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Yadira Valles-Ayoub
Yadira Valles-Ayoub
Genetics
Biology
Missense mutation
Hereditary inclusion body myopathy
Coding region
5
Papers
37
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New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease).
2015
Journal of Pediatric Gastroenterology and Nutrition
Mariana Gómez-Nájera
Hilario Barajas-Medina
Mayra Celina Gallegos Rivas
Pedro Gonzalo Méndez-Sashida
Kendrick A. Goss
Katherine B. Sims
Radhika Tripuraneni
Yadira Valles-Ayoub
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Citations (9)
Novel mutations seen in rapid, fatal case of early onset LAL deficiency (Wolman disease)
2013
Molecular Genetics and Metabolism
Mariana Gómez-Nájera
Hilario Barajas-Medina
Mayra Celina Gallegos Rivas
Pedro Gonzalo Méndez-Sashida
Amy Simonds
Radhika Tripuraneni
Yadira Valles-Ayoub
Yasemen Eroglu
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Novel GNE Mutations in Autosomal Recessive Hereditary Inclusion Body Myopathy Patients
2013
Genetic Testing and Molecular Biomarkers
Daniel No
Yadira Valles-Ayoub
Rosangela Carbajo
Zeshan Khokher
Lucia Sandoval
Beth Stein
Mark A. Tarnopolsky
Tahseen Mozaffar
Babak Darvish
Marvin Pietruszka
Daniel Darvish
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Citations (8)
Novel GNE Mutations in Hereditary Inclusion Body Myopathy Patients of Non-Middle Eastern Descent
2010
Genetic Testing and Molecular Biomarkers
Chai Saechao
Yadira Valles-Ayoub
Saghi Esfandiarifard
Arman Haghighatgoo
Daniel No
Steven J. Shook
Jerry R. Mendell
Xiomara Rosales-Quintero
Kevin J. Felice
Chantal F. Morel
Marvin Pietruska
Daniel Darvish
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Citations (20)
Fine-mapping ofDNAdamageandrepair inspecific genomic segments
1990
Nucleic Acids Research
Yadira Valles-Ayoub
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