Tipo Producción |
Título |
Primer autor |
Año de Producción |
DOI |
Revista |
Fuente |
Cuartil de ScimagoJR o JCR* |
JOURNAL_ARTICLE
|
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
|
|
2021
|
10.1002/mgg3.1759
|
|
Scopus - Elsevier a través de ORCID
|
|
Article
|
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
|
Guevara-Fujita, Maria Luisa
|
2021
|
10.1002/mgg3.1759
|
|
|
2021: No disponible**, 2020: Q3
|
JOURNAL_ARTICLE
|
Avances genómicos de la última década y su influencia en el enfoque diagnóstico de la discapacidad intelectual.
|
|
2021
|
10.20453/rnp.v84i1.3936
|
|
Crossref Metadata Search a través de ORCID
|
|
JOURNAL_ARTICLE
|
Management of genetic diseases: Present and future
|
|
2021
|
10.25176/RFMH.v21i2.3626
|
|
Crossref a través de ORCID
|
|
Article
|
Importance of establish of the copy number variations in newborn with autosomal aneuploidies
|
Abarca, Hugo
|
2021
|
10.7705/biomedica.5354
|
|
|
2021: No disponible**, 2020: Q4
|
JOURNAL_ARTICLE
|
Importancia de la determinación de variantes en el número de copias en neonatos con aneuploidías autosómicas
|
|
2021
|
10.7705/biomedica.5354
|
|
Crossref a través de ORCID
|
|
JOURNAL_ARTICLE
|
Variantes en el número de copias en neonatos aneuploides
|
|
2021
|
10.7705/biomedica.5354
|
|
Scopus - Elsevier a través de ORCID
|
|
Artículo en revista científica
|
Variantes en el número de copias en neonatos aneuploides
|
Abarca H.
|
2021
|
10.7705/biomedica.5354
|
|
|
2021: No disponible**, 2020: Q3
|
BOOK
|
LIBRO DEL BICENTENARIO DE LA INDEPENDENCIA NACIONAL 1 8 2 1 – 2 0 2 1
|
|
2021
|
|
|
Hugo Abarca Barriga a través de ORCID
|
|
JOURNAL_ARTICLE
|
Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases
|
|
2020
|
10.1002/humu.24118
|
|
Crossref Metadata Search a través de ORCID
|
|
Artículo en revista científica
|
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases
|
Montenegro-Garreaud X.
|
2020
|
10.1002/humu.24118
|
Human Mutation
|
|
Q1
|
JOURNAL_ARTICLE
|
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases
|
|
2020
|
10.1002/humu.24118
|
|
Scopus - Elsevier a través de ORCID
|
|
Article
|
Phenotypic expansion inKIF1A-related dominant disorders: A description of novel variants and review of published cases
|
Montenegro-Garreaud, Ximena
|
2020
|
10.1002/humu.24118
|
HUMAN MUTATION
|
|
Q1
|
Review
|
Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature
|
Abarca-Barriga, Hugo H.
|
2020
|
10.1055/s-0039-3402048
|
Journal of Pediatric Genetics
|
|
S/C***
|
JOURNAL_ARTICLE
|
Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature
|
|
2020
|
10.1055/s-0039-3402048
|
|
Crossref a través de ORCID
|
|
JOURNAL_ARTICLE
|
Genetic basis of pulmonary arterial hypertension
|
|
2020
|
10.25176/RFMH.v20i4.2946
|
|
Crossref a través de ORCID
|
|
JOURNAL_ARTICLE
|
Ampliación del tamizaje de errores innatos del metabolismo en Perú: reporte de caso con trastorno del metabolismo de cobalamina
|
|
2020
|
10.35663/amp.2020.371.880
|
|
Hugo Abarca Barriga a través de ORCID
|
|
JOURNAL_ARTICLE
|
Variantes en el número de copias en trastornos del neurodesarrollo, síndrome malformativo y talla baja en Perú
|
|
2020
|
10.35663/amp.2020.372.915
|
|
Crossref a través de ORCID
|
|
Article
|
High prevalence of congenital generalized lipodystrophy in Piura, Peru
|
David Purizaca-Rosillo, Nelson
|
2020
|
10.5582/irdr.2020.01004
|
Intractable & Rare Diseases Research
|
|
S/C***
|
JOURNAL_ARTICLE
|
High prevalence of congenital generalized lipodystrophy in Piura, Peru.
