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Search Results - La Serna‐Infantes, Jorge
Search Results - La Serna‐Infantes, Jorge
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A novel ASPH variant extends the phenotype of Shawaf‐Traboulsi syndrome
by
Abarca Barriga, Hugo H.
,
Caballero, Nathaly
,
Trubnykova, Milana
,
Castro‐Mujica, María del Carmen
,
La Serna‐Infantes, Jorge E.
,
Vásquez, Flor
,
Hennekam, Raoul C.
Published in
American journal of medical genetics. Part A
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MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
by
Guevara‐Fujita, María Luisa
,
Huaman‐Dianderas, Francia
,
Obispo, Daisy
,
Sánchez, Rodrigo
,
Barrenechea, Victor
,
Rojas‐Málaga, Diana
,
Estrada‐Cuzcano, Alejandro
,
Trubnykova, Milana
,
Cornejo‐Olivas, Mario
,
Marca, Victoria
,
Gallardo, Bertha
,
Dueñas‐Roque, Milagros
,
Protzel, Ana
,
Castañeda, Carlos
,
Abarca, Hugo
,
Celis, Luis
,
La Serna‐Infantes, Jorge
,
Fujita, Ricardo
Published in
Molecular genetics & genomic medicine
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Clinical genome sequencing in patients with suspected rare genetic disease in Peru
by
Bazalar-Montoya, Jeny
,
Cornejo-Olivas, Mario
,
Duenas-Roque, Milagros M.
,
Purizaca-Rosillo, Nelson
,
Rodriguez, Richard S.
,
Milla-Neyra, Karina
,
De La Torre-Hernandez, Carlos A.
,
Sarapura-Castro, Elison
,
Galarreta Aima, Carolina I.
,
Manassero-Morales, Gioconda
,
Chávez-Pasco, Giulliana
,
Celis-García, Luis
,
La Serna-Infantes, Jorge E.
,
Chekalin, Evgenii
,
Thorpe, Erin
,
Taft, Ryan J.
Published in
Npj genomic medicine
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Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3
by
La Serna-Infantes, Jorge
,
Pastor, Miguel Chávez
,
Trubnykova, Milana
,
Velásquez, Félix Chavesta
,
Sotomayor, Flor Vásquez
,
Barriga, Hugo Abarca
Published in
European journal of medical genetics
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GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature
by
Trubnykova, Milana
,
Bazalar Montoya, Jeny
,
La Serna-Infantes, Jorge
,
Vásquez Sotomayor, Flor
,
Castro Mujica, María del Carmen
,
Abarca Barriga, Hugo Hernán
Published in
Molecular syndromology
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American Journal Of Medical Genetics. Part A
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