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Borjas‐Mendoza, Paulo
7  results:
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1

Two novel heterozygous exonic deletions lead to Chanarin–Do..:

Zoullas, Sofia ; Morel, Dayna ; Zafeer, Faraz...
American Journal of Medical Genetics Part A.  194 (2023)  4 - p. , 2023
Link: https://doi.org/10.1002/..
 
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2

H4C5 missense variant leads to a neurodevelopmental phenoty..:

Borja, Nicholas ; Borjas‐Mendoza, Paulo ; Bivona, Stephanie...
American Journal of Medical Genetics Part A.  191 (2023)  7 - p. 1911-1916 , 2023
Link: https://doi.org/10.1002/..
 
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3

P861: Newborn screening for Pompe disease in South Florida:..:

McGonigle, William ; Borjas-Mendoza, Paulo ; Zoullas, Sofia..
Genetics in Medicine Open.  2 (2024)  - p. 101775 , 2024
Link: https://doi.org/10.1016/..
 
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4

Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likel..:

Lang, Steven H. ; Camponeschi, Francesca ; de Joya, Evan...
Genes.  13 (2022)  11 - p. 2044 , 2022
Link: https://doi.org/10.3390/..
 
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5

Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likel..:

Lang, Steven H ; Camponeschi, Francesca ; de Joya, Evan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690653/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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6

Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likel..:

Steven H. Lang ; Francesca Camponeschi ; Evan de Joya...
https://www.mdpi.com/2073-4425/13/11/2044.  , 2022
Link: https://doi.org/10.3390/..
 
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7

Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likel..:

Steven H. Lang ; Francesca Camponeschi ; Evan de Joya...
Human Genomics and Genetic Diseases.  , 2022
Link: https://doi.org/10.3390/..
 
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