023
Genetics 101: When to ReferAlyce Belonis, Sofia Saenz Ayala
American Journal of Medical Genetics. Part A|March 24, 2021
A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature reviewXiaolin Hu, Sofia Saenz Ayala, Lisa Dyer, et al.
Clinical Case Reports|February 14, 2022
Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: A case reportSubba Rao Indugula, Sofia Saenz Ayala, Francesco Vetrini, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|March 26, 2021
Novel splicing (c.6529-1G>T) and missense (c.1667G>A) mutations causing factor V deficiencySatish Maharaj, Sofia Saenz Ayala, Xiaolin Hu, et al.
Molecular Genetics and Metabolism|December 21, 2024
Clinical and biochemical footprints of inherited metabolic diseases: XVII. DysmorphismsCarol L Greene, Sofia Saenz-Ayala, Erin T Strovel, et al.
Pageof 1