|
|
2020
|
10.5582/irdr.2020.01004
|
|
Hugo Abarca Barriga a través de ORCID
|
|
JOURNAL_ARTICLE
|
Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis
|
|
2019
|
10.1055/s-0039-1678682
|
|
Hugo Abarca Barriga a través de ORCID
|
|
Article
|
Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis
|
Vasquez Sotomayor, Flor
|
2019
|
10.1055/s-0039-1678682
|
|
|
S/C***
|
Review
|
<bold>GATAD2B</bold> Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature
|
Trubnykova, Milana
|
2019
|
10.1159/000499209
|
Molecular Syndromology
|
|
Q4
|
JOURNAL_ARTICLE
|
GATAD2B Gene microdeletion causing intellectual disability autosomal dominant type 18: Case report and review of the literature
|
|
2019
|
10.1159/000499209
|
|
Scopus - Elsevier a través de ORCID
|
|
Review
|
GATAD2B Gene microdeletion causing intellectual disability autosomal dominant type 18: Case report and review of the literature
|
Trubnykova M.
|
2019
|
10.1159/000499209
|
Molecular Syndromology
|
|
Q2
|
JOURNAL_ARTICLE
|
GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature
|
|
2019
|
|
|
Hugo Abarca Barriga a través de ORCID
|
|
Article
|
Williams-Beuren syndrome in diverse populations
|
Kruszka, Paul
|
2018
|
10.1002/ajmg.a.38672
|
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
|
|
Q3
|
Journal-article
|
Williams–Beuren syndrome in diverse populations
|
|
2018
|
10.1002/ajmg.a.38672
|
|
Scopus - Elsevier a través de ORCID
|
|
Artículo en revista científica
|
Williams–Beuren syndrome in diverse populations
|
Kruszka P.
|
2018
|
10.1002/ajmg.a.38672
|
American Journal of Medical Genetics, Part A
|
|
Q2
|
Article
|
A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome
|
Abarca Barriga, Hugo H.
|
2018
|
10.1002/ajmg.a.40508
|
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
|
|
Q3
|
Artículo en revista científica
|
A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome
|
Abarca Barriga H.H.
|
2018
|
10.1002/ajmg.a.40508
|
American Journal of Medical Genetics, Part A
|
|
Q2
|
JOURNAL_ARTICLE
|
A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome
|
|
2018
|
10.1002/ajmg.a.40508
|
|
Crossref a través de ORCID
|
|
JOURNAL_ARTICLE
|
Genetics and genomics in Peru: Clinical and research perspective
|
|
2018
|
10.1002/mgg3.533
|
|
Scopus - Elsevier a través de ORCID
|
|
Artículo en revista científica
|
Genetics and genomics in Peru: Clinical and research perspective
|
Guio H.
|
2018
|
10.1002/mgg3.533
|
Molecular genetics & genomic medicine
|
|
Q3
|
Article
|
Genetics and genomics in Peru: Clinical and research perspective
|
Guio, Heinner
|
2018
|
10.1002/mgg3.533
|
Molecular Genetics & Genomic Medicine
|
|
Q3
|
JOURNAL_ARTICLE
|
Genetics and genomics in Peru: Clinical and research perspective
|
|
2018
|
10.1002/mgg3.533
|
|
Hugo Abarca Barriga a través de ORCID
|
|
Journal-article
|
Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3
|
|
2018
|
10.1016/j.ejmg.2018.02.004
|
|
Scopus - Elsevier a través de ORCID
|
|
Artículo en revista científica
|
Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3
|
La Serna-Infantes J.
|
2018
|
10.1016/j.ejmg.2018.02.004
|
European Journal of Medical Genetics
|
|
Q1
|
Article
|
Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3
|
La Serna-Infantes, Jorge
|
2018
|
10.1016/j.ejmg.2018.02.004
|
European Journal of Medical Genetics
|
|
Q3
|
Article
|
Megalencephalic leukoencephalopathy with subcortical cysts Characterization of disease variants
|
Hamilton, Eline M. C.
|
2018
|
10.1212/WNL.0000000000005334
|
NEUROLOGY
|
|
Q1
|
JOURNAL_ARTICLE
|
Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3
|
|
2018
|
https://doi.org/10.1016/j.ejmg.2018.02.004
|
|
Hugo Abarca Barriga a través de ORCID
|
|
JOURNAL_ARTICLE
|
Megalencephalic leukoencephalopathy with subcortical cysts
|
|
2018
|
https://doi.org/10.1212/WNL.0000000000005334
|
|
Hugo Abarca Barriga a través de ORCID
|
|
JOURNAL_ARTICLE
|
Factores de riesgo en las enfermedades genéticas
|
|
2018
|
|
|
Hugo Abarca Barriga a través de ORCID
|
|
Journal-article
|
Noonan syndrome in diverse populations
|
|
2017
|
10.1002/ajmg.a.38362
|
|
Scopus - Elsevier a través de ORCID
|
|
Artículo en revista científica
|
Noonan syndrome in diverse populations
|
Kruszka P.
|
2017
|
10.1002/ajmg.a.38362
|
American Journal of Medical Genetics, Part A
|
|
Q2
|
Article
|
Noonan syndrome in diverse populations
|
Kruszka, Paul
|
2017
|
10.1002/ajmg.a.38362
|
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
|
|
Q3
|
Article
|
A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria
|
Poterico, Julio A.
|
2017
|
10.1055/s-0037-1604099
|
|
|
S/C***
|
Artículo en revista científica
|
Frequency of the most common mutations of the CFTR gene in Peruvian patients with cystic fibrosis using the ARMS-PCR technique
|
Aquino R.
|
2017
|
10.17843/rpmesp.2017.341.2767
|
Revista Peruana de Medicina de Experimental y Salud Publica
|
|
Q3
|
Journal-article
|
Frequency of the most common mutations of the CFTR gene in Peruvian patients with cystic fibrosis using the ARMS-PCR technique | Frecuencia de las mutaciones más comunes del gen CFTR en pacientes peruanos con fibrosis quística mediante la técnica ARMS-PCR
|
|
2017
|
10.17843/rpmesp.2017.341.2767
|
|
Scopus - Elsevier a través de ORCID
|
|
JOURNAL_ARTICLE
|
Frequency of the most common mutations of the CFTR gene in Peruvian patients with cystic fibrosis using the ARMS-PCR technique,Frecuencia de las mutaciones más comunes del gen CFTR en pacientes peruanos con fibrosis quística mediante la técnica ARMS-PCR
|
|
2017
|
10.17843/rpmesp.2017.341.2767
|
|
Scopus - Elsevier a través de ORCID
|
|
Letter
|
Chromosomal microarray analysis in Peruvian children with delayed psychomotor development or intellectual disability
|
Abarca-Barriga H.H.
|
2017
|
10.17843/rpmesp.2017.343.2741
|
Revista Peruana de Medicina de Experimental y Salud Publica
|
|
No Aplica
|
Journal-article
|
Chromosomal microarray analysis in Peruvian children with delayed psychomotor development or intellectual disability | Análisis de micromatrices cromosómicas en niños peruanos con retraso del desarrollo psicomotor o discapacidad intelectual
|
|
2017
|
10.17843/rpmesp.2017.343.2741
|
|
Scopus - Elsevier a través de ORCID
|
|
JOURNAL_ARTICLE
|
Chromosomal microarray analysis in Peruvian children with delayed psychomotor development or intellectual disability,Análisis de micromatrices cromosómicas en niños peruanos con retraso del desarrollo psicomotor o discapacidad intelectual
|
|
2017
|
10.17843/rpmesp.2017.343.2741
|
|
Scopus - Elsevier a través de ORCID
|
|
JOURNAL_ARTICLE
|
Noonan syndrome in diverse populations.
|
|
2017
|
https://doi.org/10.1002/ajmg.a.38362
|
|
Hugo Abarca Barriga a través de ORCID
|
|
Journal-article
|
A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria
|
|
2017
|
https://doi.org/10.1055/s-0037-1604099
|
|
Hugo Abarca Barriga a través de ORCID
|
|
JOURNAL_ARTICLE
|
Frequency of the most common mutations of the CFTR gene in Peruvian patients with cystic fibrosis using the ARMS-PCR technique | Frecuencia de las mutaciones más comunes del gen CFTR en pacientes peruanos con fibrosis quística mediante la técnica ARMS-PCR
|
|
2017
|
https://doi.org/10.17843/rpmesp.2017.341.2767
|
|
Hugo Abarca Barriga a través de ORCID
|
|
JOURNAL_ARTICLE
|
Chromosomal microarray analysis in peruvian children with delayed psychomotor development or intellectual disability
|
|
2017
|
https://doi.org/10.17843/rpmesp.2017.343.2741
|
|
Hugo Abarca Barriga a través de ORCID
|
|
Artículo en revista científica
|
H syndrome: First reported paediatric case in Latin America
|
Abarca Barriga H.
|
2016
|
10.1016/j.rchipe.2016.03.006
|
Revista Chilena de Pediatria
|
|
Q3
|
Article
|
H syndrome: First reported paediatric case in Latin America
|
Abarca Barriga, Hugo Hernan
|
2016
|
10.1016/j.rchipe.2016.03.006
|
|
|
S/C***
|
Journal-article
|
H syndrome: First reported paediatric case in Latin America | Síndrome H: primer caso pediátrico reportado en América Latina
|
|
2016
|
10.1016/j.rchipe.2016.03.006
|
|
Scopus - Elsevier a través de ORCID
|
|
JOURNAL_ARTICLE
|
H syndrome: First reported paediatric case in Latin America,Síndrome H: primer caso pediátrico reportado en América Latina
|
|
2016
|
10.1016/j.rchipe.2016.03.006
|
|
Scopus - Elsevier a través de ORCID
|
|
Artículo en revista científica
|
Ocular pterygium-Digital keloid dysplasia
|
Abarca H.
|
2014
|
10.1002/ajmg.a.36713
|
American Journal of Medical Genetics, Part A
|
|
Q2
|
Journal-article
|
Ocular pterygium-Digital keloid dysplasia
|
|
2014
|
10.1002/ajmg.a.36713
|
|
Scopus - Elsevier a través de ORCID
|
|
Article
|
Ocular Pterygium-Digital Keloid Dysplasia
|
Abarca, Hugo
|
2014
|
10.1002/ajmg.a.36713
|
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
|
|
Q3
|
Artículo en revista científica
|
Microduplications encompassing the sonic hedgehog limb enhancer ZRS are associated with haas-type polysyndactyly and Laurin-Sandrow syndrome
|
Lohan S.
|
2014
|
10.1111/cge.12352
|
Clinical Genetics
|
|
Q1
|
Journal-article
|
Microduplications encompassing the sonic hedgehog limb enhancer ZRS are associated with haas-type polysyndactyly and Laurin-Sandrow syndrome
|
|
2014
|
10.1111/cge.12352
|
|
Scopus - Elsevier a través de ORCID
|
|
Article
|
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome
|
Lohan, S.
|
2014
|
10.1111/cge.12352
|
CLINICAL GENETICS
|
|
Q2
|
Journal-article
|
Megalencephalic leukoencephalopathy with subcortical cysts (Van der knapp disease) | Leucoencefalopatía megalencefálica con quistes subcorticales (enfermedad de Van der knaap)
|
|
2013
|
|
|
Scopus - Elsevier a través de ORCID
|
|
JOURNAL_ARTICLE
|
Megalencephalic leukoencephalopathy with subcortical cysts (Van der knapp disease),Leucoencefalopatía megalencefálica con quistes subcorticales (enfermedad de Van der knaap)
|
|
2013
|
|
|
Scopus - Elsevier a través de ORCID
|
|
Artículo en revista científica
|
Megalencephalic leukoencephalopathy with subcortical cysts (Van der knapp disease)
|
Abarca Barriga H.
|
2013
|
|
Revista Cubana de Pediatria
|
|
Q3
|
BOOK
|
Atlas de Dismorfología Pediátrica
|
|
2012
|
|
|
Hugo Abarca Barriga a través de ORCID
|
|